GGRNA Home | Help | Advanced search

2024-03-29 16:26:27, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_014382               4964 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1),
            transcript variant 1, mRNA.
ACCESSION   NM_014382
VERSION     NM_014382.3  GI:312836761
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4964)
  AUTHORS   Li,X., Zhang,D., Xiao,S. and Peng,Z.
  TITLE     Four novel mutations of the ATP2C1 gene in Chinese patients are
            associated with familial benign chronic pemphigus
  JOURNAL   Clin. Exp. Dermatol. 37 (7), 797-799 (2012)
   PUBMED   22607350
  REMARK    GeneRIF: we report four novel mutations of the ATP2C1 gene involved
            in HHD, expanding the repertoire of ATP2C1 mutations underlying
            HHD.
REFERENCE   2  (bases 1 to 4964)
  AUTHORS   Raiko,L., Siljamaki,E., Mahoney,M.G., Putaala,H., Suominen,E.,
            Peltonen,J. and Peltonen,S.
  TITLE     Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are
            regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in
            cultured keratinocytes
  JOURNAL   Exp. Dermatol. 21 (8), 586-591 (2012)
   PUBMED   22639968
  REMARK    GeneRIF: SPCA1 regulates the levels of claudins 1 and 4, but does
            not affect desmosomal protein levels in keratinocytes.
REFERENCE   3  (bases 1 to 4964)
  AUTHORS   Gu,S.Q., Bakthavachalu,B., Han,J., Patil,D.P., Otsuka,Y., Guda,C.
            and Schoenberg,D.R.
  TITLE     Identification of the human PMR1 mRNA endonuclease as an
            alternatively processed product of the gene for peroxidasin-like
            protein
  JOURNAL   RNA 18 (6), 1186-1196 (2012)
   PUBMED   22543864
  REMARK    GeneRIF: Human PMR1 bound to c-Src, was tyrosine phosphorylated,
            sedimented on polysomes, and catalyzed the selective decay of a
            PMR1 substrate mRNA. Human PMR1 expression stimulated cell
            motility.
REFERENCE   4  (bases 1 to 4964)
  AUTHORS   Zhang,D., Li,X., Xiao,S., Huo,J., Wang,S. and Zhou,P.
  TITLE     Detection and comparison of two types of ATP2C1 gene mutations in
            Chinese patients with Hailey-Hailey disease
  JOURNAL   Arch. Dermatol. Res. 304 (2), 163-170 (2012)
   PUBMED   22124882
  REMARK    GeneRIF: genetic polymorphism is associated with Hailey-Hailey
            disease in Chinese patients
REFERENCE   5  (bases 1 to 4964)
  AUTHORS   Zhang,H.Z., Tian,H.Q., Du,D.H., Wang,G.J., Yan,X.X., Liu,H.,
            Zhou,G.Z., Fu,X.A., Yu,Y.X., Yu,G.Q., Liu,H.X. and Zhang,F.R.
  TITLE     Analysis of ATP2C1 gene mutations in Chinese patients with
            Hailey-Hailey disease
  JOURNAL   Clin. Exp. Dermatol. 37 (2), 190-193 (2012)
   PUBMED   21883398
  REMARK    GeneRIF: we report five novel mutations and four recurrent
            mutations of the ATP2C1 gene in Chinese patients. This further
            expands the mutation spectrum in Hailey-Hailey Disease.
REFERENCE   6  (bases 1 to 4964)
  AUTHORS   Ton,V.K., Mandal,D., Vahadji,C. and Rao,R.
  TITLE     Functional expression in yeast of the human secretory pathway
            Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease
  JOURNAL   J. Biol. Chem. 277 (8), 6422-6427 (2002)
   PUBMED   11741891
REFERENCE   7  (bases 1 to 4964)
  AUTHORS   Dobson-Stone,C., Fairclough,R., Dunne,E., Brown,J., Dissanayake,M.,
            Munro,C.S., Strachan,T., Burge,S., Sudbrak,R., Monaco,A.P. and
            Hovnanian,A.
  TITLE     Hailey-Hailey disease: molecular and clinical characterization of
            novel mutations in the ATP2C1 gene
  JOURNAL   J. Invest. Dermatol. 118 (2), 338-343 (2002)
   PUBMED   11841554
  REMARK    GeneRIF: failed to yield any clear correlation between the nature
            of the mutation and clinical features of Hailey-Hailey disease.
REFERENCE   8  (bases 1 to 4964)
  AUTHORS   Sudbrak,R., Brown,J., Dobson-Stone,C., Carter,S., Ramser,J.,
            White,J., Healy,E., Dissanayake,M., Larregue,M., Perrussel,M.,
            Lehrach,H., Munro,C.S., Strachan,T., Burge,S., Hovnanian,A. and
            Monaco,A.P.
  TITLE     Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a
            novel Ca(2+) pump
  JOURNAL   Hum. Mol. Genet. 9 (7), 1131-1140 (2000)
   PUBMED   10767338
REFERENCE   9  (bases 1 to 4964)
  AUTHORS   Hu,Z., Bonifas,J.M., Beech,J., Bench,G., Shigihara,T., Ogawa,H.,
            Ikeda,S., Mauro,T. and Epstein,E.H. Jr.
  TITLE     Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey
            disease
  JOURNAL   Nat. Genet. 24 (1), 61-65 (2000)
   PUBMED   10615129
REFERENCE   10 (bases 1 to 4964)
  AUTHORS   Ikeda,S., Welsh,E.A., Peluso,A.M., Leyden,W., Duvic,M.,
            Woodley,D.T. and Epstein,E.H. Jr.
  TITLE     Localization of the gene whose mutations underlie Hailey-Hailey
            disease to chromosome 3q
  JOURNAL   Hum. Mol. Genet. 3 (7), 1147-1150 (1994)
   PUBMED   7981684
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC343471.1, AF181120.1,
            AK314342.1, AC055733.16 and BQ220831.1.
            On Nov 25, 2010 this sequence version replaced gi:48762684.
            
            Summary: The protein encoded by this gene belongs to the family of
            P-type cation transport ATPases. This magnesium-dependent enzyme
            catalyzes the hydrolysis of ATP coupled with the transport of
            calcium ions. Defects in this gene cause Hailey-Hailey disease, an
            autosomal dominant disorder. Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) has an alternate 5' exon,
            lacks the 3' exon and contains an alternate 3' segment, as compared
            to variant 6. The resulting isoform (1a) has shorter and distinct
            N- and C-termini, as compared to isoform 2a. Variants 1 and 5
            encode the same isoform 1a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF181120.1, AK314342.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-544               DC343471.1         1-544
            545-1438            AF181120.1         458-1351
            1439-2070           AK314342.1         1301-1932
            2071-3724           AF181120.1         1984-3637
            3725-4840           AC055733.16        40890-42005         c
            4841-4964           BQ220831.1         333-456
FEATURES             Location/Qualifiers
     source          1..4964
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..4964
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /note="ATPase, Ca++ transporting, type 2C, member 1"
                     /db_xref="GeneID:27032"
                     /db_xref="HGNC:13211"
                     /db_xref="MIM:604384"
     exon            1..328
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       29
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:376276217"
     variation       86
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:115940289"
     variation       110
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:181664730"
     variation       126
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150899983"
     misc_feature    290..292
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /note="upstream in-frame stop codon"
     variation       290
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201306089"
     variation       307
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375566516"
     CDS             323..3082
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /EC_number="3.6.3.8"
                     /note="isoform 1a is encoded by transcript variant 1;
                     secretory pathway Ca2+/Mn2+ ATPase 1; ATPase,
                     Ca(2+)-sequestering; ATPase 2C1; HUSSY-28;
                     calcium-transporting ATPase type 2C member 1;
                     ATP-dependent Ca(2+) pump PMR1"
                     /codon_start=1
                     /product="calcium-transporting ATPase type 2C member 1
                     isoform 1a"
                     /protein_id="NP_055197.2"
                     /db_xref="GI:48762685"
                     /db_xref="CCDS:CCDS46914.1"
                     /db_xref="GeneID:27032"
                     /db_xref="HGNC:13211"
                     /db_xref="MIM:604384"
                     /translation="
MKVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGWNEFDISEDEPLWKKYISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQEYRSEKSLEELSKLVPPECHCVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRLFEAVDLSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAFMGTLVRCGKAKGVVIGTGENSEFGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGIIMLVGWLLGKDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSDKTGTLTKNEMTVTHIFTSDGLHAEVTGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNTLMGKPTEGALIALAMKMGLDGLQQDYIRKAEYPFSSEQKWMAVKCVHRTQQDRPEICFMKGAYEQVIKYCTTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVLALASGPELGQLTFLGLVGIIDPPRTGVKEAVTTLIASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEIDAMDVQQLSQIVPKVAVFYRASPRHKMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVAMGQTGTDVCKEAADMILVDDDFQTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGVEPVDKDVIRKPPRNWKDSILTKNLILKILVSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCSNRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVERSREKIQKHVSSTSSSFLEV
"
     misc_feature    389..3031
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /note="golgi membrane calcium-translocating P-type ATPase;
                     Region: ATPase-IIA2_Ca; TIGR01522"
                     /db_xref="CDD:130585"
     misc_feature    398..604
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /note="Cation transporter/ATPase, N-terminus; Region:
                     Cation_ATPase_N; pfam00690"
                     /db_xref="CDD:201397"
     misc_feature    533..595
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     misc_feature    635..691
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     misc_feature    680..1342
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /note="E1-E2 ATPase; Region: E1-E2_ATPase; pfam00122"
                     /db_xref="CDD:201018"
     misc_feature    1109..1168
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     misc_feature    1205..1258
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     misc_feature    1547..1801
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /note="Putative hydrolase of sodium-potassium ATPase alpha
                     subunit; Region: Hydrolase_like2; pfam13246"
                     /db_xref="CDD:205426"
     misc_feature    1973..2305
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /note="Haloacid dehalogenase-like hydrolases. The haloacid
                     dehalogenase-like (HAD) superfamily includes L-2-haloacid
                     dehalogenase, epoxide hydrolase, phosphoserine
                     phosphatase, phosphomannomutase, phosphoglycolate
                     phosphatase, P-type ATPase, and many others; Region:
                     HAD_like; cd01427"
                     /db_xref="CDD:119389"
     misc_feature    2030..2032
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /note="motif II; other site"
                     /db_xref="CDD:119389"
     misc_feature    2420..2479
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     misc_feature    2498..3016
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /note="Cation transporting ATPase, C-terminus; Region:
                     Cation_ATPase_C; pfam00689"
                     /db_xref="CDD:201396"
     misc_feature    2510..2572
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     misc_feature    2633..2701
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     misc_feature    2747..2806
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     misc_feature    2846..2902
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     misc_feature    2948..3010
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P98194.3);
                     transmembrane region"
     exon            329..439
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       329
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:148243014"
     variation       336
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141384562"
     variation       421
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369329097"
     exon            440..556
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       468
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146272850"
     variation       502
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:138085702"
     variation       503
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:76522938"
     exon            557..646
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     exon            647..682
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       659
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142366167"
     exon            683..744
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       702
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:370168782"
     variation       735
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:145930763"
     exon            745..853
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       746
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139529865"
     variation       749
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182847851"
     variation       808
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368726188"
     variation       822
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372317337"
     exon            854..1009
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       869
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200602419"
     variation       907
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2760272"
     variation       957
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200427297"
     variation       958
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:6810181"
     exon            1010..1078
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1013
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143199078"
     variation       1069
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370992502"
     variation       1076
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4289320"
     exon            1079..1154
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1104
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200665127"
     variation       1132
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377696166"
     exon            1155..1221
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1156
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116485868"
     variation       1169
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369944125"
     variation       1198
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374036911"
     variation       1216
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:61731514"
     exon            1222..1346
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1232
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:137853012"
     variation       1266
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201027935"
     variation       1273
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147959633"
     variation       1290
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369940049"
     exon            1347..1444
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1394
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201217185"
     variation       1426
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:116460767"
     variation       1433
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368337412"
     variation       1434
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:372425288"
     variation       1440
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200105766"
     exon            1445..1540
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1468
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141822193"
     variation       1470
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137896406"
     variation       1512
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369250519"
     exon            1541..1630
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1542
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201854784"
     variation       1562
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376162348"
     variation       1578
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370539073"
     variation       1586
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:145370264"
     variation       1588
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115441492"
     exon            1631..1735
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1670
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:41434650"
     variation       1676
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114743659"
     variation       1724
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137853013"
     exon            1736..1892
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1762
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11542182"
     variation       1764
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141010361"
     variation       1791
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:137853014"
     variation       1825
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150217507"
     exon            1893..2063
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       1932
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:113724048"
     variation       1937
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:138617225"
     variation       1945
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:61731516"
     variation       1982
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201861630"
     variation       1996
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145413274"
     variation       2005
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114319700"
     variation       2008
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115516433"
     variation       2012
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142641883"
     exon            2064..2161
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       2070
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200576649"
     variation       2073
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137853015"
     variation       2074
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368679995"
     variation       2105
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:116094927"
     variation       2107
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200047787"
     variation       2124
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:375115576"
     exon            2162..2212
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     exon            2213..2379
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       2214
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145949576"
     variation       2251
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113436071"
     variation       2370
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199765678"
     exon            2380..2448
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       2389
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148190902"
     exon            2449..2565
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       2507
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371236506"
     exon            2566..2713
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       2600
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150745965"
     variation       2635
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369430850"
     exon            2714..2809
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       2765
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1053084"
     exon            2810..2951
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       2823
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375112180"
     variation       2878
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:193111792"
     variation       2920
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:16835513"
     variation       2935
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144839903"
     exon            2952..4934
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /inference="alignment:Splign:1.39.8"
     variation       2986
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114499538"
     STS             3004..3838
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /standard_name="ATP2C1_3811"
                     /db_xref="UniSTS:463236"
     variation       3055
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372102536"
     variation       3179
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:34966299"
     variation       3257..3258
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:11434122"
     variation       3310
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:78540252"
     variation       3328
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188602556"
     variation       3424
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:200037424"
     variation       3433
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:11542183"
     variation       3490
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373315400"
     variation       3575..3579
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace=""
                     /replace="tgtaa"
                     /db_xref="dbSNP:141448272"
     variation       3701
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372638968"
     variation       3759
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:76326281"
     variation       3768
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150024961"
     variation       3806
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145351517"
     variation       3837
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149202818"
     variation       3907
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374738042"
     variation       3963
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:181188000"
     variation       4013
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:186817851"
     variation       4080
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:116671177"
     variation       4313
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:190081792"
     variation       4508
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142449501"
     variation       4552
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147964547"
     variation       4615
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:182142799"
     variation       4627
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372789446"
     variation       4634
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:186240603"
     STS             4651..4792
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /standard_name="SHGC-77341"
                     /db_xref="UniSTS:6081"
     variation       4902
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:72628536"
     polyA_signal    4908..4913
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
     variation       4921
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141516276"
     variation       4930
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12330546"
     polyA_site      4934
                     /gene="ATP2C1"
                     /gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
ORIGIN      
gctggcgtgagctggggacgttgcgggcacacgacggggcgggtgcgggatcttggggaggggggctcccgagatagtggctgggcggggaactccttcctcagcctctcgtcagcgccgcttctcctggtttctcttgcagatgctgctgctaggggtggtgggagcagccgtgggacgcgtggccgggagcgggggtgacagcctgggattccgggggcttctcttccttgtcctcctcctctcctctctattcccagtgtggccgtggctgacactaaagactttgtagccatcaacccgagtgcagtttcgatggaaaatgaaggttgcacgttttcaaaaaatacctaatggtgaaaatgagacaatgattcctgtattgacatcaaaaaaagcaagtgaattaccagtcagtgaagttgcaagcattctccaagctgatcttcagaatggtctaaacaaatgtgaagttagtcataggcgagcctttcatggctggaatgagtttgatattagtgaagatgagccactgtggaagaagtatatttctcagtttaaaaatccccttattatgctgcttctggcttctgcagtcatcagtgttttaatgcatcagtttgatgatgccgtcagtatcactgtggcaatacttatcgttgttacagttgcctttgttcaggaatatcgttcagaaaaatctcttgaagaattgagtaaacttgtgccaccagaatgccattgtgtgcgtgaaggaaaattggagcatacacttgcccgagacttggttccaggtgatacagtttgcctttctgttggggatagagttcctgctgacttacgcttgtttgaggctgtggatctttccattgatgagtccagcttgacaggtgagacaacgccttgttctaaggtgacagctcctcagccagctgcaactaatggagatcttgcatcgagaagtaacattgcctttatgggaacactggtcagatgtggcaaagcaaagggtgttgtcattggaacaggagaaaattctgaatttggggaggtttttaaaatgatgcaagcagaagaggcaccaaaaacccctctgcagaagagcatggacctcttaggaaaacaactttccttttactcctttggtataataggaatcatcatgttggttggctggttactgggaaaagatatcctggaaatgtttactattagtgtaagtttggctgtagcagcaattcctgaaggtctccccattgtggtcacagtgacgctagctcttggtgttatgagaatggtgaagaaaagggccattgtgaaaaagctgcctattgttgaaactctgggctgctgtaatgtgatttgttcagataaaactggaacactgacgaagaatgaaatgactgttactcacatatttacttcagatggtctgcatgctgaggttactggagttggctataatcaatttggggaagtgattgttgatggtgatgttgttcatggattctataacccagctgttagcagaattgttgaggcgggctgtgtgtgcaatgatgctgtaattagaaacaatactctaatggggaagccaacagaaggggccttaattgctcttgcaatgaagatgggtcttgatggacttcaacaagactacatcagaaaagctgaatacccttttagctctgagcaaaagtggatggctgttaagtgtgtacaccgaacacagcaggacagaccagagatttgttttatgaaaggtgcttacgaacaagtaattaagtactgtactacataccagagcaaagggcagaccttgacacttactcagcagcagagagatgtgtaccaacaagagaaggcacgcatgggctcagcgggactcagagttcttgctttggcttctggtcctgaactgggacagctgacatttcttggcttggtgggaatcattgatccacctagaactggtgtgaaagaagctgttacaacactcattgcctcaggagtatcaataaaaatgattactggagattcacaggagactgcagttgcaatcgccagtcgtctgggattgtattccaaaacttcccagtcagtctcaggagaagaaatagatgcaatggatgttcagcagctttcacaaatagtaccaaaggttgcagtattttacagagctagcccaaggcacaagatgaaaattattaagtcgctacagaagaacggttcagttgtagccatgacaggagatggagtaaatgatgcagttgctctgaaggctgcagacattggagttgcgatgggccagactggtacagatgtttgcaaagaggcagcagacatgatcctagtggatgatgattttcaaaccataatgtctgcaatcgaagagggtaaagggatttataataacattaaaaatttcgttagattccagctgagcacgagtatagcagcattaactttaatctcattggctacattaatgaactttcctaatcctctcaatgccatgcagattttgtggatcaatattattatggatggacccccagctcagagccttggagtagaaccagtggataaagatgtcattcgtaaacctcctcgcaactggaaagacagcattttgactaaaaacttgatacttaaaatacttgtttcatcaataatcattgtttgtgggactttgtttgtcttctggcgtgagctacgagacaatgtgattacacctcgagacacaacaatgaccttcacatgctttgtgttttttgacatgttcaatgcactaagttccagatcccagaccaagtctgtgtttgagattggactctgcagtaatagaatgttttgctatgcagttcttggatccatcatgggacaattactagttatttactttcctccgcttcagaaggtttttcagactgagagcctaagcatactggatctgttgtttcttttgggtctcacctcatcagtgtgcatagtggcagaaattataaagaaggttgaaaggagcagggaaaagatccagaagcatgttagttcgacatcatcatcttttcttgaagtatgatgcatattgcattattttatttgcaaactaggaattgcagtctgaggatcatttagaagggcaagttcaagaggatatgaagatttgagaactttttaactattcattgactaaaaatgaacattaatgttaaagacttaagactttaacctgctggcagtcccaaatgaaattatgcaactttgatatcatattccttgatttaaattggcttttgtgattgagtgaaactttataaagcatatggtcagttatttaattaaaaaggcaaaacctgaaccaccttctgcacttaaagaagtctaacagtacaaatacactatctatcttagatagatatatttttttttatttttaaatattgtactatttatggtggtggggctttcttactaatacacaaataaatttaatcatttcaaaggcattctatttggtttagaagttgattcccaggagtgccatatttcagctactgtatttcctttttcttgtaatgtaagcagctcagataccatgtgctatcatttttgtatcaagttttttgcacaggatgtgaccactgtcagatcactgttcttttctttctttttgtgattgaaaagcctatactacaatttgaagtaaatttttgtttttcttagtaagtgtaaatggttgctttatttttattttaaaaaggtatgtctttggtttggcagaattcatgcagggctatcaagtggtgttctagggtaacagtgtccataattaacgcttagtcatagagtcaaaaacatttaagactgattgggttgaagtttataataaattatattaacatgtcttcctttttgaggtaaagatatatactttgtcaaatatcattttgtcatcctctaaatataaatccaaatacctcagctaagtaattctattttattatttttactgttatgtatgtttttaatcatatttcttaggaagtataggctactggacttagaataaaaagtccccaaacccaaacaaatggtttatgaaccagagtatatgtggaagattctttgctggtcttgctctgtgtgcatctgaagcttctttggcctagattttagcacaaacctgagtatatctcttctactttcatcatgtgttctgtaccttctttttgtttcattgggcatgctagggaaataggtggattttgtgtgtaatgccatcagtttttatgaaagcttgatgaggtataggtcatttgttttgagtatgtgggccagaaatttaaaattagaaatttgtttttctgttgagtatataaacaaaaattggtcccaattctaacaggtttaatccttcttgaagccaataagttttatcttttataatctgtcaggatgaaccactccttagcttttatccaatattaaactgcaagtgttagcactgaaatattgtcattgatagggaaaatatctattctttgagtcattgttactgaggcagttgagtgtaaggagctggctgcagtttattctacttaaccctttaaggctgaattgtcaaatgtacattgttccatgtcgttagatggaacatggaagccattgtctaatcaactctatcattagtgacttgatgtctcataccttaattttgtaatgatttttattctctgttacaaagacttgaaatacgtattaaatgcacgttaatgttttgctttgcattttaggttcagattatgacttgattgaaataaatgtgcctatacattcatttgctttgtactataaaaataaaaatgatttcttaagttaatgacatcccagtggggactattagcattaaaattatccatatggatgctgaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:27032 -> Molecular function: GO:0004871 [signal transducer activity] evidence: IMP
            GeneID:27032 -> Molecular function: GO:0005388 [calcium-transporting ATPase activity] evidence: IDA
            GeneID:27032 -> Molecular function: GO:0005388 [calcium-transporting ATPase activity] evidence: IMP
            GeneID:27032 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IDA
            GeneID:27032 -> Molecular function: GO:0005524 [ATP binding] evidence: IDA
            GeneID:27032 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
            GeneID:27032 -> Molecular function: GO:0015410 [manganese-transporting ATPase activity] evidence: IDA
            GeneID:27032 -> Molecular function: GO:0030145 [manganese ion binding] evidence: IDA
            GeneID:27032 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
            GeneID:27032 -> Biological process: GO:0006816 [calcium ion transport] evidence: IDA
            GeneID:27032 -> Biological process: GO:0006816 [calcium ion transport] evidence: IMP
            GeneID:27032 -> Biological process: GO:0006828 [manganese ion transport] evidence: IDA
            GeneID:27032 -> Biological process: GO:0006874 [cellular calcium ion homeostasis] evidence: IDA
            GeneID:27032 -> Biological process: GO:0006874 [cellular calcium ion homeostasis] evidence: IMP
            GeneID:27032 -> Biological process: GO:0007165 [signal transduction] evidence: IMP
            GeneID:27032 -> Biological process: GO:0008544 [epidermis development] evidence: IMP
            GeneID:27032 -> Biological process: GO:0016339 [calcium-dependent cell-cell adhesion] evidence: IMP
            GeneID:27032 -> Biological process: GO:0030026 [cellular manganese ion homeostasis] evidence: IDA
            GeneID:27032 -> Biological process: GO:0031532 [actin cytoskeleton reorganization] evidence: IMP
            GeneID:27032 -> Biological process: GO:0032468 [Golgi calcium ion homeostasis] evidence: IMP
            GeneID:27032 -> Biological process: GO:0032472 [Golgi calcium ion transport] evidence: IMP
            GeneID:27032 -> Biological process: GO:0034220 [ion transmembrane transport] evidence: TAS
            GeneID:27032 -> Biological process: GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IMP
            GeneID:27032 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS
            GeneID:27032 -> Cellular component: GO:0000139 [Golgi membrane] evidence: IDA
            GeneID:27032 -> Cellular component: GO:0000139 [Golgi membrane] evidence: TAS
            GeneID:27032 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA
            GeneID:27032 -> Cellular component: GO:0005802 [trans-Golgi network] evidence: IDA
            GeneID:27032 -> Cellular component: GO:0016021 [integral to membrane] evidence: NAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_055197 -> EC 3.6.3.8

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.