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2025-05-12 01:43:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199181 5040 bp mRNA linear PRI 16-JUN-2013
DEFINITION Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1),
transcript variant 7, mRNA.
ACCESSION NM_001199181
VERSION NM_001199181.1 GI:312836766
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 5040)
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 5040)
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 5040)
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 5040)
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 5040)
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 5040)
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 5040)
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 5040)
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 5040)
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 5040)
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 DC422788.1, AK304374.1,
AB037768.1, BF669202.1, BF675663.1 and BQ220831.1.
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 (7) lacks the 3' exon and contains
an alternate 3' segment, as compared to variant 6. The resulting
isoform (2b) has a shorter and distinct C-terminus, as compared to
isoform 2a.
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 :: AK304374.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025083 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-245 DC422788.1 1-245
246-1276 AK304374.1 2-1032
1277-4063 AB037768.1 1289-4075
4064-4566 BF669202.1 26-528
4567-4584 BF675663.1 302-319
4585-5040 BQ220831.1 1-456
FEATURES Location/Qualifiers
source 1..5040
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q22.1"
gene 1..5040
/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..404
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 22
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:184042602"
variation 66
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:74513004"
variation 180
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:71333679"
variation 189
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1316658"
misc_feature 255..257
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/note="upstream in-frame stop codon"
CDS 297..3158
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/EC_number="3.6.3.8"
/note="isoform 2b is encoded by transcript variant 7;
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 2b"
/protein_id="NP_001186110.1"
/db_xref="GI:312836767"
/db_xref="GeneID:27032"
/db_xref="HGNC:13211"
/db_xref="MIM:604384"
/translation="
MDSLLPPSRFSYFKKYPLHAIRRYLSTLRNQRAEEQVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGWNEFDISEDEPLWKKYISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQEYRSEKSLEELSKLVPPECHCVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRLFEAVDLSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAFMGTLVRCGKAKGVVIGTGENSEFGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGIIMLVGWLLGKDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSDKTGTLTKNEMTVTHIFTSDGLHAEVTGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNTLMGKPTEGALIALAMKMGLDGLQQDYIRKAEYPFSSEQKWMAVKCVHRTQQDRPEICFMKGAYEQVIKYCTTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVLALASGPELGQLTFLGLVGIIDPPRTGVKEAVTTLIASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEIDAMDVQQLSQIVPKVAVFYRASPRHKMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVAMGQTGTDVCKEAADMILVDDDFQTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGVEPVDKDVIRKPPRNWKDSILTKNLILKILVSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCSNRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVERSREKIQKHVSSTSSSFLEV
"
misc_feature 465..3107
/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 474..680
/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 756..1418
/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 1623..1877
/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 2049..2381
/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 2106..2108
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/note="motif II; other site"
/db_xref="CDD:119389"
misc_feature 2574..3092
/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"
exon 405..515
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 405
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:148243014"
variation 412
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141384562"
variation 497
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369329097"
exon 516..632
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 544
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146272850"
variation 578
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:138085702"
variation 579
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:76522938"
exon 633..722
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
exon 723..758
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 735
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142366167"
exon 759..820
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 778
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:370168782"
variation 811
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:145930763"
exon 821..929
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 822
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139529865"
variation 825
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182847851"
variation 884
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368726188"
variation 898
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372317337"
exon 930..1085
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 945
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:200602419"
variation 983
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2760272"
variation 1033
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200427297"
variation 1034
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6810181"
exon 1086..1154
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1089
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143199078"
variation 1145
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370992502"
variation 1152
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:4289320"
exon 1155..1230
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1180
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200665127"
variation 1208
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377696166"
exon 1231..1297
/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:116485868"
variation 1245
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369944125"
variation 1274
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374036911"
variation 1292
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:61731514"
exon 1298..1422
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1308
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853012"
variation 1342
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:201027935"
variation 1349
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147959633"
variation 1366
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369940049"
exon 1423..1520
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1470
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201217185"
variation 1502
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:116460767"
variation 1509
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368337412"
variation 1510
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372425288"
variation 1516
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200105766"
exon 1521..1616
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1544
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141822193"
variation 1546
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:137896406"
variation 1588
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369250519"
exon 1617..1706
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1618
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201854784"
variation 1638
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376162348"
variation 1654
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370539073"
variation 1662
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:145370264"
variation 1664
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115441492"
exon 1707..1811
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1746
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:41434650"
variation 1752
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114743659"
variation 1800
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853013"
exon 1812..1968
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1838
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11542182"
variation 1840
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141010361"
variation 1867
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:137853014"
variation 1901
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150217507"
exon 1969..2139
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2008
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:113724048"
variation 2013
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138617225"
variation 2021
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:61731516"
variation 2058
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201861630"
variation 2072
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145413274"
variation 2081
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114319700"
variation 2084
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115516433"
variation 2088
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142641883"
exon 2140..2237
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2146
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200576649"
variation 2149
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853015"
variation 2150
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368679995"
variation 2181
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116094927"
variation 2183
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200047787"
variation 2200
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375115576"
exon 2238..2288
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
exon 2289..2455
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2290
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145949576"
variation 2327
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113436071"
variation 2446
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199765678"
exon 2456..2524
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2465
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148190902"
exon 2525..2641
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2583
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:371236506"
exon 2642..2789
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2676
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150745965"
variation 2711
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369430850"
exon 2790..2885
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2841
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1053084"
exon 2886..3027
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2899
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:375112180"
variation 2954
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:193111792"
variation 2996
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:16835513"
variation 3011
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144839903"
exon 3028..5010
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 3062
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114499538"
STS 3080..3914
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/standard_name="ATP2C1_3811"
/db_xref="UniSTS:463236"
variation 3131
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372102536"
variation 3255
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="t"
/db_xref="dbSNP:34966299"
variation 3333..3334
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="a"
/db_xref="dbSNP:11434122"
variation 3386
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:78540252"
variation 3404
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:188602556"
variation 3500
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="t"
/db_xref="dbSNP:200037424"
variation 3509
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:11542183"
variation 3566
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373315400"
variation 3651..3655
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="tgtaa"
/db_xref="dbSNP:141448272"
variation 3777
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372638968"
variation 3835
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:76326281"
variation 3844
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150024961"
variation 3882
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145351517"
variation 3913
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149202818"
variation 3983
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374738042"
variation 4039
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:181188000"
variation 4089
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:186817851"
variation 4156
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116671177"
variation 4389
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:190081792"
variation 4584
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142449501"
variation 4628
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147964547"
variation 4691
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:182142799"
variation 4703
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372789446"
variation 4710
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:186240603"
STS 4727..4868
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/standard_name="SHGC-77341"
/db_xref="UniSTS:6081"
variation 4978
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:72628536"
variation 4997
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141516276"
variation 5006
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:12330546"
ORIGIN
agtcgcatcactaccactaagcaatttgcattctgtggaccagcccctgaattcctattgccctttgggcattgcatttctggacgcttctagacagtgttcatacttggctgtctggtttcaccaggaactctacccaaaagaggaaacagcaaggagaacatttgctttgtttgtaggagggaagttgtcgagctacaaacaaatctttaggcatctgaggaattgctaagtttctaatttcatatggttgctgacaaggaggtgcagacaaggaccctcttgctttcctcactatggatagtctgttgcctccatctagattctcttatttcaaaaaatatcctctccatgcaattaggagatatttatcgacgctgagaaaccaaagagccgaagaacaggttgcacgttttcaaaaaatacctaatggtgaaaatgagacaatgattcctgtattgacatcaaaaaaagcaagtgaattaccagtcagtgaagttgcaagcattctccaagctgatcttcagaatggtctaaacaaatgtgaagttagtcataggcgagcctttcatggctggaatgagtttgatattagtgaagatgagccactgtggaagaagtatatttctcagtttaaaaatccccttattatgctgcttctggcttctgcagtcatcagtgttttaatgcatcagtttgatgatgccgtcagtatcactgtggcaatacttatcgttgttacagttgcctttgttcaggaatatcgttcagaaaaatctcttgaagaattgagtaaacttgtgccaccagaatgccattgtgtgcgtgaaggaaaattggagcatacacttgcccgagacttggttccaggtgatacagtttgcctttctgttggggatagagttcctgctgacttacgcttgtttgaggctgtggatctttccattgatgagtccagcttgacaggtgagacaacgccttgttctaaggtgacagctcctcagccagctgcaactaatggagatcttgcatcgagaagtaacattgcctttatgggaacactggtcagatgtggcaaagcaaagggtgttgtcattggaacaggagaaaattctgaatttggggaggtttttaaaatgatgcaagcagaagaggcaccaaaaacccctctgcagaagagcatggacctcttaggaaaacaactttccttttactcctttggtataataggaatcatcatgttggttggctggttactgggaaaagatatcctggaaatgtttactattagtgtaagtttggctgtagcagcaattcctgaaggtctccccattgtggtcacagtgacgctagctcttggtgttatgagaatggtgaagaaaagggccattgtgaaaaagctgcctattgttgaaactctgggctgctgtaatgtgatttgttcagataaaactggaacactgacgaagaatgaaatgactgttactcacatatttacttcagatggtctgcatgctgaggttactggagttggctataatcaatttggggaagtgattgttgatggtgatgttgttcatggattctataacccagctgttagcagaattgttgaggcgggctgtgtgtgcaatgatgctgtaattagaaacaatactctaatggggaagccaacagaaggggccttaattgctcttgcaatgaagatgggtcttgatggacttcaacaagactacatcagaaaagctgaatacccttttagctctgagcaaaagtggatggctgttaagtgtgtacaccgaacacagcaggacagaccagagatttgttttatgaaaggtgcttacgaacaagtaattaagtactgtactacataccagagcaaagggcagaccttgacacttactcagcagcagagagatgtgtaccaacaagagaaggcacgcatgggctcagcgggactcagagttcttgctttggcttctggtcctgaactgggacagctgacatttcttggcttggtgggaatcattgatccacctagaactggtgtgaaagaagctgttacaacactcattgcctcaggagtatcaataaaaatgattactggagattcacaggagactgcagttgcaatcgccagtcgtctgggattgtattccaaaacttcccagtcagtctcaggagaagaaatagatgcaatggatgttcagcagctttcacaaatagtaccaaaggttgcagtattttacagagctagcccaaggcacaagatgaaaattattaagtcgctacagaagaacggttcagttgtagccatgacaggagatggagtaaatgatgcagttgctctgaaggctgcagacattggagttgcgatgggccagactggtacagatgtttgcaaagaggcagcagacatgatcctagtggatgatgattttcaaaccataatgtctgcaatcgaagagggtaaagggatttataataacattaaaaatttcgttagattccagctgagcacgagtatagcagcattaactttaatctcattggctacattaatgaactttcctaatcctctcaatgccatgcagattttgtggatcaatattattatggatggacccccagctcagagccttggagtagaaccagtggataaagatgtcattcgtaaacctcctcgcaactggaaagacagcattttgactaaaaacttgatacttaaaatacttgtttcatcaataatcattgtttgtgggactttgtttgtcttctggcgtgagctacgagacaatgtgattacacctcgagacacaacaatgaccttcacatgctttgtgttttttgacatgttcaatgcactaagttccagatcccagaccaagtctgtgtttgagattggactctgcagtaatagaatgttttgctatgcagttcttggatccatcatgggacaattactagttatttactttcctccgcttcagaaggtttttcagactgagagcctaagcatactggatctgttgtttcttttgggtctcacctcatcagtgtgcatagtggcagaaattataaagaaggttgaaaggagcagggaaaagatccagaagcatgttagttcgacatcatcatcttttcttgaagtatgatgcatattgcattattttatttgcaaactaggaattgcagtctgaggatcatttagaagggcaagttcaagaggatatgaagatttgagaactttttaactattcattgactaaaaatgaacattaatgttaaagacttaagactttaacctgctggcagtcccaaatgaaattatgcaactttgatatcatattccttgatttaaattggcttttgtgattgagtgaaactttataaagcatatggtcagttatttaattaaaaaggcaaaacctgaaccaccttctgcacttaaagaagtctaacagtacaaatacactatctatcttagatagatatatttttttttatttttaaatattgtactatttatggtggtggggctttcttactaatacacaaataaatttaatcatttcaaaggcattctatttggtttagaagttgattcccaggagtgccatatttcagctactgtatttcctttttcttgtaatgtaagcagctcagataccatgtgctatcatttttgtatcaagttttttgcacaggatgtgaccactgtcagatcactgttcttttctttctttttgtgattgaaaagcctatactacaatttgaagtaaatttttgtttttcttagtaagtgtaaatggttgctttatttttattttaaaaaggtatgtctttggtttggcagaattcatgcagggctatcaagtggtgttctagggtaacagtgtccataattaacgcttagtcatagagtcaaaaacatttaagactgattgggttgaagtttataataaattatattaacatgtcttcctttttgaggtaaagatatatactttgtcaaatatcattttgtcatcctctaaatataaatccaaatacctcagctaagtaattctattttattatttttactgttatgtatgtttttaatcatatttcttaggaagtataggctactggacttagaataaaaagtccccaaacccaaacaaatggtttatgaaccagagtatatgtggaagattctttgctggtcttgctctgtgtgcatctgaagcttctttggcctagattttagcacaaacctgagtatatctcttctactttcatcatgtgttctgtaccttctttttgtttcattgggcatgctagggaaataggtggattttgtgtgtaatgccatcagtttttatgaaagcttgatgaggtataggtcatttgttttgagtatgtgggccagaaatttaaaattagaaatttgtttttctgttgagtatataaacaaaaattggtcccaattctaacaggtttaatccttcttgaagccaataagttttatcttttataatctgtcaggatgaaccactccttagcttttatccaatattaaactgcaagtgttagcactgaaatattgtcattgatagggaaaatatctattctttgagtcattgttactgaggcagttgagtgtaaggagctggctgcagtttattctacttaaccctttaaggctgaattgtcaaatgtacattgttccatgtcgttagatggaacatggaagccattgtctaatcaactctatcattagtgacttgatgtctcataccttaattttgtaatgatttttattctctgttacaaagacttgaaatacgtattaaatgcacgttaatgttttgctttgcattttaggttcagattatgacttgattgaaataaatgtgcctatacattcatttgctttgtactataaaaataaaaatgatttcttaagttaatgacatcccagtggggactattagcattaaaattatccatatggatgctgaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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_001186110 -> EC 3.6.3.8
by
@meso_cacase at
DBCLS
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