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2025-05-12 01:34:35, 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 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
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