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2025-05-12 01:48:58, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199184 4913 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1),
transcript variant 10, mRNA.
ACCESSION NM_001199184
VERSION NM_001199184.1 GI:312836772
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 4913)
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 4913)
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 4913)
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 4913)
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 4913)
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 4913)
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 4913)
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 4913)
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 4913)
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 4913)
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 DC345627.1, AF189723.2,
AC055733.16 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 (10) has an alternate 5' exon,
resulting in a downstream AUG start codon, lacks the 3' exon and
contains an alternate 3' segment, as compared to variant 6. The
resulting isoform (1f) is shorter at the N-terminus and has a
shorter and distinct C-terminus, as compared to isoform 2a.
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 :: AF189723.2, AK304175.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025086 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-162 DC345627.1 1-162
163-3336 AF189723.2 46-3219
3337-4457 AC055733.16 41222-42342 c
4458-4913 BQ220831.1 1-456
FEATURES Location/Qualifiers
source 1..4913
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q22.1"
gene 1..4913
/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..277
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
misc_feature 62..64
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/note="upstream in-frame stop codon"
variation 75
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377638434"
variation 112
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370802021"
variation 130
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:185723567"
variation 135
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:373283492"
variation 162
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:852218"
exon 278..388
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 278
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:148243014"
variation 285
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141384562"
CDS 320..3031
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/EC_number="3.6.3.8"
/note="isoform 1f is encoded by transcript variant 10;
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 1f"
/protein_id="NP_001186113.1"
/db_xref="GI:312836773"
/db_xref="CCDS:CCDS56281.1"
/db_xref="GeneID:27032"
/db_xref="HGNC:13211"
/db_xref="MIM:604384"
/translation="
MIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGWNEFDISEDEPLWKKYISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQEYRSEKSLEELSKLVPPECHCVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRLFEAVDLSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAFMGTLVRCGKAKGVVIGTGENSEFGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGIIMLVGWLLGKDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSDKTGTLTKNEMTVTHIFTSDGLHAEVTGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNTLMGKPTEGALIALAMKMGLDGLQQDYIRKAEYPFSSEQKWMAVKCVHRTQQDRPEICFMKGAYEQVIKYCTTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVLALASGPELGQLTFLGLVGIIDPPRTGVKEAVTTLIASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEIDAMDVQQLSQIVPKVAVFYRASPRHKMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVAMGQTGTDVCKEAADMILVDDDFQTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGVEPVDKDVIRKPPRNWKDSILTKNLILKILVSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCSNRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVERSREKIQKHVSSTSSSFLEV
"
misc_feature 338..2980
/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 347..553
/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 629..1291
/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 1496..1750
/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 1922..2254
/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 1979..1981
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/note="motif II; other site"
/db_xref="CDD:119389"
misc_feature 2447..2965
/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"
variation 370
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369329097"
exon 389..505
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 417
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146272850"
variation 451
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:138085702"
variation 452
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:76522938"
exon 506..595
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
exon 596..631
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 608
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142366167"
exon 632..693
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 651
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:370168782"
variation 684
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:145930763"
exon 694..802
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 695
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139529865"
variation 698
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182847851"
variation 757
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368726188"
variation 771
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372317337"
exon 803..958
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 818
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:200602419"
variation 856
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2760272"
variation 906
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200427297"
variation 907
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6810181"
exon 959..1027
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 962
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143199078"
variation 1018
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370992502"
variation 1025
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:4289320"
exon 1028..1103
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1053
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200665127"
variation 1081
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377696166"
exon 1104..1170
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1105
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:116485868"
variation 1118
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369944125"
variation 1147
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374036911"
variation 1165
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:61731514"
exon 1171..1295
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1181
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853012"
variation 1215
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:201027935"
variation 1222
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147959633"
variation 1239
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369940049"
exon 1296..1393
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1343
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201217185"
variation 1375
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:116460767"
variation 1382
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368337412"
variation 1383
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372425288"
variation 1389
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200105766"
exon 1394..1489
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1417
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141822193"
variation 1419
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:137896406"
variation 1461
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369250519"
exon 1490..1579
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1491
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201854784"
variation 1511
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376162348"
variation 1527
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370539073"
variation 1535
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:145370264"
variation 1537
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115441492"
exon 1580..1684
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1619
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:41434650"
variation 1625
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114743659"
variation 1673
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853013"
exon 1685..1841
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1711
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11542182"
variation 1713
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141010361"
variation 1740
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:137853014"
variation 1774
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150217507"
exon 1842..2012
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1881
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:113724048"
variation 1886
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138617225"
variation 1894
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:61731516"
variation 1931
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201861630"
variation 1945
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145413274"
variation 1954
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114319700"
variation 1957
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115516433"
variation 1961
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142641883"
exon 2013..2110
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2019
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200576649"
variation 2022
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853015"
variation 2023
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368679995"
variation 2054
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116094927"
variation 2056
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200047787"
variation 2073
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375115576"
exon 2111..2161
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
exon 2162..2328
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2163
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145949576"
variation 2200
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113436071"
variation 2319
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199765678"
exon 2329..2397
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2338
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148190902"
exon 2398..2514
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2456
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:371236506"
exon 2515..2662
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2549
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150745965"
variation 2584
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369430850"
exon 2663..2758
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2714
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1053084"
exon 2759..2900
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2772
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:375112180"
variation 2827
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:193111792"
variation 2869
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:16835513"
variation 2884
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144839903"
exon 2901..4883
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2935
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114499538"
STS 2953..3787
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/standard_name="ATP2C1_3811"
/db_xref="UniSTS:463236"
variation 3004
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372102536"
variation 3128
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="t"
/db_xref="dbSNP:34966299"
variation 3206..3207
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="a"
/db_xref="dbSNP:11434122"
variation 3259
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:78540252"
variation 3277
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:188602556"
variation 3373
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="t"
/db_xref="dbSNP:200037424"
variation 3382
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:11542183"
variation 3439
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373315400"
variation 3524..3528
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="tgtaa"
/db_xref="dbSNP:141448272"
variation 3650
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372638968"
variation 3708
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:76326281"
variation 3717
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150024961"
variation 3755
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145351517"
variation 3786
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149202818"
variation 3856
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374738042"
variation 3912
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:181188000"
variation 3962
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:186817851"
variation 4029
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116671177"
variation 4262
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:190081792"
variation 4457
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142449501"
variation 4501
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147964547"
variation 4564
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:182142799"
variation 4576
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372789446"
variation 4583
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:186240603"
STS 4600..4741
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/standard_name="SHGC-77341"
/db_xref="UniSTS:6081"
variation 4851
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:72628536"
polyA_signal 4857..4862
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
variation 4870
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141516276"
variation 4879
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:12330546"
polyA_site 4883
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
ORIGIN
gcgcaggagtcggaggcgggagcagaccagcacggcctcgcggagccggcccggcggaccgtgacgggtcccctcacctcctcttctctcccctccccgcccgccctctctccctcccttcctccctcccgctcgcttcttctcacgccgggagcaggctcccgcctcgcaccgctgccccgcgagcagctcctcttctcccgaggcgcgcggggcgcccccgcgagccccgcggctgagaccccgcagcctggaggagggctgtccggggctttgggttgcacgttttcaaaaaatacctaatggtgaaaatgagacaatgattcctgtattgacatcaaaaaaagcaagtgaattaccagtcagtgaagttgcaagcattctccaagctgatcttcagaatggtctaaacaaatgtgaagttagtcataggcgagcctttcatggctggaatgagtttgatattagtgaagatgagccactgtggaagaagtatatttctcagtttaaaaatccccttattatgctgcttctggcttctgcagtcatcagtgttttaatgcatcagtttgatgatgccgtcagtatcactgtggcaatacttatcgttgttacagttgcctttgttcaggaatatcgttcagaaaaatctcttgaagaattgagtaaacttgtgccaccagaatgccattgtgtgcgtgaaggaaaattggagcatacacttgcccgagacttggttccaggtgatacagtttgcctttctgttggggatagagttcctgctgacttacgcttgtttgaggctgtggatctttccattgatgagtccagcttgacaggtgagacaacgccttgttctaaggtgacagctcctcagccagctgcaactaatggagatcttgcatcgagaagtaacattgcctttatgggaacactggtcagatgtggcaaagcaaagggtgttgtcattggaacaggagaaaattctgaatttggggaggtttttaaaatgatgcaagcagaagaggcaccaaaaacccctctgcagaagagcatggacctcttaggaaaacaactttccttttactcctttggtataataggaatcatcatgttggttggctggttactgggaaaagatatcctggaaatgtttactattagtgtaagtttggctgtagcagcaattcctgaaggtctccccattgtggtcacagtgacgctagctcttggtgttatgagaatggtgaagaaaagggccattgtgaaaaagctgcctattgttgaaactctgggctgctgtaatgtgatttgttcagataaaactggaacactgacgaagaatgaaatgactgttactcacatatttacttcagatggtctgcatgctgaggttactggagttggctataatcaatttggggaagtgattgttgatggtgatgttgttcatggattctataacccagctgttagcagaattgttgaggcgggctgtgtgtgcaatgatgctgtaattagaaacaatactctaatggggaagccaacagaaggggccttaattgctcttgcaatgaagatgggtcttgatggacttcaacaagactacatcagaaaagctgaatacccttttagctctgagcaaaagtggatggctgttaagtgtgtacaccgaacacagcaggacagaccagagatttgttttatgaaaggtgcttacgaacaagtaattaagtactgtactacataccagagcaaagggcagaccttgacacttactcagcagcagagagatgtgtaccaacaagagaaggcacgcatgggctcagcgggactcagagttcttgctttggcttctggtcctgaactgggacagctgacatttcttggcttggtgggaatcattgatccacctagaactggtgtgaaagaagctgttacaacactcattgcctcaggagtatcaataaaaatgattactggagattcacaggagactgcagttgcaatcgccagtcgtctgggattgtattccaaaacttcccagtcagtctcaggagaagaaatagatgcaatggatgttcagcagctttcacaaatagtaccaaaggttgcagtattttacagagctagcccaaggcacaagatgaaaattattaagtcgctacagaagaacggttcagttgtagccatgacaggagatggagtaaatgatgcagttgctctgaaggctgcagacattggagttgcgatgggccagactggtacagatgtttgcaaagaggcagcagacatgatcctagtggatgatgattttcaaaccataatgtctgcaatcgaagagggtaaagggatttataataacattaaaaatttcgttagattccagctgagcacgagtatagcagcattaactttaatctcattggctacattaatgaactttcctaatcctctcaatgccatgcagattttgtggatcaatattattatggatggacccccagctcagagccttggagtagaaccagtggataaagatgtcattcgtaaacctcctcgcaactggaaagacagcattttgactaaaaacttgatacttaaaatacttgtttcatcaataatcattgtttgtgggactttgtttgtcttctggcgtgagctacgagacaatgtgattacacctcgagacacaacaatgaccttcacatgctttgtgttttttgacatgttcaatgcactaagttccagatcccagaccaagtctgtgtttgagattggactctgcagtaatagaatgttttgctatgcagttcttggatccatcatgggacaattactagttatttactttcctccgcttcagaaggtttttcagactgagagcctaagcatactggatctgttgtttcttttgggtctcacctcatcagtgtgcatagtggcagaaattataaagaaggttgaaaggagcagggaaaagatccagaagcatgttagttcgacatcatcatcttttcttgaagtatgatgcatattgcattattttatttgcaaactaggaattgcagtctgaggatcatttagaagggcaagttcaagaggatatgaagatttgagaactttttaactattcattgactaaaaatgaacattaatgttaaagacttaagactttaacctgctggcagtcccaaatgaaattatgcaactttgatatcatattccttgatttaaattggcttttgtgattgagtgaaactttataaagcatatggtcagttatttaattaaaaaggcaaaacctgaaccaccttctgcacttaaagaagtctaacagtacaaatacactatctatcttagatagatatatttttttttatttttaaatattgtactatttatggtggtggggctttcttactaatacacaaataaatttaatcatttcaaaggcattctatttggtttagaagttgattcccaggagtgccatatttcagctactgtatttcctttttcttgtaatgtaagcagctcagataccatgtgctatcatttttgtatcaagttttttgcacaggatgtgaccactgtcagatcactgttcttttctttctttttgtgattgaaaagcctatactacaatttgaagtaaatttttgtttttcttagtaagtgtaaatggttgctttatttttattttaaaaaggtatgtctttggtttggcagaattcatgcagggctatcaagtggtgttctagggtaacagtgtccataattaacgcttagtcatagagtcaaaaacatttaagactgattgggttgaagtttataataaattatattaacatgtcttcctttttgaggtaaagatatatactttgtcaaatatcattttgtcatcctctaaatataaatccaaatacctcagctaagtaattctattttattatttttactgttatgtatgtttttaatcatatttcttaggaagtataggctactggacttagaataaaaagtccccaaacccaaacaaatggtttatgaaccagagtatatgtggaagattctttgctggtcttgctctgtgtgcatctgaagcttctttggcctagattttagcacaaacctgagtatatctcttctactttcatcatgtgttctgtaccttctttttgtttcattgggcatgctagggaaataggtggattttgtgtgtaatgccatcagtttttatgaaagcttgatgaggtataggtcatttgttttgagtatgtgggccagaaatttaaaattagaaatttgtttttctgttgagtatataaacaaaaattggtcccaattctaacaggtttaatccttcttgaagccaataagttttatcttttataatctgtcaggatgaaccactccttagcttttatccaatattaaactgcaagtgttagcactgaaatattgtcattgatagggaaaatatctattctttgagtcattgttactgaggcagttgagtgtaaggagctggctgcagtttattctacttaaccctttaaggctgaattgtcaaatgtacattgttccatgtcgttagatggaacatggaagccattgtctaatcaactctatcattagtgacttgatgtctcataccttaattttgtaatgatttttattctctgttacaaagacttgaaatacgtattaaatgcacgttaatgttttgctttgcattttaggttcagattatgacttgattgaaataaatgtgcctatacattcatttgctttgtactataaaaataaaaatgatttcttaagttaatgacatcccagtggggactattagcattaaaattatccatatggatgctgaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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_001186113 -> EC 3.6.3.8
by
@meso_cacase at
DBCLS
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