Home |
Help |
Advanced search
2025-05-12 01:47:57, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199179 5051 bp mRNA linear PRI 16-JUN-2013
DEFINITION Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1),
transcript variant 5, mRNA.
ACCESSION NM_001199179
VERSION NM_001199179.1 GI:312836762
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 5051)
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 5051)
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 5051)
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 5051)
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 5051)
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 5051)
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 5051)
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 5051)
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 5051)
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 5051)
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 AB037768.1, 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 (5) has an alternate 5' sequence,
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.
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 :: AB037768.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-434 AB037768.1 1-434
435-4074 AB037768.1 436-4075
4075-4927 AC055733.16 40890-41742 c
4928-5051 BQ220831.1 333-456
FEATURES Location/Qualifiers
source 1..5051
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q22.1"
gene 1..5051
/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..347
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 13
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141589843"
variation 27
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:75314013"
variation 51
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374167562"
variation 145
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377638434"
variation 182
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370802021"
variation 200
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:185723567"
variation 205
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:373283492"
variation 232
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:852218"
exon 348..415
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
misc_feature 377..379
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/note="upstream in-frame stop codon"
variation 377
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201306089"
variation 394
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375566516"
CDS 410..3169
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/EC_number="3.6.3.8"
/note="isoform 1a is encoded by transcript variant 5;
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_001186108.1"
/db_xref="GI:312836763"
/db_xref="CCDS:CCDS46914.1"
/db_xref="GeneID:27032"
/db_xref="HGNC:13211"
/db_xref="MIM:604384"
/translation="
MKVARFQKIPNGENETMIPVLTSKKASELPVSEVASILQADLQNGLNKCEVSHRRAFHGWNEFDISEDEPLWKKYISQFKNPLIMLLLASAVISVLMHQFDDAVSITVAILIVVTVAFVQEYRSEKSLEELSKLVPPECHCVREGKLEHTLARDLVPGDTVCLSVGDRVPADLRLFEAVDLSIDESSLTGETTPCSKVTAPQPAATNGDLASRSNIAFMGTLVRCGKAKGVVIGTGENSEFGEVFKMMQAEEAPKTPLQKSMDLLGKQLSFYSFGIIGIIMLVGWLLGKDILEMFTISVSLAVAAIPEGLPIVVTVTLALGVMRMVKKRAIVKKLPIVETLGCCNVICSDKTGTLTKNEMTVTHIFTSDGLHAEVTGVGYNQFGEVIVDGDVVHGFYNPAVSRIVEAGCVCNDAVIRNNTLMGKPTEGALIALAMKMGLDGLQQDYIRKAEYPFSSEQKWMAVKCVHRTQQDRPEICFMKGAYEQVIKYCTTYQSKGQTLTLTQQQRDVYQQEKARMGSAGLRVLALASGPELGQLTFLGLVGIIDPPRTGVKEAVTTLIASGVSIKMITGDSQETAVAIASRLGLYSKTSQSVSGEEIDAMDVQQLSQIVPKVAVFYRASPRHKMKIIKSLQKNGSVVAMTGDGVNDAVALKAADIGVAMGQTGTDVCKEAADMILVDDDFQTIMSAIEEGKGIYNNIKNFVRFQLSTSIAALTLISLATLMNFPNPLNAMQILWINIIMDGPPAQSLGVEPVDKDVIRKPPRNWKDSILTKNLILKILVSSIIIVCGTLFVFWRELRDNVITPRDTTMTFTCFVFFDMFNALSSRSQTKSVFEIGLCSNRMFCYAVLGSIMGQLLVIYFPPLQKVFQTESLSILDLLFLLGLTSSVCIVAEIIKKVERSREKIQKHVSSTSSSFLEV
"
misc_feature 476..3118
/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 485..691
/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 620..682
/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 722..778
/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 767..1429
/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 1196..1255
/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 1292..1345
/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 1634..1888
/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 2060..2392
/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 2117..2119
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/note="motif II; other site"
/db_xref="CDD:119389"
misc_feature 2507..2566
/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 2585..3103
/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 2597..2659
/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 2720..2788
/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 2834..2893
/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 2933..2989
/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 3035..3097
/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 416..526
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 416
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:148243014"
variation 423
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141384562"
variation 508
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369329097"
exon 527..643
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 555
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146272850"
variation 589
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:138085702"
variation 590
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:76522938"
exon 644..733
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
exon 734..769
/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:142366167"
exon 770..831
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 789
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:370168782"
variation 822
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:145930763"
exon 832..940
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 833
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139529865"
variation 836
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182847851"
variation 895
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368726188"
variation 909
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372317337"
exon 941..1096
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 956
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:200602419"
variation 994
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2760272"
variation 1044
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200427297"
variation 1045
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:6810181"
exon 1097..1165
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1100
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143199078"
variation 1156
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370992502"
variation 1163
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:4289320"
exon 1166..1241
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1191
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200665127"
variation 1219
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377696166"
exon 1242..1308
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1243
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:116485868"
variation 1256
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369944125"
variation 1285
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374036911"
variation 1303
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:61731514"
exon 1309..1433
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1319
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853012"
variation 1353
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:201027935"
variation 1360
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147959633"
variation 1377
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369940049"
exon 1434..1531
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1481
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201217185"
variation 1513
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:116460767"
variation 1520
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368337412"
variation 1521
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372425288"
variation 1527
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200105766"
exon 1532..1627
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1555
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141822193"
variation 1557
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:137896406"
variation 1599
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369250519"
exon 1628..1717
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1629
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201854784"
variation 1649
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376162348"
variation 1665
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370539073"
variation 1673
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:145370264"
variation 1675
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115441492"
exon 1718..1822
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1757
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:41434650"
variation 1763
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114743659"
variation 1811
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853013"
exon 1823..1979
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 1849
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11542182"
variation 1851
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141010361"
variation 1878
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:137853014"
variation 1912
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150217507"
exon 1980..2150
/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="c"
/db_xref="dbSNP:113724048"
variation 2024
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:138617225"
variation 2032
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:61731516"
variation 2069
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201861630"
variation 2083
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145413274"
variation 2092
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114319700"
variation 2095
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115516433"
variation 2099
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142641883"
exon 2151..2248
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2157
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200576649"
variation 2160
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853015"
variation 2161
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368679995"
variation 2192
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116094927"
variation 2194
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200047787"
variation 2211
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375115576"
exon 2249..2299
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
exon 2300..2466
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2301
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145949576"
variation 2338
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113436071"
variation 2457
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199765678"
exon 2467..2535
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2476
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148190902"
exon 2536..2652
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2594
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:371236506"
exon 2653..2800
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2687
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150745965"
variation 2722
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369430850"
exon 2801..2896
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2852
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1053084"
exon 2897..3038
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 2910
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:375112180"
variation 2965
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:193111792"
variation 3007
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:16835513"
variation 3022
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144839903"
exon 3039..5021
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/inference="alignment:Splign:1.39.8"
variation 3073
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114499538"
STS 3091..3925
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/standard_name="ATP2C1_3811"
/db_xref="UniSTS:463236"
variation 3142
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372102536"
variation 3266
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="t"
/db_xref="dbSNP:34966299"
variation 3344..3345
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="a"
/db_xref="dbSNP:11434122"
variation 3397
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:78540252"
variation 3415
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:188602556"
variation 3511
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="t"
/db_xref="dbSNP:200037424"
variation 3520
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:11542183"
variation 3577
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373315400"
variation 3662..3666
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace=""
/replace="tgtaa"
/db_xref="dbSNP:141448272"
variation 3788
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372638968"
variation 3846
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:76326281"
variation 3855
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150024961"
variation 3893
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145351517"
variation 3924
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149202818"
variation 3994
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374738042"
variation 4050
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:181188000"
variation 4100
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="g"
/db_xref="dbSNP:186817851"
variation 4167
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116671177"
variation 4400
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="t"
/db_xref="dbSNP:190081792"
variation 4595
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142449501"
variation 4639
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147964547"
variation 4702
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="g"
/replace="t"
/db_xref="dbSNP:182142799"
variation 4714
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372789446"
variation 4721
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="c"
/db_xref="dbSNP:186240603"
STS 4738..4879
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/standard_name="SHGC-77341"
/db_xref="UniSTS:6081"
variation 4989
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:72628536"
polyA_signal 4995..5000
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
variation 5008
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141516276"
variation 5017
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
/replace="c"
/replace="t"
/db_xref="dbSNP:12330546"
polyA_site 5021
/gene="ATP2C1"
/gene_synonym="ATP2C1A; BCPM; HHD; hSPCA1; PMR1; SPCA1"
ORIGIN
caaagctgggttcgcggctggcccaggagtgcggggcgcgactgggcggccggcggcggggaggggcggagcgcaggagtcggaggcgggagcagaccagcacggcctcgcggagccggcccggcggaccgtgacgggtcccctcacctcctcttctctcccctccccgcccgccctctctccctcccttcctccctcccgctcgcttcttctcacgccgggagcaggctcccgcctcgcaccgctgccccgcgagcagctcctcttctcccgaggcgcgcggggcgcccccgcgagccccgcggctgagaccccgcagcctggaggagggctgtccggggctttggtgtggccgtggctgacactaaagactttgtagccatcaacccgagtgcagtttcgatggaaaatgaaggttgcacgttttcaaaaaatacctaatggtgaaaatgagacaatgattcctgtattgacatcaaaaaaagcaagtgaattaccagtcagtgaagttgcaagcattctccaagctgatcttcagaatggtctaaacaaatgtgaagttagtcataggcgagcctttcatggctggaatgagtttgatattagtgaagatgagccactgtggaagaagtatatttctcagtttaaaaatccccttattatgctgcttctggcttctgcagtcatcagtgttttaatgcatcagtttgatgatgccgtcagtatcactgtggcaatacttatcgttgttacagttgcctttgttcaggaatatcgttcagaaaaatctcttgaagaattgagtaaacttgtgccaccagaatgccattgtgtgcgtgaaggaaaattggagcatacacttgcccgagacttggttccaggtgatacagtttgcctttctgttggggatagagttcctgctgacttacgcttgtttgaggctgtggatctttccattgatgagtccagcttgacaggtgagacaacgccttgttctaaggtgacagctcctcagccagctgcaactaatggagatcttgcatcgagaagtaacattgcctttatgggaacactggtcagatgtggcaaagcaaagggtgttgtcattggaacaggagaaaattctgaatttggggaggtttttaaaatgatgcaagcagaagaggcaccaaaaacccctctgcagaagagcatggacctcttaggaaaacaactttccttttactcctttggtataataggaatcatcatgttggttggctggttactgggaaaagatatcctggaaatgtttactattagtgtaagtttggctgtagcagcaattcctgaaggtctccccattgtggtcacagtgacgctagctcttggtgttatgagaatggtgaagaaaagggccattgtgaaaaagctgcctattgttgaaactctgggctgctgtaatgtgatttgttcagataaaactggaacactgacgaagaatgaaatgactgttactcacatatttacttcagatggtctgcatgctgaggttactggagttggctataatcaatttggggaagtgattgttgatggtgatgttgttcatggattctataacccagctgttagcagaattgttgaggcgggctgtgtgtgcaatgatgctgtaattagaaacaatactctaatggggaagccaacagaaggggccttaattgctcttgcaatgaagatgggtcttgatggacttcaacaagactacatcagaaaagctgaatacccttttagctctgagcaaaagtggatggctgttaagtgtgtacaccgaacacagcaggacagaccagagatttgttttatgaaaggtgcttacgaacaagtaattaagtactgtactacataccagagcaaagggcagaccttgacacttactcagcagcagagagatgtgtaccaacaagagaaggcacgcatgggctcagcgggactcagagttcttgctttggcttctggtcctgaactgggacagctgacatttcttggcttggtgggaatcattgatccacctagaactggtgtgaaagaagctgttacaacactcattgcctcaggagtatcaataaaaatgattactggagattcacaggagactgcagttgcaatcgccagtcgtctgggattgtattccaaaacttcccagtcagtctcaggagaagaaatagatgcaatggatgttcagcagctttcacaaatagtaccaaaggttgcagtattttacagagctagcccaaggcacaagatgaaaattattaagtcgctacagaagaacggttcagttgtagccatgacaggagatggagtaaatgatgcagttgctctgaaggctgcagacattggagttgcgatgggccagactggtacagatgtttgcaaagaggcagcagacatgatcctagtggatgatgattttcaaaccataatgtctgcaatcgaagagggtaaagggatttataataacattaaaaatttcgttagattccagctgagcacgagtatagcagcattaactttaatctcattggctacattaatgaactttcctaatcctctcaatgccatgcagattttgtggatcaatattattatggatggacccccagctcagagccttggagtagaaccagtggataaagatgtcattcgtaaacctcctcgcaactggaaagacagcattttgactaaaaacttgatacttaaaatacttgtttcatcaataatcattgtttgtgggactttgtttgtcttctggcgtgagctacgagacaatgtgattacacctcgagacacaacaatgaccttcacatgctttgtgttttttgacatgttcaatgcactaagttccagatcccagaccaagtctgtgtttgagattggactctgcagtaatagaatgttttgctatgcagttcttggatccatcatgggacaattactagttatttactttcctccgcttcagaaggtttttcagactgagagcctaagcatactggatctgttgtttcttttgggtctcacctcatcagtgtgcatagtggcagaaattataaagaaggttgaaaggagcagggaaaagatccagaagcatgttagttcgacatcatcatcttttcttgaagtatgatgcatattgcattattttatttgcaaactaggaattgcagtctgaggatcatttagaagggcaagttcaagaggatatgaagatttgagaactttttaactattcattgactaaaaatgaacattaatgttaaagacttaagactttaacctgctggcagtcccaaatgaaattatgcaactttgatatcatattccttgatttaaattggcttttgtgattgagtgaaactttataaagcatatggtcagttatttaattaaaaaggcaaaacctgaaccaccttctgcacttaaagaagtctaacagtacaaatacactatctatcttagatagatatatttttttttatttttaaatattgtactatttatggtggtggggctttcttactaatacacaaataaatttaatcatttcaaaggcattctatttggtttagaagttgattcccaggagtgccatatttcagctactgtatttcctttttcttgtaatgtaagcagctcagataccatgtgctatcatttttgtatcaagttttttgcacaggatgtgaccactgtcagatcactgttcttttctttctttttgtgattgaaaagcctatactacaatttgaagtaaatttttgtttttcttagtaagtgtaaatggttgctttatttttattttaaaaaggtatgtctttggtttggcagaattcatgcagggctatcaagtggtgttctagggtaacagtgtccataattaacgcttagtcatagagtcaaaaacatttaagactgattgggttgaagtttataataaattatattaacatgtcttcctttttgaggtaaagatatatactttgtcaaatatcattttgtcatcctctaaatataaatccaaatacctcagctaagtaattctattttattatttttactgttatgtatgtttttaatcatatttcttaggaagtataggctactggacttagaataaaaagtccccaaacccaaacaaatggtttatgaaccagagtatatgtggaagattctttgctggtcttgctctgtgtgcatctgaagcttctttggcctagattttagcacaaacctgagtatatctcttctactttcatcatgtgttctgtaccttctttttgtttcattgggcatgctagggaaataggtggattttgtgtgtaatgccatcagtttttatgaaagcttgatgaggtataggtcatttgttttgagtatgtgggccagaaatttaaaattagaaatttgtttttctgttgagtatataaacaaaaattggtcccaattctaacaggtttaatccttcttgaagccaataagttttatcttttataatctgtcaggatgaaccactccttagcttttatccaatattaaactgcaagtgttagcactgaaatattgtcattgatagggaaaatatctattctttgagtcattgttactgaggcagttgagtgtaaggagctggctgcagtttattctacttaaccctttaaggctgaattgtcaaatgtacattgttccatgtcgttagatggaacatggaagccattgtctaatcaactctatcattagtgacttgatgtctcataccttaattttgtaatgatttttattctctgttacaaagacttgaaatacgtattaaatgcacgttaatgttttgctttgcattttaggttcagattatgacttgattgaaataaatgtgcctatacattcatttgctttgtactataaaaataaaaatgatttcttaagttaatgacatcccagtggggactattagcattaaaattatccatatggatgctgaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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_001186108 -> EC 3.6.3.8
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.