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ATP2C1 (ATPase secretory pathway Ca2+ transporting 1)

Identity

Alias_namesBCPM
benign chronic pemphigus (Hailey-Hailey disease)
ATPase, Ca++ transporting, type 2C, member 1
Alias_symbol (synonym)KIAA1347
ATP2C1A
PMR1
SPCA1
Other aliasHHD
hSPCA1
HGNC (Hugo) ATP2C1
LocusID (NCBI) 27032
Atlas_Id 60620
Location 3q22.1  [Link to chromosome band 3q22]
Location_base_pair Starts at 130894015 and ends at 131016711 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP2C1 (3q22.1) / ATP2C1 (3q22.1)ATP2C1 (3q22.1) / PARVA (11p15.3)ATP2C1 (3q22.1) / PDGFRA (4q12)
ATP2C1 (3q22.1) / SYT17 (16p12.3)CLK4 (5q35.3) / ATP2C1 (3q22.1)MTMR2 (11q21) / ATP2C1 (3q22.1)
NEK11 (3q22.1) / ATP2C1 (3q22.1)PSMD1 (2q37.1) / ATP2C1 (3q22.1)TJP2 (9q21.11) / ATP2C1 (3q22.1)
NEK11 ATP2C1PSMD1 ATP2C1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ATP2C1   13211
Cards
Entrez_Gene (NCBI)ATP2C1  27032  ATPase secretory pathway Ca2+ transporting 1
AliasesATP2C1A; BCPM; HHD; PMR1; 
SPCA1; hSPCA1
GeneCards (Weizmann)ATP2C1
Ensembl hg19 (Hinxton)ENSG00000017260 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000017260 [Gene_View]  chr3:130894015-131016711 [Contig_View]  ATP2C1 [Vega]
ICGC DataPortalENSG00000017260
TCGA cBioPortalATP2C1
AceView (NCBI)ATP2C1
Genatlas (Paris)ATP2C1
WikiGenes27032
SOURCE (Princeton)ATP2C1
Genetics Home Reference (NIH)ATP2C1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP2C1  -     chr3:130894015-131016711 +  3q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP2C1  -     3q22.1   [Description]    (hg19-Feb_2009)
EnsemblATP2C1 - 3q22.1 [CytoView hg19]  ATP2C1 - 3q22.1 [CytoView hg38]
Mapping of homologs : NCBIATP2C1 [Mapview hg19]  ATP2C1 [Mapview hg38]
OMIM169600   604384   
Gene and transcription
Genbank (Entrez)AB037768 AB209265 AF181120 AF181121 AF189723
RefSeq transcript (Entrez)NM_001001485 NM_001001486 NM_001001487 NM_001199179 NM_001199180 NM_001199181 NM_001199182 NM_001199183 NM_001199184 NM_001199185 NM_014382
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP2C1
Cluster EST : UnigeneHs.584884 [ NCBI ]
CGAP (NCI)Hs.584884
Alternative Splicing GalleryENSG00000017260
Gene ExpressionATP2C1 [ NCBI-GEO ]   ATP2C1 [ EBI - ARRAY_EXPRESS ]   ATP2C1 [ SEEK ]   ATP2C1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP2C1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27032
GTEX Portal (Tissue expression)ATP2C1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP98194   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP98194  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP98194
Splice isoforms : SwissVarP98194
Catalytic activity : Enzyme3.6.3.8 [ Enzyme-Expasy ]   3.6.3.83.6.3.8 [ IntEnz-EBI ]   3.6.3.8 [ BRENDA ]   3.6.3.8 [ KEGG ]   
PhosPhoSitePlusP98194
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATP2C1    ATPase_P-typ_cation-transptr_C    ATPase_P-typ_cation-transptr_N    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom    ATPase_P-typ_transduc_dom_A    HAD-like_dom    P-type_ATPase_IIA_PMR1    P_typ_ATPase   
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
Conserved Domain (NCBI)ATP2C1
DMDM Disease mutations27032
Blocks (Seattle)ATP2C1
SuperfamilyP98194
Human Protein AtlasENSG00000017260
Peptide AtlasP98194
HPRD05089
IPIIPI00419957   IPI00220473   IPI00413116   IPI00607568   IPI00607812   IPI00745171   IPI00921961   IPI01014504   IPI00975874   IPI00967664   IPI00965256   IPI00968299   IPI00966979   IPI00967363   IPI00968272   IPI00963940   IPI00797988   IPI00966718   
Protein Interaction databases
DIP (DOE-UCLA)P98194
IntAct (EBI)P98194
FunCoupENSG00000017260
BioGRIDATP2C1
STRING (EMBL)ATP2C1
ZODIACATP2C1
Ontologies - Pathways
QuickGOP98194
Ontology : AmiGOGolgi membrane  Golgi membrane  signal transducer activity  calcium-transporting ATPase activity  calcium-transporting ATPase activity  ATP binding  Golgi apparatus  trans-Golgi network  calcium ion transport  calcium ion transport  cellular calcium ion homeostasis  cellular calcium ion homeostasis  signal transduction  epidermis development  membrane  integral component of membrane  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  actin cytoskeleton reorganization  Golgi calcium ion homeostasis  Golgi calcium ion transport  ion transmembrane transport  positive regulation of I-kappaB kinase/NF-kappaB signaling  metal ion binding  calcium ion transmembrane transport  ATP hydrolysis coupled cation transmembrane transport  
Ontology : EGO-EBIGolgi membrane  Golgi membrane  signal transducer activity  calcium-transporting ATPase activity  calcium-transporting ATPase activity  ATP binding  Golgi apparatus  trans-Golgi network  calcium ion transport  calcium ion transport  cellular calcium ion homeostasis  cellular calcium ion homeostasis  signal transduction  epidermis development  membrane  integral component of membrane  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  actin cytoskeleton reorganization  Golgi calcium ion homeostasis  Golgi calcium ion transport  ion transmembrane transport  positive regulation of I-kappaB kinase/NF-kappaB signaling  metal ion binding  calcium ion transmembrane transport  ATP hydrolysis coupled cation transmembrane transport  
NDEx NetworkATP2C1
Atlas of Cancer Signalling NetworkATP2C1
Wikipedia pathwaysATP2C1
Orthology - Evolution
OrthoDB27032
GeneTree (enSembl)ENSG00000017260
Phylogenetic Trees/Animal Genes : TreeFamATP2C1
HOVERGENP98194
HOGENOMP98194
Homologs : HomoloGeneATP2C1
Homology/Alignments : Family Browser (UCSC)ATP2C1
Gene fusions - Rearrangements
Fusion: TCGANEK11 ATP2C1
Fusion: TCGAPSMD1 ATP2C1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP2C1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP2C1
dbVarATP2C1
ClinVarATP2C1
1000_GenomesATP2C1 
Exome Variant ServerATP2C1
ExAC (Exome Aggregation Consortium)ATP2C1 (select the gene name)
Genetic variants : HAPMAP27032
Genomic Variants (DGV)ATP2C1 [DGVbeta]
DECIPHERATP2C1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP2C1 
Mutations
ICGC Data PortalATP2C1 
TCGA Data PortalATP2C1 
Broad Tumor PortalATP2C1
OASIS PortalATP2C1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP2C1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP2C1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch ATP2C1
DgiDB (Drug Gene Interaction Database)ATP2C1
DoCM (Curated mutations)ATP2C1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP2C1 (select a term)
intoGenATP2C1
Cancer3DATP2C1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM169600    604384   
Orphanet3619   
MedgenATP2C1
Genetic Testing Registry ATP2C1
NextProtP98194 [Medical]
TSGene27032
GENETestsATP2C1
Target ValidationATP2C1
Huge Navigator ATP2C1 [HugePedia]
snp3D : Map Gene to Disease27032
BioCentury BCIQATP2C1
ClinGenATP2C1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27032
Chemical/Pharm GKB GenePA25111
Clinical trialATP2C1
Miscellaneous
canSAR (ICR)ATP2C1 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP2C1
EVEXATP2C1
GoPubMedATP2C1
iHOPATP2C1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:02:00 CEST 2017

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