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ATP2C1 (ATPase secretory pathway Ca2+ transporting 1)

Identity

Alias (NCBI)ATP2C1A
BCPM
HHD
PMR1
SPCA1
hSPCA1
HGNC (Hugo) ATP2C1
HGNC Alias symbKIAA1347
ATP2C1A
PMR1
SPCA1
HGNC Alias namesecretory pathway Ca2+/Mn2+ ATPase 1
 calcium-transporting ATPase type 2C member 1
HGNC Previous nameBCPM
HGNC Previous namebenign chronic pemphigus (Hailey-Hailey disease)
 ATPase, Ca++ transporting, type 2C, member 1
LocusID (NCBI) 27032
Atlas_Id 57232
Location 3q22.1  [Link to chromosome band 3q22]
Location_base_pair Starts at 130894550 and ends at 131003202 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;3)(q37;q22) PSMD1/ATP2C1
NEK11/ATP2C1 (3q22)

External links

Nomenclature
HGNC (Hugo)ATP2C1   13211
Cards
Entrez_Gene (NCBI)ATP2C1    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]  ENSG00000017260 [Sequence]  chr3:130894550-131003202 [Contig_View]  ATP2C1 [Vega]
ICGC DataPortalENSG00000017260
TCGA cBioPortalATP2C1
AceView (NCBI)ATP2C1
Genatlas (Paris)ATP2C1
SOURCE (Princeton)ATP2C1
Genetics Home Reference (NIH)ATP2C1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP2C1  -     chr3:130894550-131003202 +  3q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP2C1  -     3q22.1   [Description]    (hg19-Feb_2009)
GoldenPathATP2C1 - 3q22.1 [CytoView hg19]  ATP2C1 - 3q22.1 [CytoView hg38]
ImmunoBaseENSG00000017260
genome Data Viewer NCBIATP2C1 [Mapview hg19]  
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_001378511 NM_001378512 NM_001378513 NM_001378514 NM_001378687 NM_014382
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP2C1
Alternative Splicing GalleryENSG00000017260
Gene ExpressionATP2C1 [ NCBI-GEO ]   ATP2C1 [ EBI - ARRAY_EXPRESS ]   ATP2C1 [ SEEK ]   ATP2C1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP2C1 [ Firebrowse - Broad ]
GenevisibleExpression of ATP2C1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27032
GTEX Portal (Tissue expression)ATP2C1
Human Protein AtlasENSG00000017260-ATP2C1 [pathology]   [cell]   [tissue]
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 : Enzyme7.2.2.10 [ Enzyme-Expasy ]   7.2.2.107.2.2.10 [ IntEnz-EBI ]   7.2.2.10 [ BRENDA ]   7.2.2.10 [ KEGG ]   [ MEROPS ]
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_cyto_dom_N    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom_sf    ATPase_P-typ_transduc_dom_A_sf    HAD-like_sf    HAD_sf    P-type_ATPase_IIA_PMR1    P_typ_ATPase   
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)   
Domain families : Pfam (NCBI)pfam00689    pfam00690   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
Conserved Domain (NCBI)ATP2C1
Blocks (Seattle)ATP2C1
SuperfamilyP98194
Human Protein Atlas [tissue]ENSG00000017260-ATP2C1 [tissue]
Peptide AtlasP98194
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
BioGRIDATP2C1
STRING (EMBL)ATP2C1
ZODIACATP2C1
Ontologies - Pathways
QuickGOP98194
Ontology : AmiGOGolgi membrane  Golgi membrane  Golgi membrane  calcium-transporting ATPase activity  calcium-transporting ATPase activity  ATP binding  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  plasma membrane  calcium ion transport  calcium ion transport  manganese ion transport  cellular calcium ion homeostasis  cellular calcium ion homeostasis  cellular calcium ion homeostasis  epidermis development  proton-exporting ATPase activity, phosphorylative mechanism  manganese-transporting ATPase activity  membrane  integral component of membrane  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  ATPase activity  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  manganese ion transmembrane transport  proton transmembrane transport  
Ontology : EGO-EBIGolgi membrane  Golgi membrane  Golgi membrane  calcium-transporting ATPase activity  calcium-transporting ATPase activity  ATP binding  endoplasmic reticulum  Golgi apparatus  trans-Golgi network  plasma membrane  calcium ion transport  calcium ion transport  manganese ion transport  cellular calcium ion homeostasis  cellular calcium ion homeostasis  cellular calcium ion homeostasis  epidermis development  proton-exporting ATPase activity, phosphorylative mechanism  manganese-transporting ATPase activity  membrane  integral component of membrane  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  ATPase activity  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  manganese ion transmembrane transport  proton transmembrane transport  
NDEx NetworkATP2C1
Atlas of Cancer Signalling NetworkATP2C1
Wikipedia pathwaysATP2C1
Orthology - Evolution
OrthoDB27032
GeneTree (enSembl)ENSG00000017260
Phylogenetic Trees/Animal Genes : TreeFamATP2C1
HOGENOMP98194
Homologs : HomoloGeneATP2C1
Homology/Alignments : Family Browser (UCSC)ATP2C1
Gene fusions - Rearrangements
Fusion : QuiverATP2C1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP2C1 [hg38]
dbVarATP2C1
ClinVarATP2C1
MonarchATP2C1
1000_GenomesATP2C1 
Exome Variant ServerATP2C1
GNOMAD BrowserENSG00000017260
Varsome BrowserATP2C1
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]  
Somatic Mutations in Cancer : COSMIC3DATP2C1
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
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM169600    604384   
Orphanet
DisGeNETATP2C1
MedgenATP2C1
Genetic Testing Registry ATP2C1
NextProtP98194 [Medical]
GENETestsATP2C1
Target ValidationATP2C1
Huge Navigator ATP2C1 [HugePedia]
ClinGenATP2C1
Clinical trials, drugs, therapy
MyCancerGenomeATP2C1
Protein Interactions : CTD
Pharm GKB GenePA25111
PharosP98194
Clinical trialATP2C1
Miscellaneous
canSAR (ICR)ATP2C1 (select the gene name)
HarmonizomeATP2C1
DataMed IndexATP2C1
Probes
Litterature
PubMed110 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATP2C1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:06:36 CET 2021
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