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ATP2A1 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)

Identity

Other namesATP2A
SERCA1
HGNC (Hugo) ATP2A1
LocusID (NCBI) 487
Atlas_Id 722
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 28891364 and ends at 28915830 bp from pter ( according to hg19-Feb_2009)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;3)(q25;q27) MBNL1/BCL6

External links

Nomenclature
HGNC (Hugo)ATP2A1   811
Cards
Entrez_Gene (NCBI)ATP2A1  487  ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
AliasesATP2A; SERCA1
GeneCards (Weizmann)ATP2A1
Ensembl hg19 (Hinxton)ENSG00000196296 [Gene_View]  chr16:28891364-28915830 [Contig_View]  ATP2A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000196296 [Gene_View]  chr16:28891364-28915830 [Contig_View]  ATP2A1 [Vega]
ICGC DataPortalENSG00000196296
TCGA cBioPortalATP2A1
AceView (NCBI)ATP2A1
Genatlas (Paris)ATP2A1
WikiGenes487
SOURCE (Princeton)ATP2A1
Genomic and cartography
GoldenPath hg19 (UCSC)ATP2A1  -     chr16:28891364-28915830 +  16p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP2A1  -     16p11.2   [Description]    (hg38-Dec_2013)
EnsemblATP2A1 - 16p11.2 [CytoView hg19]  ATP2A1 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIATP2A1 [Mapview hg19]  ATP2A1 [Mapview hg38]
OMIM108730   601003   
Gene and transcription
Genbank (Entrez)AK092691 AK128456 AK291314 AL706356 BC037354
RefSeq transcript (Entrez)NM_001286075 NM_004320 NM_173201
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_023327 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)ATP2A1
Cluster EST : UnigeneHs.657344 [ NCBI ]
CGAP (NCI)Hs.657344
Alternative Splicing GalleryENSG00000196296
Gene ExpressionATP2A1 [ NCBI-GEO ]   ATP2A1 [ EBI - ARRAY_EXPRESS ]   ATP2A1 [ SEEK ]   ATP2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP2A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)487
GTEX Portal (Tissue expression)ATP2A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14983 (Uniprot)
NextProtO14983  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14983
Splice isoforms : SwissVarO14983 (Swissvar)
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 ]   
PhosPhoSitePlusO14983
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cation-transptr_C    ATPase_P-typ_cation-transptr_N    ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom    ATPase_P-typ_transduc_dom_A    HAD-like_dom    P-type_ATPase_IIA    P_typ_ATPase    SERCA1   
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)    Hydrolase_3 (PF08282)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122    pfam08282   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
DMDM Disease mutations487
Blocks (Seattle)ATP2A1
SuperfamilyO14983
Human Protein AtlasENSG00000196296
Peptide AtlasO14983
HPRD00157
IPIIPI00024804   IPI00396118   IPI00646947   IPI00872163   
Protein Interaction databases
DIP (DOE-UCLA)O14983
IntAct (EBI)O14983
FunCoupENSG00000196296
BioGRIDATP2A1
STRING (EMBL)ATP2A1
ZODIACATP2A1
Ontologies - Pathways
QuickGOO14983
Ontology : AmiGOcalcium-transporting ATPase activity  calcium-transporting ATPase activity  calcium ion binding  calcium ion binding  protein binding  ATP binding  ATP binding  mitochondrion  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  integral component of plasma membrane  calcium ion transport  calcium ion transport  regulation of striated muscle contraction  metabolic process  apoptotic mitochondrial changes  membrane  integral component of membrane  sarcoplasmic reticulum  sarcoplasmic reticulum  platelet dense tubular network membrane  positive regulation of fast-twitch skeletal muscle fiber contraction  H zone  I band  positive regulation of endoplasmic reticulum calcium ion concentration  negative regulation of endoplasmic reticulum calcium ion concentration  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  calcium channel complex  response to endoplasmic reticulum stress  protein homodimerization activity  negative regulation of striated muscle contraction  perinuclear region of cytoplasm  positive regulation of mitochondrial calcium ion concentration  maintenance of mitochondrion location  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  calcium ion import  calcium ion transmembrane transport  calcium ion transmembrane transport  relaxation of skeletal muscle  regulation of cardiac conduction  
Ontology : EGO-EBIcalcium-transporting ATPase activity  calcium-transporting ATPase activity  calcium ion binding  calcium ion binding  protein binding  ATP binding  ATP binding  mitochondrion  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  integral component of plasma membrane  calcium ion transport  calcium ion transport  regulation of striated muscle contraction  metabolic process  apoptotic mitochondrial changes  membrane  integral component of membrane  sarcoplasmic reticulum  sarcoplasmic reticulum  platelet dense tubular network membrane  positive regulation of fast-twitch skeletal muscle fiber contraction  H zone  I band  positive regulation of endoplasmic reticulum calcium ion concentration  negative regulation of endoplasmic reticulum calcium ion concentration  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  calcium channel complex  response to endoplasmic reticulum stress  protein homodimerization activity  negative regulation of striated muscle contraction  perinuclear region of cytoplasm  positive regulation of mitochondrial calcium ion concentration  maintenance of mitochondrion location  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  calcium ion import  calcium ion transmembrane transport  calcium ion transmembrane transport  relaxation of skeletal muscle  regulation of cardiac conduction  
Pathways : KEGGCalcium signaling pathway    Pancreatic secretion    Alzheimer's disease   
NDEx Network
Atlas of Cancer Signalling NetworkATP2A1
Wikipedia pathwaysATP2A1
Orthology - Evolution
OrthoDB487
GeneTree (enSembl)ENSG00000196296
Phylogenetic Trees/Animal Genes : TreeFamATP2A1
Homologs : HomoloGeneATP2A1
Homology/Alignments : Family Browser (UCSC)ATP2A1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerATP2A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP2A1
dbVarATP2A1
ClinVarATP2A1
1000_GenomesATP2A1 
Exome Variant ServerATP2A1
ExAC (Exome Aggregation Consortium)ATP2A1 (select the gene name)
Genetic variants : HAPMAP487
Genomic Variants (DGV)ATP2A1 [DGVbeta]
Mutations
ICGC Data PortalATP2A1 
TCGA Data PortalATP2A1 
Broad Tumor PortalATP2A1
OASIS PortalATP2A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP2A1 
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 ATP2A1
DgiDB (Drug Gene Interaction Database)ATP2A1
DoCM (Curated mutations)ATP2A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP2A1 (select a term)
intoGenATP2A1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:28891364-28915830  ENSG00000196296
CONAN: Copy Number AnalysisATP2A1 
Mutations and Diseases : HGMDATP2A1
OMIM108730    601003   
MedgenATP2A1
Genetic Testing Registry ATP2A1
NextProtO14983 [Medical]
TSGene487
GENETestsATP2A1
Huge Navigator ATP2A1 [HugePedia]
snp3D : Map Gene to Disease487
BioCentury BCIQATP2A1
ClinGenATP2A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD487
Chemical/Pharm GKB GenePA25105
Clinical trialATP2A1
Miscellaneous
canSAR (ICR)ATP2A1 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP2A1
EVEXATP2A1
GoPubMedATP2A1
iHOPATP2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 18:59:15 CEST 2016

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