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ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1)

Identity

Other namesATP2A
SERCA1
HGNC (Hugo) ATP2A1
LocusID (NCBI) 487
Location 16p11.2
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)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)ATP2A1   811
Cards
Entrez_Gene (NCBI)ATP2A1  487  ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
GeneCards (Weizmann)ATP2A1
Ensembl (Hinxton)ENSG00000196296 [Gene_View]  chr16:28891364-28915830 [Contig_View]  ATP2A1 [Vega]
ICGC DataPortalENSG00000196296
AceView (NCBI)ATP2A1
Genatlas (Paris)ATP2A1
WikiGenes487
SOURCE (Princeton)NM_001286075 NM_004320 NM_173201
Genomic and cartography
GoldenPath (UCSC)ATP2A1  -  16p11.2   chr16:28891364-28915830 +  16p11.2   [Description]    (hg19-Feb_2009)
EnsemblATP2A1 - 16p11.2 [CytoView]
Mapping of homologs : NCBIATP2A1 [Mapview]
OMIM108730   601003   
Gene and transcription
Genbank (Entrez)AK092691 AK128456 AK291314 AL706356 BC037354
RefSeq transcript (Entrez)NM_001286075 NM_004320 NM_173201
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_023327 NT_187260 NW_001838231 NW_004929400
Consensus coding sequences : CCDS (NCBI)ATP2A1
Cluster EST : UnigeneHs.657344 [ NCBI ]
CGAP (NCI)Hs.657344
Alternative Splicing : Fast-db (Paris)GSHG0011078
Alternative Splicing GalleryENSG00000196296
Gene ExpressionATP2A1 [ NCBI-GEO ]     ATP2A1 [ SEEK ]   ATP2A1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14983 (Uniprot)
NextProtO14983  [Medical]
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 ]   
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_Ca-transp_IIA    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    Cation_transp_P_typ_ATPase    HAD-like_dom   
Related proteins : CluSTrO14983
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)    Hydrolase (PF00702)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122    pfam00702   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
DMDM Disease mutations487
Blocks (Seattle)O14983
Human Protein AtlasENSG00000196296
Peptide AtlasO14983
HPRD00157
IPIIPI00024804   IPI00396118   IPI00646947   IPI00872163   
Protein Interaction databases
DIP (DOE-UCLA)O14983
IntAct (EBI)O14983
FunCoupENSG00000196296
BioGRIDATP2A1
InParanoidO14983
Interologous Interaction database O14983
IntegromeDBATP2A1
STRING (EMBL)ATP2A1
Ontologies - Pathways
Ontology : AmiGOcalcium-transporting ATPase activity  calcium ion binding  calcium ion binding  protein binding  ATP binding  ATP binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  ATP catabolic process  calcium ion transport  calcium ion transport  regulation of striated muscle contraction  blood coagulation  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  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  transmembrane transport  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  calcium ion import  calcium ion transmembrane transport  relaxation of skeletal muscle  
Ontology : EGO-EBIcalcium-transporting ATPase activity  calcium ion binding  calcium ion binding  protein binding  ATP binding  ATP binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  ATP catabolic process  calcium ion transport  calcium ion transport  regulation of striated muscle contraction  blood coagulation  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  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  transmembrane transport  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  calcium ion import  calcium ion transmembrane transport  relaxation of skeletal muscle  
Pathways : KEGGCalcium signaling pathway    Pancreatic secretion    Alzheimer's disease   
Protein Interaction DatabaseATP2A1
Wikipedia pathwaysATP2A1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ATP2A1
SNP (GeneSNP Utah)ATP2A1
SNP : HGBaseATP2A1
Genetic variants : HAPMAPATP2A1
1000_GenomesATP2A1 
ICGC programENSG00000196296 
CONAN: Copy Number AnalysisATP2A1 
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
Mutations and Diseases : HGMDATP2A1
OMIM108730    601003   
MedgenATP2A1
GENETestsATP2A1
Disease Genetic AssociationATP2A1
Huge Navigator ATP2A1 [HugePedia]  ATP2A1 [HugeCancerGEM]
Genomic VariantsATP2A1  ATP2A1 [DGVbeta]
Exome VariantATP2A1
dbVarATP2A1
ClinVarATP2A1
snp3D : Map Gene to Disease487
General knowledge
Homologs : HomoloGeneATP2A1
Homology/Alignments : Family Browser (UCSC)ATP2A1
Phylogenetic Trees/Animal Genes : TreeFamATP2A1
Chemical/Protein Interactions : CTD487
Chemical/Pharm GKB GenePA25105
Clinical trialATP2A1
Cancer Resource (Charite)ENSG00000196296
Other databases
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
CoreMineATP2A1
iHOPATP2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:33:40 CEST 2014

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