ENSG00000196296


Homo sapiens

Features
Gene ID: ENSG00000196296
  
Biological name :ATP2A1
  
Synonyms : ATP2A1 / ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 / O14983
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: p11.2
Gene start: 28878405
Gene end: 28904509
  
Corresponding Affymetrix probe sets: 205444_at (Human Genome U133 Plus 2.0 Array)   230693_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457798
Ensembl peptide - ENSP00000349595
Ensembl peptide - ENSP00000457148
Ensembl peptide - ENSP00000443101
Ensembl peptide - ENSP00000378879
Ensembl peptide - ENSP00000458035
Ensembl peptide - ENSP00000457357
Ensembl peptide - ENSP00000457793
NCBI entrez gene - 487     See in Manteia.
OMIM - 108730
RefSeq - NM_001286075
RefSeq - NM_173201
RefSeq - NM_004320
RefSeq Peptide - NP_004311
RefSeq Peptide - NP_001273004
RefSeq Peptide - NP_775293
swissprot - O14983
swissprot - H3BTF1
swissprot - H3BTW4
swissprot - H3BUT9
swissprot - H3BUU3
swissprot - H3BVB2
Ensembl - ENSG00000196296
  
Related genetic diseases (OMIM): 601003 - Brody myopathy, 601003
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Atp2a1ENSMUSG00000030730Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ATP2A2 / P16615 / ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2ENSG0000017443784
ATP2A3 / Q93084 / ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3ENSG0000007437076
ATP2C1 / P98194 / ATPase secretory pathway Ca2+ transporting 1ENSG0000001726032
ATP2C2 / O75185 / ATPase secretory pathway Ca2+ transporting 2ENSG0000006427031
ATP4A / P20648 / ATPase H+/K+ transporting alpha subunitENSG0000010567529
ATP1A4 / Q13733 / ATPase Na+/K+ transporting subunit alpha 4ENSG0000013268129
ATP1A2 / P50993 / ATPase Na+/K+ transporting subunit alpha 2ENSG0000001862528
ATP1A3 / P13637 / ATPase Na+/K+ transporting subunit alpha 3ENSG0000010540928
ATP1A1 / P05023 / ATPase Na+/K+ transporting subunit alpha 1ENSG0000016339928
AC010616.2ENSG0000028550528
ATP12A / P54707 / ATPase H+/K+ transporting non-gastric alpha2 subunitENSG0000007567327


Protein motifs (from Interpro)
Interpro ID Name
 IPR001757  P-type ATPase
 IPR004014  Cation-transporting P-type ATPase, N-terminal
 IPR005782  P-type ATPase, subfamily IIA, SERCA-type
 IPR006068  Cation-transporting P-type ATPase, C-terminal
 IPR008250  P-type ATPase, A domain superfamily
 IPR018303  P-type ATPase, phosphorylation site
 IPR023214  HAD superfamily
 IPR023298  P-type ATPase, transmembrane domain superfamily
 IPR023299  P-type ATPase, cytoplasmic domain N
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IMP
 biological_processGO:0008637 apoptotic mitochondrial changes IMP
 biological_processGO:0031448 positive regulation of fast-twitch skeletal muscle fiber contraction IDA
 biological_processGO:0032470 positive regulation of endoplasmic reticulum calcium ion concentration IMP
 biological_processGO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration IMP
 biological_processGO:0034220 ion transmembrane transport TAS
 biological_processGO:0034976 response to endoplasmic reticulum stress IMP
 biological_processGO:0051561 positive regulation of mitochondrial calcium ion concentration IMP
 biological_processGO:0051659 maintenance of mitochondrion location IMP
 biological_processGO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
 biological_processGO:0070509 calcium ion import IMP
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0090076 relaxation of skeletal muscle IDA
 biological_processGO:0099132 ATP hydrolysis coupled cation transmembrane transport IEA
 biological_processGO:1903779 regulation of cardiac conduction TAS
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum NAS
 cellular_componentGO:0031095 platelet dense tubular network membrane TAS
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane TAS
 cellular_componentGO:0034704 calcium channel complex IC
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005388 calcium-transporting ATPase activity TAS
 molecular_functionGO:0005509 calcium ion binding IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Pre-NOTCH Processing in Golgi
Reduction of cytosolic Ca++ levels
Ion homeostasis
Ion transport by P-type ATPases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0003394 Muscle cramps 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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