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ATP5A1 (ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle)

Identity

Alias_namesATP5AL2
ATPM
ATP synthase, H transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2
ATP synthase, H transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle
Alias_symbol (synonym)ATP5A
hATP1
OMR
ORM
Other aliasCOXPD22
HEL-S-123m
MC5DN4
MOM2
HGNC (Hugo) ATP5A1
LocusID (NCBI) 498
Atlas_Id 56311
Location 18q21.1  [Link to chromosome band 18q21]
Location_base_pair Starts at 43664110 and ends at 43678319 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP5A1 (18q21.1) / ATP5A1 (18q21.1)ATP5A1 (18q21.1) / BAIAP2L1 (7q21.3)ATP5A1 (18q21.1) / MYL12A (18p11.31)
ATP5A1 (18q21.1) / NEFL (8p21.2)ATP5A1 (18q21.1) / TSC22D1 (13q14.11)HUWE1 (Xp11.22) / ATP5A1 (18q21.1)
LOC100507412 (-) / ATP5A1 (18q21.1)PSMC5 (17q23.3) / ATP5A1 (18q21.1)STX3 (11q12.1) / ATP5A1 (18q21.1)

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

 


External links

Nomenclature
HGNC (Hugo)ATP5A1   823
Cards
Entrez_Gene (NCBI)ATP5A1  498  ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
AliasesATP5A; ATP5AL2; ATPM; COXPD22; 
HEL-S-123m; MC5DN4; MOM2; OMR; ORM; hATP1
GeneCards (Weizmann)ATP5A1
Ensembl hg19 (Hinxton)ENSG00000152234 [Gene_View]  chr18:43664110-43678319 [Contig_View]  ATP5A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000152234 [Gene_View]  chr18:43664110-43678319 [Contig_View]  ATP5A1 [Vega]
ICGC DataPortalENSG00000152234
TCGA cBioPortalATP5A1
AceView (NCBI)ATP5A1
Genatlas (Paris)ATP5A1
WikiGenes498
SOURCE (Princeton)ATP5A1
Genetics Home Reference (NIH)ATP5A1
Genomic and cartography
GoldenPath hg19 (UCSC)ATP5A1  -     chr18:43664110-43678319 -  18q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP5A1  -     18q21.1   [Description]    (hg38-Dec_2013)
EnsemblATP5A1 - 18q21.1 [CytoView hg19]  ATP5A1 - 18q21.1 [CytoView hg38]
Mapping of homologs : NCBIATP5A1 [Mapview hg19]  ATP5A1 [Mapview hg38]
OMIM164360   615228   616045   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001001935 NM_001001937 NM_001257334 NM_001257335 NM_004046
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP5A1
Cluster EST : UnigeneHs.298280 [ NCBI ]
CGAP (NCI)Hs.298280
Alternative Splicing GalleryENSG00000152234
Gene ExpressionATP5A1 [ NCBI-GEO ]   ATP5A1 [ EBI - ARRAY_EXPRESS ]   ATP5A1 [ SEEK ]   ATP5A1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP5A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)498
GTEX Portal (Tissue expression)ATP5A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP25705   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP25705  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP25705
Splice isoforms : SwissVarP25705
PhosPhoSitePlusP25705
Domaine pattern : Prosite (Expaxy)ATPASE_ALPHA_BETA (PS00152)   
Domains : Interpro (EBI)ATPase_a/bsu_AS    ATPase_asu-like    ATPase_F1-cplx_asu    ATPase_F1/V1/A1-cplx_a/bsu_C    ATPase_F1/V1/A1_a/bsu_nucl-bd    ATPase_F1_a/bsu_N    P-loop_NTPase   
Domain families : Pfam (Sanger)ATP-synt_ab (PF00006)    ATP-synt_ab_C (PF00306)    ATP-synt_ab_N (PF02874)   
Domain families : Pfam (NCBI)pfam00006    pfam00306    pfam02874   
Conserved Domain (NCBI)ATP5A1
DMDM Disease mutations498
Blocks (Seattle)ATP5A1
SuperfamilyP25705
Human Protein AtlasENSG00000152234
Peptide AtlasP25705
HPRD01258
IPIIPI00440493   IPI00471928   IPI00908963   IPI00977612   
Protein Interaction databases
DIP (DOE-UCLA)P25705
IntAct (EBI)P25705
FunCoupENSG00000152234
BioGRIDATP5A1
STRING (EMBL)ATP5A1
ZODIACATP5A1
Ontologies - Pathways
QuickGOP25705
Ontology : AmiGOnegative regulation of endothelial cell proliferation  protein binding  ATP binding  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial proton-transporting ATP synthase complex  mitochondrial matrix  plasma membrane  lipid metabolic process  ATP biosynthetic process  ATP biosynthetic process  ATP biosynthetic process  COP9 signalosome  embryo development  ATP hydrolysis coupled proton transport  membrane  ATPase activity  transmembrane transporter activity  extracellular matrix  MHC class I protein binding  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  myelin sheath  poly(A) RNA binding  proton-transporting ATP synthase complex, catalytic core F(1)  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATPase activity, rotational mechanism  extracellular exosome  
Ontology : EGO-EBInegative regulation of endothelial cell proliferation  protein binding  ATP binding  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial proton-transporting ATP synthase complex  mitochondrial matrix  plasma membrane  lipid metabolic process  ATP biosynthetic process  ATP biosynthetic process  ATP biosynthetic process  COP9 signalosome  embryo development  ATP hydrolysis coupled proton transport  membrane  ATPase activity  transmembrane transporter activity  extracellular matrix  MHC class I protein binding  mitochondrial ATP synthesis coupled proton transport  mitochondrial ATP synthesis coupled proton transport  myelin sheath  poly(A) RNA binding  proton-transporting ATP synthase complex, catalytic core F(1)  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATPase activity, rotational mechanism  extracellular exosome  
Pathways : BIOCARTAElectron Transport Reaction in Mitochondria [Genes]   
Pathways : KEGGOxidative phosphorylation    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkATP5A1
Atlas of Cancer Signalling NetworkATP5A1
Wikipedia pathwaysATP5A1
Orthology - Evolution
OrthoDB498
GeneTree (enSembl)ENSG00000152234
Phylogenetic Trees/Animal Genes : TreeFamATP5A1
HOVERGENP25705
HOGENOMP25705
Homologs : HomoloGeneATP5A1
Homology/Alignments : Family Browser (UCSC)ATP5A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP5A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP5A1
dbVarATP5A1
ClinVarATP5A1
1000_GenomesATP5A1 
Exome Variant ServerATP5A1
ExAC (Exome Aggregation Consortium)ATP5A1 (select the gene name)
Genetic variants : HAPMAP498
Genomic Variants (DGV)ATP5A1 [DGVbeta]
DECIPHER (Syndromes)18:43664110-43678319  ENSG00000152234
CONAN: Copy Number AnalysisATP5A1 
Mutations
ICGC Data PortalATP5A1 
TCGA Data PortalATP5A1 
Broad Tumor PortalATP5A1
OASIS PortalATP5A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP5A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP5A1
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ATP5A1
DgiDB (Drug Gene Interaction Database)ATP5A1
DoCM (Curated mutations)ATP5A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP5A1 (select a term)
intoGenATP5A1
Cancer3DATP5A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164360    615228    616045   
Orphanet19800   
MedgenATP5A1
Genetic Testing Registry ATP5A1
NextProtP25705 [Medical]
TSGene498
GENETestsATP5A1
Huge Navigator ATP5A1 [HugePedia]
snp3D : Map Gene to Disease498
BioCentury BCIQATP5A1
ClinGenATP5A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD498
Chemical/Pharm GKB GenePA25115
Clinical trialATP5A1
Miscellaneous
canSAR (ICR)ATP5A1 (select the gene name)
Probes
Litterature
PubMed142 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP5A1
EVEXATP5A1
GoPubMedATP5A1
iHOPATP5A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:56:58 CET 2017

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