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ATP5F1A (ATP synthase F1 subunit alpha)

Identity

Other aliasATP5A
ATP5A1
ATP5AL2
ATPM
COXPD22
HEL-S-123m
MC5DN4
MOM2
OMR
ORM
hATP1
HGNC (Hugo) ATP5F1A
LocusID (NCBI) 498
Atlas_Id 57314
Location 18q21.1  [Link to chromosome band 18q21]
Location_base_pair Starts at 46084144 and ends at 46098353 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)
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


External links

Nomenclature
HGNC (Hugo)ATP5F1A   823
Cards
Entrez_Gene (NCBI)ATP5F1A  498  ATP synthase F1 subunit alpha
AliasesATP5A; ATP5A1; ATP5AL2; ATPM; 
COXPD22; HEL-S-123m; MC5DN4; MOM2; OMR; ORM; hATP1
GeneCards (Weizmann)ATP5F1A
Ensembl hg19 (Hinxton)ENSG00000152234 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000152234 [Gene_View]  ENSG00000152234 [Sequence]  chr18:46084144-46098353 [Contig_View]  ATP5F1A [Vega]
ICGC DataPortalENSG00000152234
TCGA cBioPortalATP5F1A
AceView (NCBI)ATP5F1A
Genatlas (Paris)ATP5F1A
WikiGenes498
SOURCE (Princeton)ATP5F1A
Genetics Home Reference (NIH)ATP5F1A
Genomic and cartography
GoldenPath hg38 (UCSC)ATP5F1A  -     chr18:46084144-46098353 -  18q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP5F1A  -     18q21.1   [Description]    (hg19-Feb_2009)
EnsemblATP5F1A - 18q21.1 [CytoView hg19]  ATP5F1A - 18q21.1 [CytoView hg38]
Mapping of homologs : NCBIATP5F1A [Mapview hg19]  ATP5F1A [Mapview hg38]
OMIM164360   615228   616045   
Gene and transcription
Genbank (Entrez)AK092735 AK098765 AK129739 AK129804 AK129900
RefSeq transcript (Entrez)NM_001001935 NM_001001937 NM_001257334 NM_001257335 NM_004046
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP5F1A
Cluster EST : UnigeneHs.298280 [ NCBI ]
CGAP (NCI)Hs.298280
Alternative Splicing GalleryENSG00000152234
Gene ExpressionATP5F1A [ NCBI-GEO ]   ATP5F1A [ EBI - ARRAY_EXPRESS ]   ATP5F1A [ SEEK ]   ATP5F1A [ MEM ]
Gene Expression Viewer (FireBrowse)ATP5F1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)498
GTEX Portal (Tissue expression)ATP5F1A
Human Protein AtlasENSG00000152234-ATP5F1A [pathology]   [cell]   [tissue]
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)ATP_synth_asu-like_sf    ATP_synth_asu_C    ATP_synth_asu_C_sf    ATP_synth_F1_a    ATP_synth_F1_asu    ATPase_a/bsu_AS    ATPase_F1/V1/A1_a/bsu_N    ATPase_F1/V1/A1_a/bsu_N_sf    ATPase_F1/V1/A1_a/bsu_nucl-bd    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)ATP5F1A
DMDM Disease mutations498
Blocks (Seattle)ATP5F1A
SuperfamilyP25705
Human Protein Atlas [tissue]ENSG00000152234-ATP5F1A [tissue]
Peptide AtlasP25705
IPIIPI00440493   IPI00471928   IPI00908963   IPI00977612   
Protein Interaction databases
DIP (DOE-UCLA)P25705
IntAct (EBI)P25705
FunCoupENSG00000152234
BioGRIDATP5F1A
STRING (EMBL)ATP5F1A
ZODIACATP5F1A
Ontologies - Pathways
QuickGOP25705
Ontology : AmiGOmitochondrial proton-transporting ATP synthase complex, catalytic core F(1)  negative regulation of endothelial cell proliferation  RNA binding  protein binding  ATP 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  ATP biosynthetic process  ATP biosynthetic process  response to oxidative stress  COP9 signalosome  ATP synthesis coupled proton transport  membrane  membrane  ATPase activity  ATPase activity  transmembrane transporter activity  electron transport chain  MHC class I protein binding  cristae formation  mitochondrial ATP synthesis coupled proton transport  myelin sheath  ADP binding  angiostatin binding  positive regulation of blood vessel endothelial cell migration  proton-transporting ATP synthase complex  ATP metabolic process  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATP synthase activity, rotational mechanism  extracellular exosome  ATP hydrolysis coupled cation transmembrane transport  
Ontology : EGO-EBImitochondrial proton-transporting ATP synthase complex, catalytic core F(1)  negative regulation of endothelial cell proliferation  RNA binding  protein binding  ATP 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  ATP biosynthetic process  ATP biosynthetic process  response to oxidative stress  COP9 signalosome  ATP synthesis coupled proton transport  membrane  membrane  ATPase activity  ATPase activity  transmembrane transporter activity  electron transport chain  MHC class I protein binding  cristae formation  mitochondrial ATP synthesis coupled proton transport  myelin sheath  ADP binding  angiostatin binding  positive regulation of blood vessel endothelial cell migration  proton-transporting ATP synthase complex  ATP metabolic process  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATP synthase activity, rotational mechanism  extracellular exosome  ATP hydrolysis coupled cation transmembrane transport  
NDEx NetworkATP5F1A
Atlas of Cancer Signalling NetworkATP5F1A
Wikipedia pathwaysATP5F1A
Orthology - Evolution
OrthoDB498
GeneTree (enSembl)ENSG00000152234
Phylogenetic Trees/Animal Genes : TreeFamATP5F1A
HOVERGENP25705
HOGENOMP25705
Homologs : HomoloGeneATP5F1A
Homology/Alignments : Family Browser (UCSC)ATP5F1A
Gene fusions - Rearrangements
Fusion : QuiverATP5F1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP5F1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP5F1A
dbVarATP5F1A
ClinVarATP5F1A
1000_GenomesATP5F1A 
Exome Variant ServerATP5F1A
ExAC (Exome Aggregation Consortium)ENSG00000152234
GNOMAD BrowserENSG00000152234
Varsome BrowserATP5F1A
Genetic variants : HAPMAP498
Genomic Variants (DGV)ATP5F1A [DGVbeta]
DECIPHERATP5F1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP5F1A 
Mutations
ICGC Data PortalATP5F1A 
TCGA Data PortalATP5F1A 
Broad Tumor PortalATP5F1A
OASIS PortalATP5F1A [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDATP5F1A
BioMutasearch ATP5F1A
DgiDB (Drug Gene Interaction Database)ATP5F1A
DoCM (Curated mutations)ATP5F1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP5F1A (select a term)
intoGenATP5F1A
Cancer3DATP5F1A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164360    615228    616045   
Orphanet
DisGeNETATP5F1A
MedgenATP5F1A
Genetic Testing Registry ATP5F1A
NextProtP25705 [Medical]
TSGene498
GENETestsATP5F1A
Target ValidationATP5F1A
Huge Navigator ATP5F1A [HugePedia]
snp3D : Map Gene to Disease498
BioCentury BCIQATP5F1A
ClinGenATP5F1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD498
Chemical/Pharm GKB GenePA25115
Clinical trialATP5F1A
Miscellaneous
canSAR (ICR)ATP5F1A (select the gene name)
Probes
Litterature
PubMed168 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP5F1A
EVEXATP5F1A
GoPubMedATP5F1A
iHOPATP5F1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 10:53:02 CET 2018

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