Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	498
Gene name	ATP synthase F1 subunit alpha
Gene symbol	ATP5F1A
Synonyms (NCBI Gene)	ATP5AATP5A1ATP5AL2ATPMCOXPD22HEL-S-123mMC5DN4MC5DN4AMC5DN4BMOM2OMRORMhATP1
Chromosome	18
Chromosome location	18q21.1
Summary	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776960	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777788	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs1131691396	C>G	Likely-pathogenic	Splice donor variant
rs1555695396	A>G	Pathogenic	Intron variant, splice donor variant

Show/Hide all (1)

Transcription factor	Regulation	Reference
USF2	Activation	10434034

Show/Hide all (61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	10077593
GO:0002020	Function	Protease binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	10077593, 11410595, 11741979, 15161933, 19285951, 19343720, 19688755, 20618440, 21106936, 22309213, 27499296, 28514442, 30021884, 32814053, 33961781
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IC	12110673
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	1830491
GO:0005743	Component	Mitochondrial inner membrane	IDA	19016746
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	26297831
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA	10077593
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	ISS
GO:0006754	Process	ATP biosynthetic process	IEA
GO:0006754	Process	ATP biosynthetic process	IMP	21106936
GO:0006754	Process	ATP biosynthetic process	NAS	1830491
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0009986	Component	Cell surface	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	IBA
GO:0015986	Process	Proton motive force-driven ATP synthesis	IDA	37244256
GO:0015986	Process	Proton motive force-driven ATP synthesis	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	NAS	26297831
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	21106936
GO:0016020	Component	Membrane	IEA
GO:0016469	Component	Proton-transporting two-sector ATPase complex	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0032559	Function	Adenyl ribonucleotide binding	IEA
GO:0042288	Function	MHC class I protein binding	IDA	17643490
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	IDA	12110673
GO:0043531	Function	ADP binding	IBA
GO:0043531	Function	ADP binding	IEA
GO:0043532	Function	Angiostatin binding	IPI	21106936
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IGI	21106936
GO:0045121	Component	Membrane raft	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	IBA
GO:0045259	Component	Proton-transporting ATP synthase complex	IDA	12110673, 21106936, 37244256
GO:0045259	Component	Proton-transporting ATP synthase complex	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	NAS	26297831
GO:0045471	Process	Response to ethanol	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IBA
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IDA	12110673
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IEA
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IMP	21106936
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0071732	Process	Cellular response to nitric oxide	IEA
GO:1902495	Component	Transmembrane transporter complex	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
164360	823	ENSG00000152234

P25705

Protein name

ATP synthase F(1) complex subunit alpha, mitochondrial (ATP synthase F1 subunit alpha)

Protein function

Subunit alpha, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the

PDB

8H9E , 8H9I , 8H9L , 8H9P , 8H9S , 8H9T , 8H9U , 8H9V , 8KI3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02874	ATP-synt_ab_N	67 → 135	ATP synthase alpha/beta family, beta-barrel domain	Domain
PF00006	ATP-synt_ab	192 → 415	ATP synthase alpha/beta family, nucleotide-binding domain	Domain
PF00306	ATP-synt_ab_C	422 → 547	ATP synthase alpha/beta chain, C terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord. {ECO:0000269|PubMed:8428659}.

Sequence

MLSVRVAAAVVRALPRRAGLVSRNALGSSFIAARNFHASNTHLQKTGTAEMSSILEERIL
GADTSVDLEETGRVLSIGDGIARVHGLRNVQAEEMVEFSSGLKGMSLNLEPDNVGVVVFG
NDKLIKEGDIVKRTGAIVDVPVGEELLGRVVDALGNAIDGKGPIGSKTRRRVGLKAPGII
PRISVREPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTSIAIDTIINQKRFNDGSDEKK
KLYCIYVAIGQKRSTVAQLVKRLTDADAMKYTIVVSATASDAAPLQYLAPYSGCSMGEYF
RDNGKHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDVFYLHSRLLERAAKMNDAFG
GGSLTALPVIETQAGDVSAYIPTNVISITDGQIFLETELFYKGIRPAINVGLSVSRVGSA
AQTRAMKQVAGTMKLELAQYREVAAFAQFGSDLDAATQQLLSRGVRLTELLKQGQYSPMA
IEEQVAVIYAGVRGYLDKLEPSKITKFENAFLSHVVSQHQALLGTIRADGKISEQSDAKL
KEIVTNFLAGFEA

Sequence length

553

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Thermogenesis Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		Formation of ATP by chemiosmotic coupling Cristae formation

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation deficiency 22	Pathogenic; Likely pathogenic	rs587777788, rs1131691396	RCV000144489 RCV001809449
Lactic acidosis	Likely pathogenic; Pathogenic	rs1555695342	RCV001293385
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A	Likely pathogenic; Pathogenic	rs1412572728, rs1555695342	RCV003313764 RCV003226313

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs79011243	RCV005896549
ATP5F1A-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs2144189607, rs2144178681, rs2512302155, rs143021657, rs1427323644, rs369451345, rs77958705, rs73440247, rs79011243, rs141639003, rs371042141	RCV002252689 RCV002253066 RCV003904218 RCV003947117 RCV003954484 RCV003954855 RCV003972608 RCV003912642 RCV003922748 RCV003902819 RCV003943057
Cervical cancer	Uncertain significance; Benign	rs751020903, rs79011243	RCV005927267 RCV005896552
Clear cell carcinoma of kidney	Benign	rs79011243	RCV005896553
Colon adenocarcinoma	Benign	rs79011243	RCV005896548
Colorectal cancer	Benign	rs79011243	RCV005896555
Gastric cancer	Benign	rs79011243	RCV005896557
Lung cancer	Benign	rs79011243	RCV005896562
Malignant lymphoma, large B-cell, diffuse	Benign	rs79011243	RCV005896554
Malignant tumor of esophagus	Benign	rs572709272, rs79011243	RCV005930606 RCV005896550
Melanoma	Benign	rs79011243	RCV005896561
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B	Conflicting classifications of pathogenicity; Uncertain significance	rs201332560, rs200905182, rs587776960	RCV005021592 RCV005021838 RCV000043508
Mitochondrial disease	Conflicting classifications of pathogenicity	rs2512310700	RCV003329210
Nonpapillary renal cell carcinoma	Benign	rs79011243	RCV005896551
Sarcoma	Benign	rs79011243	RCV005896556
Thymoma	Benign	rs79011243	RCV005896559
Thyroid cancer, nonmedullary, 1	Benign	rs79011243	RCV005896560
Uterine carcinosarcoma	Benign	rs79011243	RCV005896558
Uterine corpus endometrial carcinoma	Benign	rs79011243	RCV005896563

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Chromophobe	Associate	20440404
Autistic Disorder	Inhibit	23088660
Carcinogenesis	Associate	29207195, 34520292
Carcinoma Renal Cell	Associate	29207195
Colonic Neoplasms	Associate	35445138
Colorectal Neoplasms	Associate	24204606
COVID 19	Associate	33936072
Lung Neoplasms	Associate	24685647, 38066059
Mitochondrial Diseases	Associate	23596069
Neoplasms	Associate	29207195, 34520292, 36142793
Parkinson Disease	Associate	36593912
Stomach Neoplasms	Associate	37482618
Testicular Neoplasms	Associate	30924599
Uterine Cervical Neoplasms	Associate	34520292

ATP5F1A (ATP synthase F1 subunit alpha)