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

Gene Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	498
Gene name Gene Name - the full gene name approved by the HGNC.	ATP synthase F1 subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATP5F1A
Synonyms (NCBI Gene) Gene synonyms aliases	ATP5A, ATP5A1, ATP5AL2, ATPM, COXPD22, HEL-S-123m, MC5DN4, MC5DN4A, MC5DN4B, MOM2, OMR, ORM, hATP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	COXPD22, MC5DN4A, MC5DN4B
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
USF2	Activation	10434034

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	10077593
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
GO:0005524	Function	ATP binding	IBA	21873635
GO:0005524	Function	ATP binding	ISS
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	NAS	1830491
GO:0005743	Component	Mitochondrial inner membrane	IDA	19016746
GO:0005753	Component	Mitochondrial proton-transporting ATP synthase complex	IDA	12110673
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	10077593
GO:0006629	Process	Lipid metabolic process	ISS
GO:0006754	Process	ATP biosynthetic process	IMP	21106936
GO:0006754	Process	ATP biosynthetic process	NAS	1830491
GO:0006754	Process	ATP biosynthetic process	TAS
GO:0008180	Component	COP9 signalosome	IDA	18850735
GO:0015986	Process	ATP synthesis coupled proton transport	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	21106936
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0042288	Function	MHC class I protein binding	IDA	17643490
GO:0042407	Process	Cristae formation	TAS
GO:0042776	Process	Mitochondrial ATP synthesis coupled proton transport	IDA	12110673
GO:0042776	Process	Mitochondrial ATP synthesis coupled proton transport	TAS
GO:0043531	Function	ADP binding	IBA	21873635
GO:0043532	Function	Angiostatin binding	IPI	21106936
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IGI	21106936
GO:0045259	Component	Proton-transporting ATP synthase complex	IDA	21106936
GO:0045261	Component	Proton-transporting ATP synthase complex, catalytic core F(1)	IBA	21873635
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IDA	12110673
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

MIM	HGNC	e!Ensembl
164360	823	ENSG00000152234

Protein

UniProt ID

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 (7)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	19374891
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517 View all (155 more)	23596069, 23599390
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863 View all (210 more)	23596069, 23599390
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424 View all (116 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Pulmonary hypoplasia	Congenital hypoplasia of lung	ClinVar
Congestive heart failure	Congestive heart failure	ClinVar
Mitochondrial Diseases	mitochondrial disease	GenCC
Mitochondrial Complex Deficiency	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B, mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A	GenCC
Combined Oxidative Phosphorylation Deficiency	combined oxidative phosphorylation deficiency 22	GenCC

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining
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)