Gene table of ATP5A1 : ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATP5A1	OMIM link	Number of associated genes	genes
PS609060	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	29	C12orf65, FARS2, GFM1, TARS2, MTFMT, MTO1, AIFM1, EARS2, NARS2, SFXN4, MRPS22, PNPT1, TSFM, ATP5A1, LYRM4, SLC25A26, MRPS16, MRPL3, TUFM, TRMT5, MRPL44, GTPBP3, VARS2, CARS2, RMND1, ELAC2, AARS2, TXN2, MARS2
615228	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP5A1

Download the gene annotation in CSV format

Annotation of the gene ATP5A1

Associated genes in ENSEMBL

ENSG00000152234

Associated proteins - SwissProt Accession ID

P25705

Associated PDB IDs

Cytogenetic Band

18q21.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

USF2

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Huntington's disease	hsa05016	5.17
Metabolic pathways	hsa01100	2.49
Alzheimer's disease	hsa05010	5.34
Parkinson's disease	hsa05012	5.59
Oxidative phosphorylation	hsa00190	5.69

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	R-HSA-163200	6.12
Formation of ATP by chemiosmotic coupling	R-HSA-163210	8.81
Mitochondrial protein import	R-HSA-1268020	7.28
The citric acid (TCA) cycle and respiratory electron transport	R-HSA-1428517	5.71
Metabolism of proteins	R-HSA-392499	3.41
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ATPase activity	GO:0016887	3.65
purine ribonucleoside triphosphate binding	GO:0035639	2.22
hydrogen-exporting ATPase activity	GO:0036442	6.44
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
ATPase coupled ion transmembrane transporter activity	GO:0042625	5.46
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
proton-transporting ATP synthase activity, rotational mechanism	GO:0046933	7.25
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
transporter activity	GO:0005215	2.57
nucleotide binding	GO:0000166	1.96
primary active transmembrane transporter activity	GO:0015399	4.98
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
active transmembrane transporter activity	GO:0022804	3.85
hydrolase activity	GO:0016787	1.9
protein binding	GO:0005515	0.46
MHC class I protein binding	GO:0042288	6.85
MHC protein binding	GO:0042287	6.18
poly(A) RNA binding	GO:0044822	2.69
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
proton-transporting ATPase activity, rotational mechanism	GO:0046961	6.6
ATPase activity, coupled to transmembrane movement of ions, rotational mechanism	GO:0044769	6.48
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
hydrogen ion transmembrane transporter activity	GO:0015078	5.01
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled to movement of substances	GO:0043492	4.93
ATPase activity, coupled	GO:0042623	3.97
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
cation-transporting ATPase activity	GO:0019829	5.64
ion transmembrane transporter activity	GO:0015075	3.04
pyrophosphatase activity	GO:0016462	3.04
transmembrane transporter activity	GO:0022857	2.82
purine ribonucleoside binding	GO:0032550	2.22
adenyl ribonucleotide binding	GO:0032559	2.41
RNA binding	GO:0003723	2.36
active ion transmembrane transporter activity	GO:0022853	5.06
purine ribonucleotide binding	GO:0032555	2.2
receptor binding	GO:0005102	2.43
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ribonucleotide binding	GO:0032553	2.19