ATP8 (mitochondrially encoded ATP synthase 8)

Gene

• Entrez ID: 4509
• Gene name: Mitochondrially encoded ATP synthase 8
• Gene symbol: ATP8
• Synonyms (NCBI Gene): ATPase8, MTATP8
• Chromosome: MT
• Chromosome location: -

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32516135
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IC	12110673
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	26297831
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006754	Process	ATP biosynthetic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IEA
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	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	IDA	12110673
GO:0045259	Component	Proton-transporting ATP synthase complex	IBA
GO:0045259	Component	Proton-transporting ATP synthase complex	IDA	12110673
GO:0045259	Component	Proton-transporting ATP synthase complex	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	NAS	26297831
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IDA	12110673
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 516070
• HGNC: 7415
• e!Ensembl: HGNC

Protein

• UniProt ID: P03928
• Protein name: ATP synthase F(0) complex subunit 8 (A6L) (F-ATPase subunit 8)
• Protein function: Subunit 8, 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 resp
• PDB: 8H9F, 8H9J, 8H9M, 8H9Q, 8H9S, 8H9T, 8H9U, 8H9V, 8KHF, 8KI3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00895	ATP-synt_8	1 → 55	ATP synthase protein 8	Family

• Sequence:

  MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICS
  LHSLPPQS

• Sequence length: 68

Pathways

KEGG:

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

Reactome:

Formation of ATP by chemiosmotic coupling
Cristae formation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BICUSPID AORTIC VALVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE AND BILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODIC PARALYSIS WITH LATER-ONSET DISTAL MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROD-CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULNAR POLYDACTYLY OF FINGERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	25010670		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	20929553		★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25010670		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	25110199, 25896597		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25110199	Associate	★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY	Cardiomyopathy, apical hypertrophic and neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	Cardiomyopathy	UNIPROT_DG	19188198		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28708239		★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29208909	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29208909		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	23840124	Associate	★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	22933740	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	30326913	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	23401651	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	CLINVAR_DG	19188198, 26803244		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	38447791	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19401720	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	36066780	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	23840124	Associate	★☆☆☆☆ Found in Text Mining only
Isolated ATP synthase deficiency	Isolated ATP Synthase Deficiency	ORPHANET_DG	21686774		★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	16217706, 27502083		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	38062538	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25110199, 25896597		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27502083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	17619138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	17619138, 35130313	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	17954552		★☆☆☆☆ Found in Text Mining only
Neuropathy ataxia and retinis pigmentosa	Neuropathy Ataxia And Retinis Pigmentosa	BEFREE	27502083		★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	CLINVAR_DG	28027978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodic paralysis with later-onset distal motor neuropathy	Periodic Paralysis With Distal Motor Neuropathy	ORPHANET_DG	24153443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	25756807		★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	31358833	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37482618	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	27502083		★☆☆☆☆ Found in Text Mining only