ATP8 (mitochondrially encoded ATP synthase 8)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4509
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrially encoded ATP synthase 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP8
Synonyms (NCBI Gene) Gene synonyms aliases
ATPase8, MTATP8
Chromosome Chromosome number
MT
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
-
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0000276 Component Mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0005753 Component Mitochondrial proton-transporting ATP synthase complex IBA 21873635
GO:0005753 Component Mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0006754 Process ATP biosynthetic process TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
516070 7415 HGNC
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence length 68
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208
Cardiomyopathy CARDIOMYOPATHY, INFANTILE HYPERTROPHIC rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)		 19188198
Cardiomyopathy, apical hypertrophic and neuropathy CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY rs267606881
Histiocytoid cardiomyopathy Histiocytoid Cardiomyopathy rs387906422, rs786205225 26803244, 19188198
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Progressive external ophthalmoplegia Chronic progressive external ophthalmoplegia ClinVar
Show/Hide Text Mining Associations (19)
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 23747897
Adenoma Villous Associate 20929553
Adenomatous Polyps Associate 20929553
Breast Neoplasms Associate 25110199
Charcot Marie Tooth Disease Associate 22933740
Diabetes Mellitus Type 2 Associate 29208909
Diarrhea Associate 23840124
Distal Hereditary Motor Neuropathy Type II Associate 22933740
Essential Hypertension Associate 30326913
Glaucoma 3 Primary Congenital A Associate 23401651