ATP8
entrez
4509
canonical
uniprot
P03928
canonical
ensembl
ENSG00000228253
resolver
ensp
ENSP00000355265
resolver
enst
ENST00000361851
resolver
genesymbol
ATP8
resolver
genesymbol
MT-ATP8
resolver
genesymbol_syn
ATP8
resolver
genesymbol_syn
ATPASE8
resolver
genesymbol_syn
ATPase8
resolver
genesymbol_syn
MTATP8
resolver
hgnc
HGNC:7415
resolver
uniprot
A0A1X7RCP4
resolver
uniprot
Q34771
resolver
uniprot
U5YV54
resolver
uniprot_entry
ATP8_HUMAN
resolver
uniprot_entry
U5YV54_HUMAN
resolver
uniprot_sec
A0A1X7RCP4
resolver
uniprot_sec
Q34771
resolver
amino_acid_sequence
MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKICSLHSLPPQS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex V deficiency, mitochondrial 2 (MC5DM2) [MIM:516070]: A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. {ECO:0000269|PubMed:19188198}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, infantile hypertrophic (CMHI) [MIM:500006]: An infantile form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:19188198}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
uniprot
proteins
function
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 respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (PubMed:37244256). {ECO:0000250|UniProtKB:P19483, ECO:0000269|PubMed:37244256, ECO:0000305|PubMed:37244256}.
uniprot
proteins
mass_dalton
7992
uniprot
proteins
protein_family
ATPase protein 8 family
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
12840039
uniprot
proteins
pubmed
12949126
uniprot
proteins
pubmed
14760490
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
19188198
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
32516135
uniprot
proteins
pubmed
37244256
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
7530363
uniprot
proteins
pubmed
9461455
uniprot
proteins
sequence_length
68
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane; Single-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 8..21; /note="Helical"; /evidence="ECO:0000255, ECO:0000269|PubMed:37244256, ECO:0007744|PDB:8H9V
uniprot
proteins