ATP5F1E
entrez
514
canonical
uniprot
P56381
canonical
ensembl
ENSG00000124172
resolver
ensp
ENSP00000243997
resolver
ensp
ENSP00000379019
resolver
ensp
ENSP00000379023
resolver
ensp
ENSP00000600484
resolver
enst
ENST00000243997
resolver
enst
ENST00000395659
resolver
enst
ENST00000395663
resolver
enst
ENST00000930425
resolver
genesymbol
ATP5F1E
resolver
genesymbol_syn
ATP5E
resolver
hgnc
HGNC:838
resolver
uniprot
B2RDD0
resolver
uniprot
E1P5H6
resolver
uniprot
Q53XU6
resolver
uniprot_entry
ATP5E_HUMAN
resolver
uniprot_sec
B2RDD0
resolver
uniprot_sec
E1P5H6
resolver
uniprot_sec
Q53XU6
resolver
amino_acid_sequence
MVAYWRQAGLSYIRYSQICAKAVRDALKTEFKANAEKTSGSNVKIVKVKKE
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex V deficiency, nuclear type 3 (MC5DN3) [MIM:614053]: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. {ECO:0000269|PubMed:20566710, ECO:0000269|PubMed:34954817}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit epsilon, 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). May be essential for the assembly of F(1) and may play an important role in the incorporation of the hydrophobic subunit c into the F(1)-c oligomer rotor of the mitochondrial ATP synthase complex (PubMed:20026007). {ECO:0000250|UniProtKB:P19483, ECO:0000269|PubMed:20026007, ECO:0000269|PubMed:37244256, ECO:0000305|PubMed:37244256}.
uniprot
proteins
mass_dalton
5780
uniprot
proteins
protein_family
Eukaryotic ATPase epsilon family
uniprot
proteins
pubmed
10727396
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20026007
uniprot
proteins
pubmed
20566710
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
34954817
uniprot
proteins
pubmed
37244256
uniprot
proteins
sequence_length
51
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
uniprot
proteins