ATP5F1D
entrez
513
canonical
uniprot
P30049
canonical
ensembl
ENSG00000099624
resolver
ensp
ENSP00000215375
resolver
ensp
ENSP00000378995
resolver
ensp
ENSP00000464863
resolver
enst
ENST00000215375
resolver
enst
ENST00000395633
resolver
enst
ENST00000591660
resolver
genesymbol
ATP5F1D
resolver
genesymbol_syn
ATP5D
resolver
hgnc
HGNC:837
resolver
uniprot
D6W5Y3
resolver
uniprot
Q6FG90
resolver
uniprot_entry
ATPD_HUMAN
resolver
uniprot_sec
D6W5Y3
resolver
uniprot_sec
Q6FG90
resolver
amino_acid_sequence
MLPAALLRRPGLGRLVRHARAYAEAAAAPAAASGPNQMSFTFASPTQVFFNGANVRQVDVPTLTGAFGILAAHVPTLQVLRPGLVVVHAEDGTTSKYFVSSGSIAVNADSSVQLLAEEAVTLDMLDLGAAKANLEKAQAELVGTADEATRAEIQIRIEANEALVKALE
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120]: A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3-methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:29478781}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit delta, 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 (Probable) (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). With the central stalk subunit gamma, is essential for the biogenesis of F(1) catalytic part of the ATP synthase complex namely in the formation of F1 assembly intermediate (PubMed:29499186). {ECO:0000250|UniProtKB:P19483, ECO:0000269|PubMed:29499186, ECO:0000269|PubMed:37244256, ECO:0000305|PubMed:29478781, ECO:0000305|PubMed:37244256}.
uniprot
proteins
mass_dalton
17490
uniprot
proteins
protein_family
ATPase epsilon chain family
uniprot
proteins
pubmed
1286669
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
1531933
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29478781
uniprot
proteins
pubmed
29499186
uniprot
proteins
pubmed
37244256
uniprot
proteins
sequence_length
168
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
uniprot
proteins