ATP5F1A
entrez
498
canonical
uniprot
P25705
canonical
ensembl
ENSG00000152234
resolver
ensp
ENSP00000282050
resolver
ensp
ENSP00000381736
resolver
ensp
ENSP00000465477
resolver
ensp
ENSP00000467037
resolver
ensp
ENSP00000609765
resolver
genesymbol
ATP5F1A
resolver
genesymbol
HEL-S-123m
resolver
genesymbol_syn
ATP5A
resolver
genesymbol_syn
ATP5A1
resolver
genesymbol_syn
ATP5AL2
resolver
genesymbol_syn
ATPM
resolver
hgnc
HGNC:823
resolver
uniprot
A8K092
resolver
uniprot
B4DY56
resolver
uniprot
K7ENP3
resolver
uniprot
Q53XX6
resolver
uniprot
Q8IXV2
resolver
uniprot
Q96FB4
resolver
uniprot
Q96HW2
resolver
uniprot
Q96IR6
resolver
uniprot
Q9BTV8
resolver
uniprot
V9HW26
resolver
uniprot_entry
ATPA_HUMAN
resolver
uniprot_entry
V9HW26_HUMAN
resolver
uniprot_sec
A8K092
resolver
uniprot_sec
B4DY56
resolver
uniprot_sec
K7ENP3
resolver
uniprot_sec
Q53XX6
resolver
uniprot_sec
Q8IXV2
resolver
uniprot_sec
Q96FB4
resolver
uniprot_sec
Q96HW2
resolver
uniprot_sec
Q96IR6
resolver
uniprot_sec
Q9BTV8
resolver
amino_acid_sequence
MLSVRVAAAVVRALPRRAGLVSRNALGSSFIAARNFHASNTHLQKTGTAEMSSILEERILGADTSVDLEETGRVLSIGDGIARVHGLRNVQAEEMVEFSSGLKGMSLNLEPDNVGVVVFGNDKLIKEGDIVKRTGAIVDVPVGEELLGRVVDALGNAIDGKGPIGSKTRRRVGLKAPGIIPRISVREPMQTGIKAVDSLVPIGRGQRELIIGDRQTGKTSIAIDTIINQKRFNDGSDEKKKLYCIYVAIGQKRSTVAQLVKRLTDADAMKYTIVVSATASDAAPLQYLAPYSGCSMGEYFRDNGKHALIIYDDLSKQAVAYRQMSLLLRRPPGREAYPGDVFYLHSRLLERAAKMNDAFGGGSLTALPVIETQAGDVSAYIPTNVISITDGQIFLETELFYKGIRPAINVGLSVSRVGSAAQTRAMKQVAGTMKLELAQYREVAAFAQFGSDLDAATQQLLSRGVRLTELLKQGQYSPMAIEEQVAVIYAGVRGYLDKLEPSKITKFENAFLSHVVSQHQALLGTIRADGKISEQSDAKLKEIVTNFLAGFEA
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 22 (COXPD22) [MIM:616045]: A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure. {ECO:0000269|PubMed:23596069}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial complex V deficiency, nuclear type 4A (MC5DN4A) [MIM:620358]: An autosomal dominant mitochondrial disorder characterized by failure to thrive, feeding difficulties, hyperlactatemia, hyperammonemia, and increased serum alanine levels. Some affected individuals show spontaneous resolution of the symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity. {ECO:0000269|PubMed:34483339, ECO:0000269|PubMed:34954817}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial complex V deficiency, nuclear type 4B (MC5DN4B) [MIM:615228]: An autosomal recessive mitochondrial disorder characterized by severe neonatal encephalopathy resulting in death in the first weeks of life. Affected individuals do not show dysmorphic features or organomegaly, and manifest neurologic features such as irritability, a high-pitched cry, a horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation. Post-mortem anatomopathological examination shows extensive cerebral damage, hypoplastic lungs, and renal and skeletal lesions. {ECO:0000269|PubMed:23599390}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit alpha, 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). 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 catalytic subunit beta (ATP5F1B), forms the catalytic core in the F(1) domain (PubMed:37244256). Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (Probable). Binds the bacterial siderophore enterobactin and can promote mitochondrial accumulation of enterobactin-derived iron ions (PubMed:30146159). {ECO:0000250|UniProtKB:P19483, ECO:0000269|PubMed:30146159, ECO:0000269|PubMed:37244256, ECO:0000305|PubMed:37244256}.
uniprot
proteins
mass_dalton
59751
uniprot
proteins
post_translational_modification
PTM: The N-terminus is blocked.; PTM: Acetylated on lysine residues. BLOC1S1 is required for acetylation. {ECO:0000269|PubMed:22309213}.
uniprot
proteins
protein_family
ATPase alpha/beta chains family
uniprot
proteins
pubmed
10077593
uniprot
proteins
pubmed
11410595
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
1830491
uniprot
proteins
pubmed
19285951
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19892738
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22309213
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23596069
uniprot
proteins
pubmed
23599390
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30146159
uniprot
proteins
pubmed
34483339
uniprot
proteins
pubmed
34954817
uniprot
proteins
pubmed
36374104
uniprot
proteins
pubmed
37244256
uniprot
proteins
pubmed
7498159
uniprot
proteins
pubmed
8086450
uniprot
proteins
pubmed
8428659
uniprot
proteins
sequence_length
553
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:30146159}. Mitochondrion inner membrane {ECO:0000250|UniProtKB:P19483}; Peripheral membrane protein {ECO:0000250|UniProtKB:P19483}; Matrix side {ECO:0000250|UniProtKB:P19483}. Cell membrane {ECO:0000269|PubMed:10077593}; Peripheral membrane protein {ECO:0000269|PubMed:10077593}; Extracellular side {ECO:0000269|PubMed:10077593}. Note=Colocalizes with HRG on the cell surface of T-cells (PubMed:19285951). {ECO:0000269|PubMed:19285951}.
uniprot
proteins