ATPAF2
entrez
91647
canonical
uniprot
Q8N5M1
canonical
ensembl
ENSG00000171953
resolver
ensp
ENSP00000417190
resolver
ensp
ENSP00000747195
resolver
ensp
ENSP00000777894
resolver
enst
ENST00000474627
resolver
genesymbol
ATPAF2
resolver
genesymbol_syn
ATP12
resolver
hgnc
HGNC:18802
resolver
uniprot
A6NDE5
resolver
uniprot
A8K2J2
resolver
uniprot
Q6XYC7
resolver
uniprot_entry
ATPF2_HUMAN
resolver
uniprot_sec
A6NDE5
resolver
uniprot_sec
A8K2J2
resolver
uniprot_sec
Q6XYC7
resolver
amino_acid_sequence
MWRSCLRLRDGGRRLLNRPAGGPSASMSPGPTIPSPARAYAPPTERKRFYQNVSITQGEGGFEINLDHRKLKTPQAKLFTVPSEALAIAVATEWDSQQDTIKYYTMHLTTLCNTSLDNPTQRNKDQLIRAAVKFLDTDTICYRVEEPETLVELQRNEWDPIIEWAEKRYGVEISSSTSIMGPSIPAKTREVLVSHLASYNTWALQGIEFVAAQLKSMVLTLGLIDLRLTVEQAVLLSRLEEEYQIQKWGNIEWAHDYELQELRARTAAGTLFIHLCSESTTVKHKLLKE
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex V deficiency, nuclear type 1 (MC5DN1) [MIM:604273]: 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:14757859}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). {ECO:0000269|PubMed:11410595}.
uniprot
proteins
mass_dalton
32772
uniprot
proteins
protein_family
ATP12 family
uniprot
proteins
pubmed
11410595
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14757859
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28719601
uniprot
proteins
sequence_length
289
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11410595}; Peripheral membrane protein {ECO:0000305|PubMed:11410595}.
uniprot
proteins