ATP5F1B
entrez
506
canonical
uniprot
P06576
canonical
ensembl
ENSG00000110955
resolver
ensp
ENSP00000262030
resolver
enst
ENST00000262030
resolver
genesymbol
ATP5F1B
resolver
genesymbol
HEL-S-271
resolver
genesymbol_syn
ATP5B
resolver
genesymbol_syn
ATPMB
resolver
genesymbol_syn
ATPSB
resolver
hgnc
HGNC:830
resolver
uniprot
A8K4X0
resolver
uniprot
Q14283
resolver
uniprot
V9HW31
resolver
uniprot_entry
ATPB_HUMAN
resolver
uniprot_entry
V9HW31_HUMAN
resolver
uniprot_sec
A8K4X0
resolver
uniprot_sec
Q14283
resolver
amino_acid_sequence
MLGFVGRVAAAPASGALRRLTPSASLPPAQLLLRAAPTAVHPVRDYAAQTSPSPKAGAATGRIVAVIGAVVDVQFDEGLPPILNALEVQGRETRLVLEVAQHLGESTVRTIAMDGTEGLVRGQKVLDSGAPIKIPVGPETLGRIMNVIGEPIDERGPIKTKQFAPIHAEAPEFMEMSVEQEILVTGIKVVDLLAPYAKGGKIGLFGGAGVGKTVLIMELINNVAKAHGGYSVFAGVGERTREGNDLYHEMIESGVINLKDATSKVALVYGQMNEPPGARARVALTGLTVAEYFRDQEGQDVLLFIDNIFRFTQAGSEVSALLGRIPSAVGYQPTLATDMGTMQERITTTKKGSITSVQAIYVPADDLTDPAPATTFAHLDATTVLSRAIAELGIYPAVDPLDSTSRIMDPNIVGSEHYDVARGVQKILQDYKSLQDIIAILGMDELSEEDKLTVSRARKIQRFLSQPFQVAEVFTGHMGKLVPLKETIKGFQQILAGEYDHLPEQAFYMVGPIEEAVAKADKLAEEHSS
uniprot
proteins
disease_involvement
DISEASE: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 (HUMOP2) [MIM:620085]: A disorder apparent in infancy and characterized by euthyroid hypermetabolism, failure to thrive despite excessive caloric intake, intermittent hyperthermia, and developmental delay. {ECO:0000269|PubMed:36239646}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Dystonia 38 (DYT38) [MIM:621502]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT38 is an autosomal dominant form with incomplete penetrance characterized by the onset of focal dystonia in childhood or the early teenage years. {ECO:0000269|PubMed:36860166}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.1.2.2
uniprot
proteins
function
FUNCTION: Catalytic subunit beta, 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 subunit alpha (ATP5F1A), forms the catalytic core in the F(1) domain (PubMed:37244256). {ECO:0000250|UniProtKB:P19483, ECO:0000269|PubMed:37244256, ECO:0000305|PubMed:25168243, ECO:0000305|PubMed:36239646, ECO:0000305|PubMed:37244256}.
uniprot
proteins
mass_dalton
56560
uniprot
proteins
protein_family
ATPase alpha/beta chains family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15242332
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19892738
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25168243
uniprot
proteins
pubmed
25787250
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2687158
uniprot
proteins
pubmed
2870059
uniprot
proteins
pubmed
2896550
uniprot
proteins
pubmed
2900241
uniprot
proteins
pubmed
32243843
uniprot
proteins
pubmed
36239646
uniprot
proteins
pubmed
36374104
uniprot
proteins
pubmed
36860166
uniprot
proteins
pubmed
37244256
uniprot
proteins
sequence_length
529
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:25168243}; Peripheral membrane protein {ECO:0000250|UniProtKB:P00829}; Matrix side {ECO:0000250|UniProtKB:P00829, ECO:0000269|PubMed:25168243}.
uniprot
proteins