HIBCH
entrez
26275
canonical
uniprot
Q6NVY1
canonical
ensembl
ENSG00000198130
resolver
ensp
ENSP00000352706
resolver
ensp
ENSP00000376144
resolver
ensp
ENSP00000540465
resolver
ensp
ENSP00000657723
resolver
ensp
ENSP00000657724
resolver
genesymbol
HIBCH
resolver
hgnc
HGNC:4908
resolver
uniprot
A0A140VJL0
resolver
uniprot
D3DPI4
resolver
uniprot
Q53GA8
resolver
uniprot
Q53GF2
resolver
uniprot
Q53RF7
resolver
uniprot
Q53TC6
resolver
uniprot
Q92931
resolver
uniprot
Q9BS94
resolver
uniprot_entry
A0A140VJL0_HUMAN
resolver
uniprot_entry
HIBCH_HUMAN
resolver
uniprot_sec
D3DPI4
resolver
uniprot_sec
Q53GA8
resolver
uniprot_sec
Q53GF2
resolver
uniprot_sec
Q53RF7
resolver
uniprot_sec
Q53TC6
resolver
uniprot_sec
Q92931
resolver
uniprot_sec
Q9BS94
resolver
amino_acid_sequence
MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF
uniprot
proteins
disease_involvement
DISEASE: 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]: An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. {ECO:0000269|PubMed:17160907}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.2.4
uniprot
proteins
function
FUNCTION: Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. {ECO:0000269|PubMed:8824301}.
uniprot
proteins
mass_dalton
43482
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-valine degradation.
uniprot
proteins
protein_family
Enoyl-CoA hydratase/isomerase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17160907
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
8824301
uniprot
proteins
sequence_length
386
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
uniprot
proteins