LMPD Database

LMP004216

Record overview

LMPD IDLMP004216
Gene ID26275
SpeciesHomo sapiens (Human)
Gene Name3-hydroxyisobutyryl-CoA hydrolase
Gene SymbolHIBCH
SynonymsHIBYLCOAH
Alternate names3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; HIBYL-CoA-H; HIB-CoA hydrolase; 3-hydroxyisobutyryl-Coenzyme A hydrolase
Chromosome2
Map Location2q32.2
EC Number3.1.2.4
SummaryThis gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
OrthologsView orthologs and multiple alignments for HIBCH

Proteins

3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor
Refseq ID:NP_055177
Protein GI:37594471
UniProt ID:Q6NVY1
mRNA ID:NM_014362
Length:386
RefSeq Status:REVIEWED
MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDI
RVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGF
RLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVIN
KMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF
 
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 2 precursor
Refseq ID:NP_932164
Protein GI:37594469
UniProt ID:Q6NVY1
mRNA ID:NM_198047
Length:338
RefSeq Status:REVIEWED
MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDI
RVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGF
RLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVIN
KMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMF
 
transit_peptide: 1..32
calculated_mol_wt: 4016
peptide sequence: 
MGQREMWRLMSRFNAFKRTNTILHHLRMSKHT

mat_peptide: 33..386
product: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1
calculated_mol_wt: 39485
peptide sequence: 
DAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQ
KPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLAL
KSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRL
SQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF transit_peptide: 1..32 calculated_mol_wt: 4016 peptide sequence: MGQREMWRLMSRFNAFKRTNTILHHLRMSKHT mat_peptide: 33..338 product: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 2 calculated_mol_wt: 34015 peptide sequence: DAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQ
KPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLAL
KSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRL
SQACMF