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MGP004840

Record overview

MGPD IDMGP004840
Gene ID26275
SpeciesHomo sapiens (Human)
Gene Name3-hydroxyisobutyryl-CoA hydrolase
Gene Symbol HIBCH
SynonymsHIBYLCOAH;
Alternate names3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; 3-hydroxyisobutyryl-Coenzyme A hydrolase; HIB-CoA hydrolase; HIBYL-CoA-H;
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:
MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDI
RVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGF
RLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVIN
KMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF
 
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

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
 
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:
MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDI
RVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGF
RLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVIN
KMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMF
 
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
 
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