Gene/Proteome Database (LMPD)

LMPD ID
LMP004216
Gene ID
26275
Species
Homo sapiens (Human)
Gene Name
3-hydroxyisobutyryl-CoA hydrolase
Gene Symbol
HIBCH
Synonyms
HIBYLCOAH
Alternate Names
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; HIBYL-CoA-H; HIB-CoA hydrolase; 3-hydroxyisobutyryl-Coenzyme A hydrolase
Chromosome
2
Map Location
2q32.2
EC Number
3.1.2.4
Summary
This 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]
Orthologs
View 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
MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF
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
MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMF
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: DAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF 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: DAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMF

Gene Information

Entrez Gene ID
26275
Gene Name
3-hydroxyisobutyryl-CoA hydrolase
Gene Symbol
HIBCH
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0070062 IDA:UniProt C extracellular vesicular exosome
GO:0005759 TAS:Reactome C mitochondrial matrix
GO:0003860 IDA:UniProtKB F 3-hydroxyisobutyryl-CoA hydrolase activity
GO:0009083 TAS:Reactome P branched-chain amino acid catabolic process
GO:0034641 TAS:Reactome P cellular nitrogen compound metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006574 IEA:UniProtKB-UniPathway P valine catabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa01200 Carbon metabolism

BIOCYC Pathway Links

BIOCYC Pathway ID Description
VALDEG-PWY valine degradation I

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_197 Branched-chain amino acid catabolism

Domain Information

InterPro Annotations

Accession Description
IPR029045 ClpP/crotonase-like domain
IPR014748 Crontonase, C-terminal

UniProt Annotations

Entry Information

Gene Name
3-hydroxyisobutyryl-CoA hydrolase
Protein Entry
HIBCH_HUMAN
UniProt ID
Q6NVY1
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NVY1-1; Sequence=Displayed; Name=2; IsoId=Q6NVY1-2; Sequence=VSP_024780; Note=No experimental confirmation available.;
Catalytic Activity 3-hydroxy-2-methylpropanoyl-CoA + H(2)O = CoA + 3-hydroxy-2-methylpropanoate.
Disease HIBCH deficiency (HIBCHD) [MIM
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.
Pathway Amino-acid degradation; L-valine degradation.
Sequence Caution Sequence=AAC52114.1; Type=Erroneous initiation; Evidence= ; Sequence=AAH05190.2; Type=Erroneous initiation; Evidence= ; Sequence=AAY24178.1; Type=Erroneous initiation; Evidence= ; Sequence=BAD96699.1; Type=Erroneous initiation; Evidence= ; Sequence=BAD96743.1; Type=Erroneous initiation; Evidence= ;
Similarity Belongs to the enoyl-CoA hydratase/isomerase family.
Subcellular Location Mitochondrion .
Tissue Specificity Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.

Identical and Related Proteins

Unique RefSeq proteins for LMP004216 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
37594471 RefSeq NP_055177 386 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor
37594469 RefSeq NP_932164 338 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 2 precursor

Identical Sequences to LMP004216 proteins

Reference Database Accession Length Protein Name
GI:37594471 GenBank AHD79849.1 386 Sequence 30796 from patent US 8586006
GI:37594469 GenBank AHD79850.1 338 Sequence 30797 from patent US 8586006
GI:37594471 SwissProt Q6NVY1.2 386 RecName: Full=3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; AltName: Full=3-hydroxyisobutyryl-coenzyme A hydrolase; Short=HIB-CoA hydrolase; Short=HIBYL-CoA-H; Flags: Precursor [Homo sapiens]

Related Sequences to LMP004216 proteins

Reference Database Accession Length Protein Name
GI:37594469 GenBank AAH05190.2 362 HIBCH protein, partial [Homo sapiens]
GI:37594471 GenBank EAX10875.1 386 3-hydroxyisobutyryl-Coenzyme A hydrolase, isoform CRA_a [Homo sapiens]
GI:37594469 GenBank EAX10875.1 386 3-hydroxyisobutyryl-Coenzyme A hydrolase, isoform CRA_a [Homo sapiens]
GI:37594471 GenBank JAA06082.1 386 3-hydroxyisobutyryl-CoA hydrolase [Pan troglodytes]
GI:37594471 GenBank JAA17967.1 386 3-hydroxyisobutyryl-CoA hydrolase [Pan troglodytes]
GI:37594471 GenBank JAA29422.1 386 3-hydroxyisobutyryl-CoA hydrolase [Pan troglodytes]
GI:37594471 GenBank JAA41142.1 386 3-hydroxyisobutyryl-CoA hydrolase [Pan troglodytes]
GI:37594469 GenBank AHD79849.1 386 Sequence 30796 from patent US 8586006
GI:37594469 RefSeq NP_055177.2 386 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor [Homo sapiens]
GI:37594471 RefSeq XP_515988.3 386 PREDICTED: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X1 [Pan troglodytes]
GI:37594469 RefSeq XP_009442157.1 338 PREDICTED: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X2 [Pan troglodytes]
GI:37594469 SwissProt Q6NVY1.2 386 RecName: Full=3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; AltName: Full=3-hydroxyisobutyryl-coenzyme A hydrolase; Short=HIB-CoA hydrolase; Short=HIBYL-CoA-H; Flags: Precursor [Homo sapiens]