U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

HIBCH 3-hydroxyisobutyryl-CoA hydrolase [ Homo sapiens (human) ]

Gene ID: 26275, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
HIBCHprovided by HGNC
Official Full Name
3-hydroxyisobutyryl-CoA hydrolaseprovided by HGNC
Primary source
HGNC:HGNC:4908
See related
Ensembl:ENSG00000198130 MIM:610690; AllianceGenome:HGNC:4908
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HIBYLCOAH
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]
Expression
Broad expression in kidney (RPKM 69.9), adrenal (RPKM 32.9) and 23 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
2q32.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190189735..190319826, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190693510..190809397, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191068646..191184552, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 88 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16858 Neighboring gene ring finger protein 11 pseudogene 1 Neighboring gene myostatin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:191045543-191046342 Neighboring gene Sharpr-MPRA regulatory region 4599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191144703-191145674 Neighboring gene serine/arginine repetitive matrix protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12178 Neighboring gene inositol polyphosphate-1-phosphatase Neighboring gene ReSE screen-validated silencer GRCh37_chr2:191293549-191293748 Neighboring gene major facilitator superfamily domain containing 6 Neighboring gene nuclear envelope integral membrane protein 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Targeting HIBCH to reprogram valine metabolism for the treatment of colorectal cancer. Shan Y, et al. Cell Death Dis, 2019 Aug 13. PMID 31409769, Free PMC Article
  2. A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene. Schottmann G, et al. Mov Disord, 2016 Nov. PMID 27400804
  3. A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. Molloy AM, et al. Am J Hum Genet, 2016 May 5. PMID 27132595, Free PMC Article
  4. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Ferdinandusse S, et al. Orphanet J Rare Dis, 2013 Dec 4. PMID 24299452, Free PMC Article
  5. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. Loupatty FJ, et al. Am J Hum Genet, 2007 Jan. PMID 17160907, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
    Title: Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
  2. A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B12 status (cB12) and connects B12 status with utilization of mitochondrial substrates and energy metabolism.
    Title: A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B(12) status (cB(12)) and connects B(12) status with utilization of mitochondrial substrates and energy metabolism.
  3. The present study identified HIBCH as a critical enzyme of valine catabolism in colorectal cancer progression.
    Title: Targeting HIBCH to reprogram valine metabolism for the treatment of colorectal cancer.
  4. Novel (founder) mutation in HIBCH that causes a mild phenotype, allowing survival into adulthood.
    Title: A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
  5. Polymorphism in HIBCH is associated with HIBCH deficiency.
    Title: A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.
  6. findings demonstrated a novel homozygous pathogenic missense mutation c.950G <A; p.Gly317Glu in the HIBCH gene, which segregated with infantile-onset neurodegeneration within a Pakistani family; HIBCH deficiency, a disorder of valine catabolism, is a novel cause of the multiple mitochondrial dysfunctions syndrome
    Title: HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  8. Molecular analysis in both patients uncovered mutations in the HIBCH gene, including one missense mutation in a conserved part of the protein and two mutations affecting splicing.
    Title: Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency
MedGen: C0342738 OMIM: 250620 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
Knockdown of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-hydroxyisobutyryl-CoA hydrolase activity EXP
Inferred from Experiment
more info
 PubMed 
enables 3-hydroxyisobutyryl-CoA hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3-hydroxyisobutyryl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
  
involved_in valine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in valine catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
Names
3-hydroxyisobutyryl-Coenzyme A hydrolase
HIB-CoA hydrolase
HIBYL-CoA-H
testicular tissue protein Li 86
NP_055177.2
NP_932164.1
XP_011509255.1
XP_011509256.1
XP_047299861.1
XP_054197328.1
XP_054197329.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017062.2 RefSeqGene

    Range
    5000..120906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014362.4 → NP_055177.2  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_055177.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC010679, AC092178, AK223023
    Consensus CDS
    CCDS2304.1
    UniProtKB/Swiss-Prot
    D3DPI4, Q53GA8, Q53GF2, Q53RF7, Q53TC6, Q6NVY1, Q92931, Q9BS94
    UniProtKB/TrEMBL
    A0A140VJL0
    Related
    ENSP00000352706.5, ENST00000359678.10
    Conserved Domains (2) summary
    PRK05617
    Location:34 → 378
    PRK05617; 3-hydroxyisobutyryl-CoA hydrolase; Provisional
    pfam16113
    Location:47 → 375
    ECH_2; Enoyl-CoA hydratase/isomerase

  2. NM_198047.3 → NP_932164.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_932164.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC010679, AC092178, AK223023, BC005190
    Consensus CDS
    CCDS46475.1
    UniProtKB/Swiss-Prot
    Q6NVY1
    Related
    ENSP00000376144.3, ENST00000392332.7
    Conserved Domains (1) summary
    pfam16113
    Location:47 → 337
    ECH_2; Enoyl-CoA hydratase/isomerase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    190189735..190319826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443905.1 → XP_047299861.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    D3DPI4, Q53GA8, Q53GF2, Q53RF7, Q53TC6, Q6NVY1, Q92931, Q9BS94
    UniProtKB/TrEMBL
    A0A140VJL0

  2. XM_011510954.2 → XP_011509256.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X2

    Conserved Domains (1) summary
    pfam16113
    Location:1 → 209
    ECH_2; Enoyl-CoA hydratase/isomerase

  3. XM_011510953.3 → XP_011509255.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011509255.1

    UniProtKB/Swiss-Prot
    D3DPI4, Q53GA8, Q53GF2, Q53RF7, Q53TC6, Q6NVY1, Q92931, Q9BS94
    UniProtKB/TrEMBL
    A0A140VJL0
    Conserved Domains (2) summary
    PRK05617
    Location:34 → 378
    PRK05617; 3-hydroxyisobutyryl-CoA hydrolase; Provisional
    pfam16113
    Location:47 → 375
    ECH_2; Enoyl-CoA hydratase/isomerase

RNA

  1. XR_922903.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    190693510..190809397 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341354.1 → XP_054197329.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X2

  2. XM_054341353.1 → XP_054197328.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X3

RNA

  1. XR_008486321.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NVY1.2 GenPept UniProtKB/Swiss-Prot:Q6NVY1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous