U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 26275, updated on 2-Nov-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
    See HIBCH in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190189735..190319826, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190693510..190809397, complement)
    RS_2024_09 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 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. 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
    2. 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
    3. 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
    4. Human liver disease decreases methacrylyl-CoA hydratase and beta-hydroxyisobutyryl-CoA hydrolase activities in valine catabolism. Ishigure K, et al. Clin Chim Acta, 2001 Oct. PMID 11580916
    5. 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

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two genetic variants in the HIBCH and FTCDNL1 genes are associated with susceptibility to developmental dysplasia of the hips among the Han Chinese population of Southwest China.
      Title: Two genetic variants in the HIBCH and FTCDNL1 genes are associated with susceptibility to developmental dysplasia of the hips among the Han Chinese population of Southwest China.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. Polymorphism in HIBCH is associated with HIBCH deficiency.
      Title: A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.
    7. 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.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    9. 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 
    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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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