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

    Gene ID: 26275, updated on 23-Nov-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HIBCH in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    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_014362.4NP_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:34378
      PRK05617; 3-hydroxyisobutyryl-CoA hydrolase; Provisional
      pfam16113
      Location:47375
      ECH_2; Enoyl-CoA hydratase/isomerase
    2. NM_198047.3NP_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:47337
      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_047443905.1XP_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_011510954.2XP_011509256.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X2

      Conserved Domains (1) summary
      pfam16113
      Location:1209
      ECH_2; Enoyl-CoA hydratase/isomerase
    3. XM_011510953.3XP_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:34378
      PRK05617; 3-hydroxyisobutyryl-CoA hydrolase; Provisional
      pfam16113
      Location:47375
      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_054341354.1XP_054197329.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform X2

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

    RNA

    1. XR_008486321.1 RNA Sequence