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    Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase [ Mus musculus (house mouse) ]

    Gene ID: 227095, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Hibchprovided by MGI
    Official Full Name
    3-hydroxyisobutyryl-Coenzyme A hydrolaseprovided by MGI
    Primary source
    MGI:MGI:1923792
    See related
    Ensembl:ENSMUSG00000041426 AllianceGenome:MGI:1923792
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HIBYL-COA-H; 2610509I15Rik
    Summary
    Predicted to enable 3-hydroxyisobutyryl-CoA hydrolase activity. Predicted to be involved in valine catabolic process. Located in mitochondrion. Human ortholog(s) of this gene implicated in 3-hydroxyisobutryl-CoA hydrolase deficiency. Orthologous to human HIBCH (3-hydroxyisobutyryl-CoA hydrolase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 20.4), heart adult (RPKM 15.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hibch in Genome Data Viewer
    Location:
    1 C1.1; 1 26.99 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (52884197..52960145)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (52845038..52920986)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene major facilitator superfamily domain containing 6 Neighboring gene STARR-seq mESC enhancer starr_00904 Neighboring gene STARR-positive B cell enhancer ABC_E3274 Neighboring gene STARR-positive B cell enhancer ABC_E1543 Neighboring gene inositol polyphosphate-1-phosphatase Neighboring gene STARR-positive B cell enhancer ABC_E3275 Neighboring gene STARR-seq mESC enhancer starr_00905 Neighboring gene heat shock protein 90, alpha (cytosolic), class A member 1 pseudogene Neighboring gene RIKEN cDNA 1700019D03 gene Neighboring gene STARR-seq mESC enhancer starr_00906 Neighboring gene STARR-seq mESC enhancer starr_00907 Neighboring gene myostatin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes. Gendrel AV, et al. Mol Cell Biol, 2013 Aug. PMID 23754746, Free PMC Article
    2. Interactome Analysis Reveals Regulator of G Protein Signaling 14 (RGS14) is a Novel Calcium/Calmodulin (Ca(2+)/CaM) and CaM Kinase II (CaMKII) Binding Partner. Evans PR, et al. J Proteome Res, 2018 Apr 6. PMID 29518331, Free PMC Article
    3. Chemical Crosslinking Mass Spectrometry Analysis of Protein Conformations and Supercomplexes in Heart Tissue. Chavez JD, et al. Cell Syst, 2018 Jan 24. PMID 29199018, Free PMC Article
    4. Mitochondrial protein interactome elucidated by chemical cross-linking mass spectrometry. Schweppe DK, et al. Proc Natl Acad Sci U S A, 2017 Feb 14. PMID 28130547, Free PMC Article
    5. The interactome of intact mitochondria by cross-linking mass spectrometry provides evidence for coexisting respiratory supercomplexes. Liu F, et al. Mol Cell Proteomics, 2018 Feb. PMID 29222160, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC31364

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-hydroxyisobutyryl-CoA hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-hydroxyisobutyryl-CoA hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 3-hydroxyisobutyryl-CoA hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    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 mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
    Names
    HIB-CoA hydrolase
    NP_666220.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_146108.2 → NP_666220.1  3-hydroxyisobutyryl-CoA hydrolase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_666220.1

      Status: VALIDATED

      Source sequence(s)
      AC110177, AK076038, AK082965
      Consensus CDS
      CCDS14948.1
      UniProtKB/Swiss-Prot
      Q8QZS1
      Related
      ENSMUSP00000045606.7, ENSMUST00000044478.7
      Conserved Domains (2) summary
      PRK05617
      Location:33 → 377
      PRK05617; 3-hydroxyisobutyryl-CoA hydrolase; Provisional
      pfam16113
      Location:46 → 374
      ECH_2; Enoyl-CoA hydratase/isomerase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      52884197..52960145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8QZS1.1 GenPept UniProtKB/Swiss-Prot:Q8QZS1

    Gene LinkOut

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

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