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    Hibadh 3-hydroxyisobutyrate dehydrogenase [ Mus musculus (house mouse) ]

    Gene ID: 58875, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Hibadhprovided by MGI
    Official Full Name
    3-hydroxyisobutyrate dehydrogenaseprovided by MGI
    Primary source
    MGI:MGI:1889802
    See related
    Ensembl:ENSMUSG00000029776 AllianceGenome:MGI:1889802
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    6430402H10Rik
    Summary
    Predicted to enable 3-hydroxyisobutyrate dehydrogenase activity. Predicted to be involved in valine catabolic process. Located in mitochondrion. Is expressed in several structures, including genitourinary system; gut; limb mesenchyme; liver and biliary system; and nervous system. Orthologous to human HIBADH (3-hydroxyisobutyrate dehydrogenase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney adult (RPKM 114.2), liver adult (RPKM 95.3) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Hibadh in Genome Data Viewer
    Location:
    6 B3; 6 25.6 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (52523215..52617285, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (52546230..52640300, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene VISTA enhancer mm1524 Neighboring gene ribosomal protein L38 pseudogene Neighboring gene STARR-seq mESC enhancer starr_15904 Neighboring gene VISTA enhancer mm48 Neighboring gene RIKEN cDNA 1700094M24 gene Neighboring gene STARR-seq mESC enhancer starr_15905 Neighboring gene predicted gene, 33047 Neighboring gene STARR-seq mESC enhancer starr_15906 Neighboring gene STARR-seq mESC enhancer starr_15907 Neighboring gene STARR-positive B cell enhancer ABC_E536 Neighboring gene predicted gene, 24355 Neighboring gene STARR-positive B cell enhancer ABC_E8104 Neighboring gene 60S ribosomal protein L24 pseudogene Neighboring gene Tax1 (human T cell leukemia virus type I) binding protein 1

    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. Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplication. Lehoczky JA, et al. Evol Dev, 2004 Nov-Dec. PMID 15509224
    2. A gene expression resource generated by genome-wide lacZ profiling in the mouse. Tuck E, et al. Dis Model Mech, 2015 Nov. PMID 26398943, Free PMC Article
    3. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways. Narayan SB, et al. PLoS One, 2012. PMID 22496890, 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 Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3. Sánchez-Bellver L, et al. Int J Mol Sci, 2022 Oct 19. PMID 36293380, Free PMC Article

    See all (30) 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 (1) 
    • Gene trapped (1) 
    • Targeted (3) 

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 3-hydroxyisobutyrate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-hydroxyisobutyrate dehydrogenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 3-hydroxyisobutyrate dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables NAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables NADP binding IEA
    Inferred from Electronic Annotation
    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
    		  
    involved_in valine catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in valine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    3-hydroxyisobutyrate dehydrogenase, mitochondrial
    NP_663542.1

    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_145567.1 → NP_663542.1  3-hydroxyisobutyrate dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_663542.1

      Status: PROVISIONAL

      Source sequence(s)
      BC003914
      Consensus CDS
      CCDS20151.1
      UniProtKB/Swiss-Prot
      Q8BJY2, Q99L13
      UniProtKB/TrEMBL
      A0ZNJ2
      Related
      ENSMUSP00000031788.9, ENSMUST00000031788.9
      Conserved Domains (3) summary
      TIGR01692
      Location:43 → 330
      HIBADH; 3-hydroxyisobutyrate dehydrogenase
      pfam03446
      Location:38 → 199
      NAD_binding_2; NAD binding domain of 6-phosphogluconate dehydrogenase
      pfam14833
      Location:202 → 329
      NAD_binding_11; NAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      52523215..52617285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99L13.1 GenPept UniProtKB/Swiss-Prot:Q99L13

    Gene LinkOut

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

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