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    HIBADH 3-hydroxyisobutyrate dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 11112, updated on 23-May-2018
    Official Symbol
    HIBADHprovided by HGNC
    Official Full Name
    3-hydroxyisobutyrate dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:4907
    See related
    Ensembl:ENSG00000106049 MIM:608475; Vega:OTTHUMG00000097035
    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
    NS5ATP1
    Summary
    This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]
    Expression
    Ubiquitous expression in kidney (RPKM 59.3), adrenal (RPKM 50.9) and 24 other tissues See more
    Orthologs
    See HIBADH in Genome Data Viewer
    Location:
    7p15.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (27525440..27663001, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27565059..27702620, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 2 Neighboring gene coiled-coil domain containing 86 pseudogene Neighboring gene uncharacterized LOC107986699 Neighboring gene uncharacterized LOC105375211 Neighboring gene testis-expressed, seven-twelve, leukemia Neighboring gene uncharacterized LOC105375210 Neighboring gene Tax1 binding protein 1 Neighboring gene JAZF zinc finger 1 Neighboring gene uncharacterized LOC105375208

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC40361

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-hydroxyisobutyrate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    3-hydroxyisobutyrate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    3-hydroxyisobutyrate dehydrogenase activity TAS
    Traceable Author Statement
    more info
     
    NAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphogluconate dehydrogenase (decarboxylating) activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    branched-chain amino acid catabolic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    valine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    valine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    valine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    3-hydroxyisobutyrate dehydrogenase, mitochondrial
    Names
    3'-hydroxyisobutyrate dehydrogenase
    NP_689953.1
    XP_016867208.1

    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_152740.3NP_689953.1  3-hydroxyisobutyrate dehydrogenase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_689953.1

      Status: REVIEWED

      Source sequence(s)
      AB050000, BP343005, CA449571
      Consensus CDS
      CCDS5414.1
      UniProtKB/Swiss-Prot
      P31937
      UniProtKB/TrEMBL
      A0A024RA75
      Related
      ENSP00000265395.2, OTTHUMP00000122531, ENST00000265395.6, OTTHUMT00000214132
      Conserved Domains (1) summary
      TIGR01692
      Location:44331
      HIBADH; 3-hydroxyisobutyrate dehydrogenase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      27525440..27663001 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011719.2XP_016867208.1  3-hydroxyisobutyrate dehydrogenase, mitochondrial isoform X1

      Conserved Domains (3) summary
      TIGR01692
      Location:1230
      HIBADH; 3-hydroxyisobutyrate dehydrogenase
      pfam14833
      Location:102229
      NAD_binding_11; NAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase
      cl21454
      Location:199
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
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