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

    Gene ID: 11112, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HIBADHprovided by HGNC
    Official Full Name
    3-hydroxyisobutyrate dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:4907
    See related
    Ensembl:ENSG00000106049 MIM:608475; AllianceGenome:HGNC:4907
    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
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    Genomic context

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    See HIBADH in Genome Data Viewer
    Location:
    7p15.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27525442..27662883, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27661820..27799261, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (27565061..27702502, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27539095-27539594 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 2 Neighboring gene coiled-coil domain containing 86 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr7:27566627-27567204 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:27604404-27605156 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:27608126-27608313 Neighboring gene uncharacterized LOC107986699 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:27642256-27643016 Neighboring gene MPRA-validated peak6451 silencer Neighboring gene uncharacterized LOC105375211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27702239-27703056 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:27717219-27718418 Neighboring gene Sharpr-MPRA regulatory region 14722 Neighboring gene MPRA-validated peak6452 silencer Neighboring gene testis-expressed, seven-twelve, leukemia Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:27779716-27780578 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:27780579-27781442 Neighboring gene TAX1BP1 antisense RNA 1 Neighboring gene Tax1 binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:27903667-27904167 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:27907318-27908517 Neighboring gene JAZF zinc finger 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25793 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:28021142-28022341 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:28027281-28027840 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:28076521-28077720 Neighboring gene uncharacterized LOC105375208

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Characterization of 3-hydroxyisobutyrate dehydrogenase, HIBADH, as a sperm-motility marker. Tasi YC, et al. J Assist Reprod Genet, 2013 Apr. PMID 23423614, Free PMC Article
    2. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. Loupatty FJ, et al. Mol Genet Metab, 2006 Mar. PMID 16466957
    3. Human liver protein map: update 1993. Hughes GJ, et al. Electrophoresis, 1993 Nov. PMID 8313870
    4. MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination. Witt SH, et al. J Mol Biol, 2005 Jul 22. PMID 15967462
    5. Structural basis for SMAC-mediated antagonism of caspase inhibition by the giant ubiquitin ligase BIRC6. Dietz L, et al. Science, 2023 Mar 17. PMID 36758106

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HIBADH is involved in the mitochondrial function of spermatozoa, and maintains sperm motility. It may serve as a sperm-motility marker.
      Title: Characterization of 3-hydroxyisobutyrate dehydrogenase, HIBADH, as a sperm-motility marker.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    • MGC40361

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-hydroxyisobutyrate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-hydroxyisobutyrate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables NADP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in valine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in valine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    3-hydroxyisobutyrate dehydrogenase, mitochondrial
    Names
    3'-hydroxyisobutyrate dehydrogenase
    epididymis secretory sperm binding protein
    NP_001417678.1
    NP_689953.1
    XP_047275790.1
    XP_047275791.1
    XP_054213141.1

    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_001430749.1 → NP_001417678.1  3-hydroxyisobutyrate dehydrogenase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005091, AC007130

    2. NM_152740.4 → NP_689953.1  3-hydroxyisobutyrate dehydrogenase, mitochondrial isoform 1 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, Q546Z2, Q9UDN3
      UniProtKB/TrEMBL
      A0A024RA75
      Related
      ENSP00000265395.2, ENST00000265395.7
      Conserved Domains (1) summary
      TIGR01692
      Location:44 → 331
      HIBADH; 3-hydroxyisobutyrate dehydrogenase

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      27525442..27662883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419834.1 → XP_047275790.1  3-hydroxyisobutyrate dehydrogenase, mitochondrial isoform X1

    2. XM_047419835.1 → XP_047275791.1  3-hydroxyisobutyrate dehydrogenase, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      27661820..27799261 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357166.1 → XP_054213141.1  3-hydroxyisobutyrate dehydrogenase, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P31937.2 GenPept UniProtKB/Swiss-Prot:P31937

    Gene LinkOut

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