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

Gene ID: 11112, updated on 7-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27525442..27662883, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (27661820..27799261, complement)
105.20220307 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
  • 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. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. Wheeler HE, et al. PLoS Genet, 2009 Oct. PMID 19834535, Free PMC Article

See all (31) 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
  
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_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_152740.4 → NP_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, 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_2023_10

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

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

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