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

Gene ID: 11112, updated on 7-Dec-2018

Summary

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

Genomic context

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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
NADP 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 
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
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
3-hydroxyisobutyrate dehydrogenase, mitochondrial
Names
3'-hydroxyisobutyrate dehydrogenase
epididymis secretory sperm binding protein
NP_689953.1
XP_016867208.1

NCBI Reference Sequences (RefSeq)

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_152740.4NP_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, ENST00000265395.6
    Conserved Domains (1) summary
    TIGR01692
    Location:44331
    HIBADH; 3-hydroxyisobutyrate dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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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