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

Gene ID: 11112, updated on 6-Sep-2022

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; 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

See HIBADH in Genome Data Viewer
Location:
7p15.2
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (27525442..27662883, complement)
110 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 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 Sharpr-MPRA regulatory region 14722 Neighboring gene TAX1BP1 antisense RNA 1 Neighboring gene Tax1 binding protein 1

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

Pathways from PubChem

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
enables 3-hydroxyisobutyrate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 
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
PubMed 
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
PubMed 

General protein information

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

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_152740.4NP_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, Q9UDN3
    UniProtKB/TrEMBL
    A0A024RA75
    Related
    ENSP00000265395.2, ENST00000265395.7
    Conserved Domains (1) summary
    TIGR01692
    Location:44331
    HIBADH; 3-hydroxyisobutyrate dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047419834.1XP_047275790.1  3-hydroxyisobutyrate dehydrogenase, mitochondrial isoform X1

  2. XM_047419835.1XP_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)