HIBADH (3-hydroxyisobutyrate dehydrogenase)

2014-11-01  

Identity

HGNC
LOCATION
7p15.2
LOCUSID
ALIAS
NS5ATP1
FUSION GENES

Other Information

Locus ID:

NCBI: 11112
MIM: 608475
HGNC: 4907
Ensembl: ENSG00000106049

Variants:

dbSNP: 11112
ClinVar: 11112
TCGA: ENSG00000106049
COSMIC: HIBADH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106049ENST00000265395P31937
ENSG00000106049ENST00000265395A0A024RA75
ENSG00000106049ENST00000425715H7BZL2
ENSG00000106049ENST00000428288F8WET2

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
234236142013Characterization of 3-hydroxyisobutyrate dehydrogenase, HIBADH, as a sperm-motility marker.11
234236142013Characterization of 3-hydroxyisobutyrate dehydrogenase, HIBADH, as a sperm-motility marker.11
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.29
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.29

Citation

Dessen P

HIBADH (3-hydroxyisobutyrate dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64262/js/welcome