• Gene id: 11112

Gene Summary

• Gene Symbol: HIBADH   Gene   UCSC   Ensembl
• Aliases: NS5ATP1
• Gene name: 3-hydroxyisobutyrate dehydrogenase
• Alternate names: 3-hydroxyisobutyrate dehydrogenase, mitochondrial, 3'-hydroxyisobutyrate dehydrogenase,
• Gene location: 7p15.2 (27663000: 27525439)     Exons: 9     NC_000007.14
• Gene summary(Entrez): 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, N
• OMIM: 608475

Protein Summary

• Protein general information: P31937  
  • Name: 3 hydroxyisobutyrate dehydrogenase, mitochondrial (HIBADH) (EC 1.1.1.31)
  • Length: 336  
  • Mass: 35,329
• Sequence:

  MAASLRLLGAASGLRYWSRRLRPAAGSFAAVCSRSVASKTPVGFIGLGNMGNPMAKNLMKHGYPLIIYDVFPDAC
  KEFQDAGEQVVSSPADVAEKADRIITMLPTSINAIEAYSGANGILKKVKKGSLLIDSSTIDPAVSKELAKEVEKM
  GAVFMDAPVSGGVGAARSGNLTFMVGGVEDEFAAAQELLGCMGSNVVYCGAVGTGQAAKICNNMLLAISMIGTAE
  AMNLGIRLGLDPKLLAKILNMSSGRCWSSDTYNPVPGVMDGVPSANNYQGGFGTTLMAKDLGLAQDSATSTKSPI
  LLGSLAHQIYRMMCAKGYSKKDFSSVFQFLREEETF

• Structural information:
  • Interpro: IPR002204  IPR008927  IPR013328  IPR006115  IPR011548   IPR015815  IPR036291  IPR029154  
  • Prosite: PS00895
  • PDB: 2GF2 2I9P
  • PDBsum: 2GF2 2I9P
  • STRING: ENSP00000265395
• Other Databases: GeneCards:  HIBADH  Malacards:  HIBADH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004616	phosphogluconate dehydrogenase (decarboxylating) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006574	valine catabolic process	IEA	biological process
GO:0006574	valine catabolic process	IDA	biological process
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	IDA	molecular function
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	TAS	molecular function
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	TAS	molecular function
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0051287	NAD binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004616	phosphogluconate dehydrogenase (decarboxylating) activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006574	valine catabolic process	IEA	biological process
GO:0006574	valine catabolic process	IDA	biological process
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	IEA	molecular function
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	IEA	molecular function
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	IDA	molecular function
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	TAS	molecular function
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	TAS	molecular function
GO:0009083	branched-chain amino acid catabolic process	IEA	biological process
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006574	valine catabolic process	IDA	biological process
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	IDA	molecular function
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	TAS	molecular function
GO:0008442	3-hydroxyisobutyrate dehydrogenase activity	TAS	molecular function
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Kidney diseases	GAD: 17903292
Sperm motility	MIK: 23423614
Male factor infertility	MIK: 23423614
Sperm motility	MIK: 23423614
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23423614	Sperm motility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)