• Gene id: 622

Gene Summary

• Gene Symbol: BDH1   Gene   UCSC   Ensembl
• Aliases: BDH, SDR9C1
• Gene name: 3-hydroxybutyrate dehydrogenase 1
• Alternate names: D-beta-hydroxybutyrate dehydrogenase, mitochondrial, (R)-3-hydroxybutyrate dehydrogenase, 3-hydroxybutyrate dehydrogenase (heart, mitochondrial), 3-hydroxybutyrate dehydrogenase, type 1, epididymis secretory sperm binding protein, short chain dehydrogenase/red,
• Gene location: 3q29 (197573322: 197509782)     Exons: 19     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic
• OMIM: 604584

Protein Summary

• Protein general information: Q02338  
  • Name: D beta hydroxybutyrate dehydrogenase, mitochondrial (EC 1.1.1.30) (3 hydroxybutyrate dehydrogenase) (BDH) (Short chain dehydrogenase/reductase family 9C member 1)
  • Length: 343  
  • Mass: 38157
• Sequence:

  MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLVTGCDSGFGFSLAKHL
  HSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEVEKVVEIVRSSLKDPEKGMWGLVNNAGISTF
  GEVEFTSLETYKQVAEVNLWGTVRMTKSFLPLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYE
  MYPLGVKVSVVEPGNFIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVID
  AVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • STRING: ENSP00000376184
• Other Databases: GeneCards:  BDH1  Malacards:  BDH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099617	matrix side of mitochondrial inner membrane	ISS	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0003858	3-hydroxybutyrate dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0046952	ketone body catabolic process	TAS	biological process
GO:0046951	ketone body biosynthetic process	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003858	3-hydroxybutyrate dehydrogenase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00650	Butanoate metabolism
hsa00072	Synthesis and degradation of ketone bodies

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray