• Gene id: 137872

Gene Summary

• Gene Symbol: ADHFE1   Gene   UCSC   Ensembl
• Aliases: ADH8, HMFT2263, HOT
• Gene name: alcohol dehydrogenase iron containing 1
• Alternate names: hydroxyacid-oxoacid transhydrogenase, mitochondrial, Fe-containing alcohol dehydrogenase 1, alcohol dehydrogenase 8, alcohol dehydrogenase iron-containing protein 1,
• Gene location: 8q13.1 (66432503: 66468906)     Exons: 14     NC_000008.11
• Gene summary(Entrez): The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
• OMIM: 616774

Protein Summary

• Protein general information: Q8IWW8  
  • Name: Hydroxyacid oxoacid transhydrogenase, mitochondrial (HOT) (EC 1.1.99.24) (Alcohol dehydrogenase iron containing protein 1) (ADHFe1) (Fe containing alcohol dehydrogenase)
  • Length: 467  
  • Mass: 50308
  • Tissue specificity: Only expressed in adult liver. {ECO
• Sequence:

  MAAAARARVAYLLRQLQRAACQCPTHSHTYSQAPGLSPSGKTTDYAFEMAVSNIRYGAAVTKEVGMDLKNMGAKN
  VCLMTDKNLSKLPPVQVAMDSLVKNGIPFTVYDNVRVEPTDSSFMEAIEFAQKGAFDAYVAVGGGSTMDTCKAAN
  LYASSPHSDFLDYVSAPIGKGKPVSVPLKPLIAVPTTSGTGSETTGVAIFDYEHLKVKIGITSRAIKPTLGLIDP
  LHTLHMPARVVANSGFDVLCHALESYTTLPYHLRSPCPSNPITRPAYQGSNPISDIWAIHALRIVAKYLKRAVRN
  PDDLEARSHMHLASAFAGIGFGNAGVHLCHGMSYPISGLVKMYKAKDYNVDHPLVPHGLSVVLTSPAVFTFTAQM
  FPERHLEMAEILGADTRTARIQDAGLVLADTLRKFLFDLDVDDGLAAVGYSKADIPALVKGTLPQERVTKLAPCP
  QSEEDLAALFEASMKLY

• Structural information:
  • Interpro: IPR001670  IPR039697  
  • STRING: ENSP00000379865
• Other Databases: GeneCards:  ADHFE1  Malacards:  ADHFE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0004022	alcohol dehydrogenase (NAD+) activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0047988	hydroxyacid-oxoacid transhydrogenase activity	IEA	molecular function
GO:0047988	hydroxyacid-oxoacid transhydrogenase activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006103	2-oxoglutarate metabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0047988	hydroxyacid-oxoacid transhydrogenase activity	IDA	molecular function
GO:0006539	glutamate catabolic process via 2-oxoglutarate	IDA	biological process
GO:0005739	mitochondrion	ISS	cellular component

Diseases

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

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