• Gene id: 254295

Gene Summary

• Gene Symbol: PHYHD1   Gene   UCSC   Ensembl
• Gene name: phytanoyl-CoA dioxygenase domain containing 1
• Alternate names: phytanoyl-CoA dioxygenase domain-containing protein 1,
• Gene location: 9q34.11 (128920981: 128942040)     Exons: 13     NC_000009.12
• OMIM: 612085

Protein Summary

• Protein general information: Q5SRE7  
  • Name: Phytanoyl CoA dioxygenase domain containing protein 1 (EC 1. . . )
  • Length: 291  
  • Mass: 32411
• Sequence:

  MACLSPSQLQKFQQDGFLVLEGFLSAEECVAMQQRIGEIVAEMDVPLHCRTEFSTQEEEQLRAQGSTDYFLSSGD
  KIRFFFEKGVFDEKGNFLVPPEKSINKIGHALHAHDPVFKSITHSFKVQTLARSLGLQMPVVVQSMYIFKQPHFG
  GEVSPHQDASFLYTEPLGRVLGVWIAVEDATLENGCLWFIPGSHTSGVSRRMVRAPVGSAPGTSFLGSEPARDNS
  LFVPTPVQRGALVLIHGEVVHKSKQNLSDRSRQAYTFHLMEASGTTWSPENWLQPTAELPFPQLYT

• Structural information:
  • Interpro: IPR008775  
  • PDB: 2OPW 3OBZ
  • PDBsum: 2OPW 3OBZ
  • STRING: ENSP00000309515
• Other Databases: GeneCards:  PHYHD1  Malacards:  PHYHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R