• Gene id: 9796

Gene Summary

• Gene Symbol: PHYHIP   Gene   UCSC   Ensembl
• Aliases: DYRK1AP3, PAHX-AP, PAHXAP1
• Gene name: phytanoyl-CoA 2-hydroxylase interacting protein
• Alternate names: phytanoyl-CoA hydroxylase-interacting protein, DYRK1A interacting protein 3, PAHX-AP1, phytanoyl-CoA alpha-hydroxylase associated protein, phytanoyl-CoA hydroxylase-associated protein 1,
• Gene location: 8p21.3 (22232351: 22219702)     Exons: 8     NC_000008.11
• OMIM: 176873

Protein Summary

• Protein general information: Q92561  
  • Name: Phytanoyl CoA hydroxylase interacting protein (Phytanoyl CoA hydroxylase associated protein 1) (PAHX AP1) (PAHXAP1)
  • Length: 330  
  • Mass: 37573
  • Tissue specificity: Highly expressed in the brain. {ECO
• Sequence:

  MELLSTPHSIEINNITCDSFRISWAMEDSDLERVTHYFIDLNKKENKNSNKFKHRDVPTKLVAKAVPLPMTVRGH
  WFLSPRTEYSVAVQTAVKQSDGEYLVSGWSETVEFCTGDYAKEHLAQLQEKAEQIAGRMLRFSVFYRNHHKEYFQ
  HARTHCGNMLQPYLKDNSGSHGSPTSGMLHGVFFSCNTEFNTGQPPQDSPYGRWRFQIPAQRLFNPSTNLYFADF
  YCMYTAYHYAILVLAPKGSLGDRFCRDRLPLLDIACNKFLTCSVEDGELVFRHAQDLILEIIYTEPVDLSLGTLG
  EISGHQLMSLSTADAKKDPSCKTCNISVGR

• Structural information:
  • Protein Domains: (6..11-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR003961  IPR036116  IPR013783  IPR042868  
  • Prosite: PS50853
  • CDD: cd00063
  • STRING: ENSP00000415491
• Other Databases: GeneCards:  PHYHIP  Malacards:  PHYHIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0008104	protein localization	IDA	biological process
GO:1990782	protein tyrosine kinase binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq