• Gene id: 5264

Gene Summary

• Gene Symbol: PHYH   Gene   UCSC   Ensembl
• Aliases: LN1, LNAP1, PAHX, PHYH1, RD
• Gene name: phytanoyl-CoA 2-hydroxylase
• Alternate names: phytanoyl-CoA dioxygenase, peroxisomal, phytanic acid oxidase, phytanoil-CoA alpha hydroxylase, phytanoyl-CoA 2 oxoglutarate dioxygenase, phytanoyl-CoA alpha-hydroxylase,
• Gene location: 10p13 (13300129: 13277795)     Exons: 10     NC_000010.11
• Gene summary(Entrez): This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have b
• OMIM: 602026

Protein Summary

• Protein general information: O14832  
  • Name: Phytanoyl CoA dioxygenase, peroxisomal (EC 1.14.11.18) (Phytanic acid oxidase) (Phytanoyl CoA alpha hydroxylase) (PhyH)
  • Length: 338  
  • Mass: 38538
  • Tissue specificity: Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle.
• Sequence:

  MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPD
  ADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPN
  IMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKW
  EGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENI
  EKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL

• Structural information:
  • Interpro: IPR008775  
  • PDB: 2A1X
  • PDBsum: 2A1X
  • STRING: ENSP00000263038
• Other Databases: GeneCards:  PHYH  Malacards:  PHYH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001561	fatty acid alpha-oxidation	IBA	biological process
GO:0048244	phytanoyl-CoA dioxygenase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0048244	phytanoyl-CoA dioxygenase activity	IEA	molecular function
GO:0001561	fatty acid alpha-oxidation	TAS	biological process
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0001561	fatty acid alpha-oxidation	IEA	biological process
GO:0048244	phytanoyl-CoA dioxygenase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0001561	fatty acid alpha-oxidation	IEA	biological process
GO:0019606	2-oxobutyrate catabolic process	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0097731	9+0 non-motile cilium	IDA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006103	2-oxoglutarate metabolic process	IDA	biological process
GO:0031406	carboxylic acid binding	IDA	molecular function
GO:0001561	fatty acid alpha-oxidation	IDA	biological process
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0048244	phytanoyl-CoA dioxygenase activity	IDA	molecular function
GO:0048244	phytanoyl-CoA dioxygenase activity	IDA	molecular function
GO:0048244	phytanoyl-CoA dioxygenase activity	IDA	molecular function
GO:0048244	phytanoyl-CoA dioxygenase activity	IDA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0006720	isoprenoid metabolic process	IDA	biological process
GO:0097089	methyl-branched fatty acid metabolic process	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0001561	fatty acid alpha-oxidation	IDA	biological process
GO:0031418	L-ascorbic acid binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Refsum disease	KEGG:H00075
Refsum disease	KEGG:H00075
Orofacial cleft	PMID:27229527
Refsum disease	PMID:10709665
Zellweger syndrome	PMID:8954107
Zellweger syndrome	PMID:10709665
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq