PHYH

Protein identityUniProt · HPA

UniProt accession

O14832

Gene

PHYH

Ensembl

ENSG00000107537

Chromosome

10

Canonical length

338 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

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 been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

338 residues, UniProt reviewed canonical sequence.

>O14832|PHYH
     1  MEQLRAAARL QIVLGHLGRP SAGAVVAHPT SGTISSASFH PQQFQYTLDN NVLTLEQRKF
    61  YEENGFLVIK NLVPDADIQR FRNEFEKICR KEVKPLGLTV MRDVTISKSE YAPSEKMITK
   121  VQDFQEDKEL FRYCTLPEIL KYVECFTGPN IMAMHTMLIN KPPDSGKKTS RHPLHQDLHY
   181  FPFRPSDLIV CAWTAMEHIS RNNGCLVVLP GTHKGSLKPH DYPKWEGGVN KMFHGIQDYE
   241  ENKARVHLVM EKGDTVFFHP LLIHGSGQNK TQGFRKAISC HFASADCHYI DVKGTSQENI
   301  EKEVVGIAHK FFGAENSVNL KDIWMFRARL VKGERTNL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PHYH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

624 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PHYH.

Disease | AllUniProt

Conditions PHYH is implicated in, by any mechanism.

• Refsum disease (RD) MIM:266500

Disease | GeneticClinVar

71 pathogenic / likely-pathogenic of 533 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Phytanic acid storage disease
• REFSUM DISEASE, ADULT, 1
• Retinal dystrophy
• PHYH-related disorder
• Retinitis pigmentosa

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.12

gnomAD pLI

0

gnomAD missense Z

0.03

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 2-oxoglutarate metabolic process
• fatty acid alpha-oxidation
• isoprenoid metabolic process
• methyl-branched fatty acid metabolic process
• 2-oxobutyrate catabolic process

Molecular functions

• carboxylic acid binding
• ferrous iron binding
• L-ascorbic acid binding
• phytanoyl-CoA dioxygenase activity

Cellular components

• 9+0 non-motile cilium
• cytosol
• peroxisomal matrix
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• Phytanoyl-CoA dioxygenase-like
• Phytanoyl-CoA dioxygenase (PhyH)
• Phytanoyl-CoA dioxygenase

KeywordsUniProt

• Cataract
• Deafness
• Dioxygenase
• Ichthyosis
• Iron
• Metal-binding
• Oxidoreductase
• Peroxisome
• Peroxisome biogenesis disorder
• Phosphoprotein
• Retinitis pigmentosa
• Transit peptide
• Vitamin C

InteractionsUniProt · HPA

Protein binding partners of PHYH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FKBP52
• PHYHIP
• PEX7