Gene: Phyh

Basic information

Tag Content
Uniprot ID O35386; O08527;
Entrez ID 16922
Genbank protein ID BAA19003.1; AAH02018.1; AAB81835.1;
Genbank nucleotide ID NM_010726.2
Ensembl protein ID ENSMUSP00000027975
Ensembl nucleotide ID ENSMUSG00000026664
Gene name Phytanoyl-CoA dioxygenase, peroxisomal
Gene symbol Phyh
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (By similarity). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl-and 4-methyl-branched acyl-CoAs (By similarity).
Sequence
MNLTRAGARL QVLLGHLGRP SAPTIVAQPV SGLASPASFQ PEQFQYTLDN NVLTLEQRKF 60
YEENGFLVIK NLVSDDDIQR FRAEFERICR EEVKPPGIVI MRDVALAKQD YMPSDRMVSK 120
IQDFQEDEEL FRYCLLPEIL KYVECFTGPN IMALHGMLIN KPPDVGKKTS RHPLHQDLHY 180
FPFRPSNLIV CAWTAMEHID RNNGCLVVLP GTHKGTLKPH DYPKWEGGVN KMYHGIQDYD 240
PNSPRVHLVM EKGDTVFFHP LLIHGSGRNK TQGFRKAISC HFGSSDCQCI DVSGTSQENI 300
AREVVEMAEK KYGFQGVMDF KDTWIFRSRL VKGERINI 338

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPHYH281400O18778Bos taurusPredictionMore>>
1:1 orthologPHYH102179212A0A452FPA5Capra hircusPredictionMore>>
1:1 orthologPHYH5264O14832Homo sapiensPublicationMore>>
1:1 orthologPhyh16922O35386Mus musculusPredictionMore>>
1:1 orthologPHYH450310H2Q1M5Pan troglodytesPredictionMore>>
1:1 orthologPHYHA0A286ZZ49Sus scrofaPredictionMore>>
1:1 orthologPhyh114209P57093Rattus norvegicusPredictionMore>>
1:1 orthologphyhE7FCS1Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
PHYHrs145404396G>C; p.Arg82GlyWES and Sanger sequencing27229527
PHYHrs62619919C>T; p.Arg245GlnWES and Sanger sequencing27229527
PHYHrs566116760A>AG/AT; p.Asn337_Leu338insHis WES and Sanger sequencing27229527

Other genetic variants/mutations

loading...

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003824 catalytic activityIDA
GO:0005515 protein bindingIPI
GO:0008198 ferrous iron bindingISO
GO:0031406 carboxylic acid bindingISO
GO:0031418 L-ascorbic acid bindingIEA
GO:0048037 cofactor bindingISO
GO:0048244 phytanoyl-CoA dioxygenase activityISO
GO:0048244 phytanoyl-CoA dioxygenase activityIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0001561 fatty acid alpha-oxidationISO
GO:0001561 fatty acid alpha-oxidationIDA
GO:0001561 fatty acid alpha-oxidationIBA
GO:0006103 2-oxoglutarate metabolic processISO
GO:0006720 isoprenoid metabolic processISO
GO:0019606 2-oxobutyrate catabolic processISO
GO:0097089 methyl-branched fatty acid metabolic processISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005739 mitochondrionISO
GO:0005739 mitochondrionHDA
GO:0005777 peroxisomeISO
GO:0005777 peroxisomeTAS
GO:0005782 peroxisomal matrixTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-389599 Alpha-oxidation of phytanateIEA
R-MMU-390918 Peroxisomal lipid metabolismIEA
R-MMU-556833 Metabolism of lipidsIEA
R-MMU-8978868 Fatty acid metabolismIEA
R-MMU-9033241 Peroxisomal protein importIEA
R-MMU-9609507 Protein localizationIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0223 Dioxygenase
KW-0408 Iron
KW-0479 Metal-binding
KW-0560 Oxidoreductase
KW-0576 Peroxisome
KW-1185 Reference proteome
KW-0809 Transit peptide
KW-0847 Vitamin C

Interpro

InterPro ID InterPro Term
IPR008775 Phytyl_CoA_dOase

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF05721 PhyH

Protein-protein interaction

Protein-miRNA interaction