Cell atlas - PHYH - The Human Protein Atlas

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PHYH

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	PHYH
Gene description	Phytanoyl-CoA 2-hydroxylase
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	5
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Mixed
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	PHYH (HGNC Symbol)
Synonyms	PAHX, PHYH1, RD
Description	Phytanoyl-CoA 2-hydroxylase (HGNC Symbol)
Entrez gene summary	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]
Chromosome	10
Cytoband	p13
Chromosome location (bp)	13277796 - 13302412
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000107537 (version 83.38)
Entrez gene	5264
UniProt	O14832 (UniProt - Evidence at protein level)
neXtProt	NX_O14832
Antibodypedia	PHYH antibodies

PROTEIN BROWSER

PHYH-001	PHYH-002	PHYH-003	PHYH-004	PHYH-005

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PHYH-001 ENSP00000263038 ENST00000263038	O14832 [Direct mapping] Phytanoyl-CoA dioxygenase, peroxisomal Show all	Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001561 [fatty acid alpha-oxidation] GO:0003824 [catalytic activity] GO:0005515 [protein binding] GO:0005739 [mitochondrion] GO:0005777 [peroxisome] GO:0005782 [peroxisomal matrix] GO:0006720 [isoprenoid metabolic process] GO:0031418 [L-ascorbic acid binding] GO:0044255 [cellular lipid metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0048037 [cofactor binding] GO:0048244 [phytanoyl-CoA dioxygenase activity] GO:0097089 [methyl-branched fatty acid metabolic process] Show all	338 aa 38.5 kDa	No	0
PHYH-002 ENSP00000380121 ENST00000396913	O14832 [Direct mapping] Phytanoyl-CoA dioxygenase, peroxisomal Show all	Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001561 [fatty acid alpha-oxidation] GO:0005515 [protein binding] GO:0005777 [peroxisome] GO:0005782 [peroxisomal matrix] GO:0006720 [isoprenoid metabolic process] GO:0031418 [L-ascorbic acid binding] GO:0044255 [cellular lipid metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0048037 [cofactor binding] GO:0048244 [phytanoyl-CoA dioxygenase activity] GO:0097089 [methyl-branched fatty acid metabolic process] Show all	238 aa 27.3 kDa	No	0
PHYH-003 ENSP00000420117 ENST00000479604	C9JR86 [Direct mapping] Phytanoyl-CoA dioxygenase, peroxisomal Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		211 aa 24.1 kDa	No	0
PHYH-004 ENSP00000412525 ENST00000453759	C9IYS5 [Direct mapping] Phytanoyl-CoA dioxygenase, peroxisomal Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		176 aa 20.3 kDa	No	0
PHYH-005 ENSP00000380126 ENST00000396920	B1ALH6 [Direct mapping] Phytanoyl-CoA dioxygenase, peroxisomal Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		321 aa 37 kDa	No	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.