Tissue expression of PHYH - Summary - The Human Protein Atlas

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PHYH

TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Ubiquitous cytoplasmic expression.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data.
Reliability score	Approved based on 2 antibodies. HPA007598 , HPA011796
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

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

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The Human Protein Atlas

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