PHYHD1 - phytanoyl-CoA dioxygenase domain containing 1 Gene

Homo sapiens

Gene ID: 254295 | Gene type: protein coding

About PHYHD1

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,920,982-128,942,041 (from NCBI)

This gene has 13 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in kidney (RPKM 11.6), thyroid (RPKM 9.8) and 23 other tissues.

Summary

Enables 2-oxoglutarate-dependent dioxygenase activity. [provided by Alliance of Genome Resources, Apr 2022]

PHYHD1 Products(3)

mRNA	Protein	Name
NM_001100876.2	NP_001094346.1	phytanoyl-CoA dioxygenase domain-containing protein 1 isoform a
NM_001100877.1	NP_001094347.1	phytanoyl-CoA dioxygenase domain-containing protein 1 isoform c
NM_174933.4	NP_777593.2	phytanoyl-CoA dioxygenase domain-containing protein 1 isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables 2-oxoglutarate-dependent dioxygenase activity	IDA IDA: Inferred from direct assay	21530488	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PHYHD1 Protein Structure

PhyH

0
100
200
291 a.a.

Protein Preferred Names

Protein Names

phytanoyl-CoA dioxygenase domain-containing protein 1

Related Diseases

Diseases

Alias

Three M Syndrome 1

3-M Syndrome	Yakut Short Stature Syndrome
3m Syndrome	Le Merrer Syndrome
Dolichospondylic Dysplasia	Gloomy Face Syndrome
Three M Syndrome	3M1
3m Syndrome 1	Miller-Mckusick-Malvaux Syndrome
3-Msbn	Three-M Slender-Boned Nanism
Miller-Mckusick-Malvaux-Syndrome	3-M Syndrome 1
3m Syndrome-1	3m Syndrome, Type 1
Dwarfism	Dwarfism Tall Vertebrae

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10458	PHYHD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PHYHD1	VGNC	VGNC:102963
Canis familiaris	PHYHD1	VGNC	VGNC:55716
Macaca mulatta	PHYHD1	VGNC	VGNC:75852
Mus musculus	PHYHD1	MGD	MGI:3612860
Rattus norvegicus	PHYHD1	RGD	RGD:1310377

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