PHYHD1 - phytanoyl-CoA dioxygenase domain containing 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 254295

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 Références 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

PhyH: Phytanoyl-CoA dioxygenase (PhyH) (12 - 259)

  • 0
  • 100
  • 200
  • 291 a.a.
Protein Preferred Names Protein Names

phytanoyl-CoA dioxygenase domain-containing protein 1

PHYHD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
PHYHD1 Q5SRE7 POT1 Homo sapiens Q9NUX5
BiFC
21044950
Intra
PHYHD1 Q5SRE7 POT1 Homo sapiens Q9NUX5
Pull Down
21044950
Cross: Cross-species interaction Intra: Intraspecies interaction

PHYHD1 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P86268 PHYHD1 Antibody (YA5960) WB, ICC/IF, FC Human

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS10458 PHYHD1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others PHYHD1 NCBI