P4HTM - prolyl 4-hydroxylase, transmembrane Gene

Also Known as PH4; PH-4; PHD4; EGLN4; HIDEA; HIFPH4; P4H-TM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54681

About P4HTM

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,989,908-49,007,153 (from NCBI)

This gene has 12 transcripts (splice variants), 296 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 16.9), adrenal (RPKM 14.4) and 25 other tissues.

Summary

The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

P4HTM Products (2)

mRNA Protein Name
NM_177938.2 NP_808807.2 transmembrane prolyl 4-hydroxylase isoform c
NM_177939.3 NP_808808.1 transmembrane prolyl 4-hydroxylase isoform a

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables 2-oxoglutarate-dependent dioxygenase activity IDA
IDA: Inferred from direct assay
22955912 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

P4HTM Protein Structure

EF-hand_5

EF-hand_5: EF hand (235 - 251)

2OG-FeII_Oxy_3

2OG-FeII_Oxy_3: 2OG-Fe(II) oxygenase superfamily (315 - 458)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 502 a.a.
Protein Preferred Names Protein Names

transmembrane prolyl 4-hydroxylase

  • HIF-PH4

P4HTM Antibodies

Cat. No. Product Name Application Reactivity
HY-P83230 HIF Prolyl Hydroxylases Antibody (YA2975) WB, IHC-P, IP Human
HY-P83230A HIF Prolyl Hydroxylases Antibody (YA2975)(PBS only) WB, IHC-P, IP Human

Related Diseases

Diseases Alias
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities

  • HIDEA

  • Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Dysautonomia
Hypotonia
Central Sleep Apnea

  • Central Sleep Apnea Syndrome

  • Sleep Apnea, Central

  • Primary Central Sleep Apnea

  • Central Sleep Apnea, Primary

  • Central Sleep Apnoea Syndrome

  • Csa - [Central Sleep Apnoea]

  • Csas - [Central Sleep Apnoea Syndrome]

  • Central Sleep Apnoea Due To Substances Including Medications
Spherocytosis, Type 3

  • Hereditary Spherocytosis Type 3

  • SPH3

  • Hs3

  • Spherocytosis, Hereditary, 3

  • Hereditary Spherocytosis 3

  • Spherocytosis 3
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Kabuki Syndrome 1

  • Kabuki Syndrome

  • Niikawa-Kuroki Syndrome

  • Kabuki Make-Up Syndrome

  • Kms

  • KABUK1

  • Kabuki Make Up Syndrome

  • Nks

  • Kabuki Makeup Syndrome

  • Kabuki Syndrome, Type 1
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. Product Name
Effect
Purity
Rare Diseases
HY-RS09946 P4HTM Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus P4HTM VGNC VGNC:64017
Mus musculus P4HTM MGD MGI:1921693
Bos taurus P4HTM VGNC VGNC:32539
Rattus norvegicus P4HTM RGD RGD:1311848
Canis familiaris P4HTM VGNC VGNC:44226
Macaca mulatta P4HTM VGNC VGNC:75693
Others P4HTM NCBI