P3H3 - prolyl 3-hydroxylase 3 Gene

Also Known as GRCB; LEPREL2; HSU47926

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10536

About P3H3

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,828,407-6,839,847 (from NCBI)

This gene has 11 transcripts (splice variants), 197 orthologues and 2 paralogues. Ubiquitous expression in endometrium (RPKM 14.9), ovary (RPKM 11.4) and 23 other tissues.

Summary

The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as Collagen prolyl hydroxylases that are required for proper Collagen biosynthesis, folding and assembly. This protein, like Other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and Other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]

P3H3 Products (1)

mRNA Protein Name
NM_014262.5 NP_055077.2 prolyl 3-hydroxylase 3 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of cell population proliferation IDA
IDA: Inferred from direct assay
19436308 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

P3H3 Protein Structure

2OG-FeII_Oxy_3

2OG-FeII_Oxy_3: 2OG-Fe(II) oxygenase superfamily (396 - 488)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 551 a.a.
Protein Preferred Names Protein Names

prolyl 3-hydroxylase 3

  • gene rich cluster, B

Related Diseases

Diseases Alias
Epilepsy, Idiopathic Generalized 7

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 7

  • EIG7

  • Idiopathic Generalized Epilepsy 7

  • Epilepsy, Juvenile Myoclonic
Amyotrophic Lateral Sclerosis 8

  • Amyotrophic Lateral Sclerosis Type 8

  • ALS8

  • Sclerosis, Lateral, Amyotrophic, Type Type 8
Febrile Seizures, Familial, 1

  • FEB1

  • Convulsions, Familial Febrile, 1

  • Familial Febrile Seizures 1

  • Familial Febrile Convulsions 1
Amyotrophic Lateral Sclerosis Type 6

  • Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

  • Als6

  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

  • Autosomal Recessive Amyotrophic Lateral Sclerosis 6

  • Sclerosis, Lateral, Amyotrophic, Type Type 6

  • Amyotrophic Lateral Sclerosis 6
Inflammatory Bowel Disease 14

  • IBD14

  • Inflammatory Bowel Disease 14, Susceptibility To

  • Bowel Disease, Inflammatory, Type 14
Amyloidosis, Primary Localized Cutaneous, 3

  • Amyloidosis Cutis Dyschromica

  • PLCA3

  • Acd

  • Primary Localized Cutaneous Amyloidosis 3

  • Amyloidosis Cutis Dyschromia
Amyotrophic Lateral Sclerosis 11

  • Amyotrophic Lateral Sclerosis Type 11

  • ALS11

  • Sclerosis, Lateral, Amyotrophic, Type Type 11
Ehlers-Danlos Syndrome

  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia

  • Amyotrophic Lateral Sclerosis Type 10

  • ALS10

  • Amyotrophic Lateral Sclerosis 10, With Or Without Ftd

  • Frontotemporal Lobar Degeneration, Tardbp-Related

  • Amyotrophic Lateral Sclerosis 10

  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia

  • Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions

  • Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions

  • Sclerosis, Lateral, Amyotrophic, Type Type 10
Amyotrophic Lateral Sclerosis 4, Juvenile

  • Amyotrophic Lateral Sclerosis Type 4

  • ALS4

  • Amyotrophic Lateral Sclerosis 4

  • Dhmn With Upper Motor Neuron Signs

  • Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs

  • Neuronopathy, Distal Hereditary Motor, With Pyramidal Features

  • Als 4

  • Distal Hereditary Motor Neuropathy With Pyramidal Features

  • Amyotrophic Lateral Sclerosis Juvenile 4

  • Neuronopathy Distal Hereditary Motor With Pyramidal Features

  • Sclerosis, Lateral, Amyotrophic, Type Type 4
Amyotrophic Lateral Sclerosis 1

  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis
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 (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS16283 FAM-labeled P3H3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS09940 P3H3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus P3H3 RGD RGD:1305699
Macaca mulatta P3H3 VGNC VGNC:75650
Canis familiaris P3H3 VGNC VGNC:44221
Mus musculus P3H3 MGD MGI:1315208
Bos taurus P3H3 VGNC VGNC:32534
Felis catus P3H3 VGNC VGNC:64015
Others P3H3 NCBI