P3H3 - prolyl 3-hydroxylase 3 Gene

Homo sapiens

Also known as GRCB; LEPREL2; HSU47926

Gene ID: 10536 | Gene type: protein coding

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

P3H3 Protein Structure

2OG-FeII_Oxy_3

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09940	P3H3 Human Pre-designed siRNA Set A		/	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