P4HA3 - prolyl 4-hydroxylase subunit alpha 3 Gene

Homo sapiens

Gene ID: 283208 | Gene type: protein coding

About P4HA3

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:74,250,146-74,311,640 (from NCBI)

This gene has 7 transcripts (splice variants), 232 orthologues and 3 paralogues. Biased expression in urinary bladder (RPKM 3.9), gall bladder (RPKM 3.2) and 13 other tissues.

Summary

This gene encodes a component of prolyl 4-hydroxylase, a key Enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active Enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

P4HA3 Products(2)

mRNA	Protein	Name
NM_001288748.2	NP_001275677.1	prolyl 4-hydroxylase subunit alpha-3 isoform 2 precursor
NM_182904.5	NP_878907.1	prolyl 4-hydroxylase subunit alpha-3 isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

P4HA3 Protein Structure

P4Ha_N

2OG-FeII_Oxy

0
100
200
300
400
500
544 a.a.

Protein Preferred Names

Protein Names

prolyl 4-hydroxylase subunit alpha-3

4-PH alpha-3

Related Diseases

Diseases

Alias

Osteogenesis Imperfecta, Type Viii

Osteogenesis Imperfecta Type 8	OI8
Osteogenesis Imperfecta Type Viii	Oi Type Viii
Oi, Type Viii	Osteogenesis Imperfecta 8
Oi-Viii

Hypoascorbemia

Scurvy	Ascorbic Acid Deficiency
Vitamin C Deficiency	Vitamin C, Inability To Synthesize
Deficiency Of Vitamin C	Scorbutus
Vitamin C

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-121172	1,4-DPCA	Inhibitor	98.49%	Unkown
HY-RS09944	P4HA3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	P4HA3	VGNC	VGNC:75705
Mus musculus	P4HA3	MGD	MGI:2444049
Bos taurus	P4HA3	VGNC	VGNC:32537
Canis familiaris	P4HA3	VGNC	VGNC:44224
Rattus norvegicus	P4HA3	RGD	RGD:735150
Felis catus	P4HA3	VGNC	VGNC:64016

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