P4HA1 - prolyl 4-hydroxylase subunit alpha 1 Gene

Homo sapiens

Also known as P4HA

Gene ID: 5033 | Gene type: protein coding

About P4HA1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:73,007,217-73,096,866 (from NCBI)

This gene has 6 transcripts (splice variants), 198 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 35.1), liver (RPKM 30.4) and 24 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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

P4HA1 Products(4)

mRNA	Protein	Name
NM_000917.4	NP_000908.2	prolyl 4-hydroxylase subunit alpha-1 isoform 1 precursor
NM_001017962.3	NP_001017962.1	prolyl 4-hydroxylase subunit alpha-1 isoform 2 precursor
NM_001142595.2	NP_001136067.1	prolyl 4-hydroxylase subunit alpha-1 isoform 2 precursor
NM_001142596.2	NP_001136068.1	prolyl 4-hydroxylase subunit alpha-1 isoform 3 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	24207127	GOA
enables procollagen-proline 4-dioxygenase activity	IDA IDA: Inferred from direct assay	9211872	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17500595	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

P4HA1 Protein Structure

P4Ha_N

2OG-FeII_Oxy

0
100
200
300
400
500
534 a.a.

Protein Preferred Names

Protein Names

prolyl 4-hydroxylase subunit alpha-1

C-P4Halpha(I)

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

Ehlers-Danlos Syndrome, Classic Type, 1

Ehlers-Danlos Syndrome, Type I	EDSCL1
Ehlers-Danlos Syndrome Classic Type 1	Ehlers-Danlos Syndrome Type 1
Ehlers-Danlos Syndrome, Type I, Formerly	Eds1, Formerly
Ehlers-Danlos Syndrome, Severe Classic Type, Formerly	Eds I, Formerly
Ehlers-Danlos Syndrome, Gravis Type, Formerly	Ehlers-Danlos Syndrome, Type 1
Type I Ehlers-Danlos Syndrome	Eds1
Eds I	Ehlers-Danlos Syndrome, Gravis Type
Ehlers-Danlos Syndrome, Severe Classic Type	Ehlers-Danlos Syndrome 1
Ehlers-Danlos, Classic Syndrome, Type 1	Ehlers-Danlos Syndrome Type 2

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-RS09942	P4HA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	P4HA1	MGD	MGI:97463
Rattus norvegicus	P4HA1	RGD	RGD:621000
Macaca mulatta	P4HA1	VGNC	VGNC:75741
Felis catus	P4HA1	VGNC	VGNC:68676
Canis familiaris	P4HA1	VGNC	VGNC:44222
Bos taurus	P4HA1	VGNC	VGNC:32535

Name
Email *

	Sorry, but the email address you supplied was invalid.