P4HA1 - prolyl 4-hydroxylase subunit alpha 1 Gene

Also Known as P4HA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5033

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	References	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)

P4HA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	P4HA1	P13674	CPSF3	Homo sapiens	Q9UKF6	Anti Tag CoIP	33961781
Intra	P4HA1	P13674	P4HA1	Homo sapiens	P13674	SLS	24207127
Intra	P4HA1	P13674	P4HA1	Homo sapiens	P13674	X-Ray Diffraction	24207127
Intra	P4HA1	P13674	P4HA1	Homo sapiens	P13674	SAXS	24207127
Intra	P4HA1	P13674	CPSF6	Homo sapiens	Q16630	Anti Tag CoIP	33961781
Intra	P4HA1	P13674	FIP1L1	Homo sapiens	Q6UN15	Anti Tag CoIP	33961781
Intra	P4HA1	P13674	P4HA1	Homo sapiens	P13674	GMS	24207127
Intra	P4HA1	P13674	HTT	Homo sapiens	P42858	Y2H	17500595

Cross: Cross-species interaction Intra: Intraspecies interaction

P4HA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811259	P4HA1 Antibody	WB, ICC/IF	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-121172	1,4-DPCA	Inhibitor	99.78%	Unkown
HY-RS09942	P4HA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16973	P4ha1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23416	P4ha1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	P4HA1	NCBI