2. Gene
  3. P4HA1 - prolyl 4-hydroxylase subunit alpha 1 Gene

P4HA1 - prolyl 4-hydroxylase subunit alpha 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

P4HA1 Protein Structure

P4Ha_N

P4Ha_N: Prolyl 4-Hydroxylase alpha-subunit, N-terminal region (23 - 156)

2OG-FeII_Oxy

2OG-FeII_Oxy: 2OG-Fe(II) oxygenase superfamily (412 - 518)

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  • 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