2. Gene
  3. P4HA3 - prolyl 4-hydroxylase subunit alpha 3 Gene

P4HA3 - prolyl 4-hydroxylase subunit alpha 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

P4HA3 Protein Structure

P4Ha_N

P4Ha_N: Prolyl 4-Hydroxylase alpha-subunit, N-terminal region (32 - 161)

2OG-FeII_Oxy

2OG-FeII_Oxy: 2OG-Fe(II) oxygenase superfamily (423 - 528)

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  • 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