P3H1, prolyl 3-hydroxylase 1

P3H1, prolyl 3-hydroxylase 1

• This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]

• Gene Synonyms (prolyl 3-hydroxylase 1, growth suppressor 1, leprecan, leucine proline-enriched proteoglycan (leprecan) 1, leucine- and proline-enriched proteoglycan 1, procollagen-proline 3-dioxygenase, GROS1, LEPRE1, OI8,)
• NCBI Gene ID: 64175
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q32P28
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

prolyl 3-hydroxylase 1 interacts with:

• developmental pluripotency-associated 3
  egl-9 family hypoxia inducible factor 3
  GON7 subunit of KEOPS complex
  KRAB-A domain containing 1
  leucine rich repeat and sterile alpha motif containing 1
  MIA SH3 domain ER export factor 3
  pseudouridine synthase 1
  serine and arginine-rich splicing factor 1
  SET like protein
  splicing factor 3a, subunit 1
  tectonic family member 1
  tigger transposable element derived 5
  TSC22 domain family member 4
  ubiquinol-cytochrome c reductase complex assembly factor 2
  VPS37D subunit of ESCRT-I
  zinc finger protein 397

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.