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P4HA1

From Wikipedia, the free encyclopedia

P4HA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesP4HA1, P4HA, prolyl 4-hydroxylase subunit alpha 1
External IDsOMIM: 176710; MGI: 97463; HomoloGene: 30998; GeneCards: P4HA1; OMA:P4HA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001142596
NM_000917
NM_001017962
NM_001142595

NM_011030
NM_001316370
NM_001316371

RefSeq (protein)

NP_000908
NP_001017962
NP_001136067
NP_001136068

NP_001303299
NP_001303300
NP_035160

Location (UCSC)Chr 10: 73.01 – 73.1 MbChr 10: 59.16 – 59.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Prolyl 4-hydroxylase subunit alpha-1 is an enzyme that in humans is encoded by the P4HA1 gene.[5][6]

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.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000122884Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019916Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Pajunen L, Jones TA, Helaakoski T, Pihlajaniemi T, Solomon E, Sheer D, Kivirikko KI (Jan 1990). "Assignment of the gene coding for the alpha-subunit of prolyl 4-hydroxylase to human chromosome region 10q21.3-23.1". Am J Hum Genet. 45 (6): 829–34. PMC 1683466. PMID 2556027.
  6. ^ a b "Entrez Gene: P4HA1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I".

Further reading

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