P4HA2

Prolyl 4-hydroxylase subunit alpha-2 is an enzyme that in humans is encoded by the P4HA2 gene.[5][6][7]

P4HA2
Identifiers
AliasesP4HA2, prolyl 4-hydroxylase subunit alpha 2, MYP25, lncRNA-PE
External IDsOMIM: 600608 MGI: 894286 HomoloGene: 55806 GeneCards: P4HA2
Orthologs
SpeciesHumanMouse
Entrez

8974

18452

Ensembl

ENSG00000072682

ENSMUSG00000018906

UniProt

O15460

Q60716

RefSeq (mRNA)

NM_001136076
NM_011031

RefSeq (protein)

NP_001129548
NP_035161

Location (UCSC)Chr 5: 132.19 – 132.3 MbChr 11: 53.99 – 54.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

References

Notes

  1. GRCh38: Ensembl release 89: ENSG00000072682 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000018906 - Ensembl, 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. Annunen P, Helaakoski T, Myllyharju J, Veijola J, Pihlajaniemi T, Kivirikko KI (Aug 1997). "Cloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer. The alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramer". J Biol Chem. 272 (28): 17342–8. doi:10.1074/jbc.272.28.17342. PMID 9211872.
  6. Frazer KA, Ueda Y, Zhu Y, Gifford VR, Garofalo MR, Mohandas N, Martin CH, Palazzolo MJ, Cheng JF, Rubin EM (Aug 1997). "Computational and biological analysis of 680 kb of DNA sequence from the human 5q31 cytokine gene cluster region". Genome Res. 7 (5): 495–512. doi:10.1101/gr.7.5.495. PMID 9149945.
  7. "Entrez Gene: P4HA2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II".

Further reading


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