P4HA2

P4HA2
Identifiers
Aliases	P4HA2 , prolyl 4-hydroxylase subunit alpha 2, MYP25, lncRNA-PE
External IDs	OMIM: 600608; MGI: 894286; HomoloGene: 55806; GeneCards: P4HA2; OMA:P4HA2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.1 Start 132,190,147 bp [1] End 132,295,315 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 B1.3|11 32.13 cM Start 53,990,921 bp [2] End 54,022,491 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium tibia body of pancreas islet of Langerhans bronchial epithelial cell cartilage tissue apex of heart smooth muscle tissue right auricle of heart corpus epididymis Top expressed in molar calvaria epithelium of lens umbilical cord gastrula body of femur stroma of bone marrow right lung lobe otic placode muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function iron ion binding electron transfer activity L-ascorbic acid binding oxidoreductase activity protein binding oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen dioxygenase activity procollagen-proline 4-dioxygenase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen metal ion binding Cellular component endoplasmic reticulum intracellular membrane-bounded organelle endoplasmic reticulum lumen nucleoplasm cytosol Biological process peptidyl-proline hydroxylation electron transport chain peptidyl-proline hydroxylation to 4-hydroxy-L-proline Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8974 18452 Ensembl ENSG00000072682 ENSMUSG00000018906 UniProt O15460 Q60716 RefSeq (mRNA) NM_001017974 NM_001142598 NM_001142599 NM_004199 NM_001365677 NM_001365678 NM_001365679 NM_001365680 NM_001365681 NM_001136076 NM_011031 RefSeq (protein) NP_001017974 NP_001136070 NP_001136071 NP_004190 NP_001352606 NP_001352607 NP_001352608 NP_001352609 NP_001352610 NP_001129548 NP_035161 Location (UCSC) Chr 5: 132.19 – 132.3 Mb Chr 11: 53.99 – 54.02 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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

• Helaakoski T, Annunen P, Vuori K, et al. (1995). "Cloning, baculovirus expression, and characterization of a second mouse prolyl 4-hydroxylase alpha-subunit isoform: formation of an alpha 2 beta 2 tetramer with the protein disulfide-isomerase/beta subunit". Proc. Natl. Acad. Sci. U.S.A. 92 (10): 4427–31. Bibcode:1995PNAS...92.4427H. doi: 10.1073/pnas.92.10.4427 . PMC   41957 . PMID   7753822.
• Nokelainen M, Nissi R, Kukkola L, et al. (2001). "Characterization of the human and mouse genes for the alpha subunit of type II prolyl 4-hydroxylase. Identification of a previously unknown alternatively spliced exon and its expression in various tissues". Eur. J. Biochem. 268 (20): 5300–9. doi: 10.1046/j.0014-2956.2001.02464.x . PMID   11606192.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Hieta R, Kukkola L, Permi P, et al. (2003). "The peptide-substrate-binding domain of human collagen prolyl 4-hydroxylases. Backbone assignments, secondary structure, and binding of proline-rich peptides". J. Biol. Chem. 278 (37): 34966–74. doi: 10.1074/jbc.M303624200 . PMID   12824157.
• Kukkola L, Hieta R, Kivirikko KI, Myllyharju J (2004). "Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme". J. Biol. Chem. 278 (48): 47685–93. doi: 10.1074/jbc.M306806200 . PMID   14500733.
• Lehner B, Semple JI, Brown SE, et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID   14667819.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Grimmer C, Balbus N, Lang U, et al. (2006). "Regulation of Type II Collagen Synthesis during Osteoarthritis by Prolyl-4-Hydroxylases : Possible Influence of Low Oxygen Levels". Am. J. Pathol. 169 (2): 491–502. doi:10.2353/ajpath.2006.050738. PMC   1698781 . PMID   16877351.
• Koivunen P, Hirsilä M, Kivirikko KI, Myllyharju J (2006). "The length of peptide substrates has a marked effect on hydroxylation by the hypoxia-inducible factor prolyl 4-hydroxylases". J. Biol. Chem. 281 (39): 28712–20. doi: 10.1074/jbc.M604628200 . PMID   16885164.
• Teodoro JG, Parker AE, Zhu X, Green MR (2006). "p53-mediated inhibition of angiogenesis through up-regulation of a collagen prolyl hydroxylase". Science. 313 (5789): 968–71. Bibcode:2006Sci...313..968T. doi:10.1126/science.1126391. PMID   16917063. S2CID   34727093.