P4HA1

Protein-coding gene in the species Homo sapiens

P4HA1

| Available structures

PDB| Ortholog search: PDBe RCSB
| List of PDB id codes

1TJC, 2V5F, 2YQ8, 4BT8, 4BT9, 4BTA, 4BTB

Identifiers
Aliases| P4HA1, P4HA, prolyl 4-hydroxylase subunit alpha 1
External IDs| OMIM: 176710 MGI: 97463 HomoloGene: 30998 GeneCards: P4HA1
| Gene location (Human)

Chr.| Chromosome 10 (human)[1]

Band| 10q22.1| Start| 73,007,217 bp[1]
End| 73,096,974 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 10 (mouse)[2]

Band| 10|10 B4| Start| 59,159,118 bp[2]
End| 59,209,126 bp[2]
| RNA expression pattern

Bgee| | Human| Mouse (ortholog)

|

| Top expressed in

* Achilles tendon

* tibia

* pericardium

* stromal cell of endometrium

* periodontal fiber

* gastrocnemius muscle

* tibialis anterior muscle

* triceps brachii muscle

* biceps brachii

* deltoid muscle

| Top expressed in

* calvaria

* right lung lobe

* dermis

* body of femur

* cumulus cell

* sciatic nerve

* yolk sac

* belly cord

* placenta

* proximal tubule

More reference expression data
BioGPS| |

More reference expression data
| Gene ontology

Molecular function|

* iron ion binding
* 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
* identical protein binding

Cellular component|

* procollagen-proline 4-dioxygenase complex
* endoplasmic reticulum
* mitochondrion
* membrane
* intracellular membrane-bounded organelle
* endoplasmic reticulum lumen

Biological process|

* peptidyl-proline hydroxylation to 4-hydroxy-L-proline
* collagen fibril organization

Sources:Amigo / QuickGO
| Orthologs

Species| Human| Mouse
Entrez| |

5033

18451

Ensembl| |

ENSG00000122884

ENSMUSG00000019916

UniProt| |

P13674

Q60715

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 Mb| Chr 10: 59.16 – 59.21 Mb
PubMed search| [3]| [4]
Wikidata
| View/Edit Human| View/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[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000122884 - Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019916 - 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. ^ 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[edit]

* Helaakoski T, Vuori K, Myllylä R, et al. (1989). "Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts". Proc. Natl. Acad. Sci. U.S.A. 86 (12): 4392–6. Bibcode:1989PNAS...86.4392H. doi:10.1073/pnas.86.12.4392. PMC 287275. PMID 2543975.
* Helaakoski T, Veijola J, Vuori K, et al. (1994). "Structure and expression of the human gene for the alpha subunit of prolyl 4-hydroxylase. The two alternatively spliced types of mRNA correspond to two homologous exons the sequences of which are expressed in a variety of tissues". J. Biol. Chem. 269 (45): 27847–54. doi:10.1016/S0021-9258(18)46864-0. PMID 7961714.
* Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
* Annunen P, Helaakoski T, Myllyharju J, et al. (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.
* Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
* Horelli-Kuitunen N, Kvist AP, Helaakoski T, et al. (1998). "The order and transcriptional orientation of the human COL13A1 and P4HA genes on chromosome 10 long arm determined by high-resolution FISH". Genomics. 46 (2): 299–302. doi:10.1006/geno.1997.5015. PMID 9417920.
* 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.
* Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.
* Raveendran M, Senthil D, Utama B, et al. (2004). "Cigarette suppresses the expression of P4Halpha and vascular collagen production". Biochem. Biophys. Res. Commun. 323 (2): 592–8. doi:10.1016/j.bbrc.2004.08.129. PMID 15369792.
* 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.
* Fähling M, Mrowka R, Steege A, et al. (2006). "Heterogeneous nuclear ribonucleoprotein-A2/B1 modulate collagen prolyl 4-hydroxylase, alpha (I) mRNA stability". J. Biol. Chem. 281 (14): 9279–86. doi:10.1074/jbc.M510925200. PMID 16464861.
* Chen L, Shen YH, Wang X, et al. (2006). "Human prolyl-4-hydroxylase alpha(I) transcription is mediated by upstream stimulatory factors". J. Biol. Chem. 281 (16): 10849–55. doi:10.1074/jbc.M511237200. PMC 2819823. PMID 16488890.
* Fähling M, Mrowka R, Steege A, et al. (2006). "Translational control of collagen prolyl 4-hydroxylase-alpha(I) gene expression under hypoxia". J. Biol. Chem. 281 (36): 26089–101. doi:10.1074/jbc.M604939200. PMID 16837461.
* 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.

* v
* t
* e

PDB gallery

* 1tjc: Crystal structure of peptide-substrate-binding domain of human type I collagen prolyl 4-hydroxylase

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

|

* v
* t
* e

*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template