• Gene id: 64175

Gene Summary

• Gene Symbol: P3H1   Gene   UCSC   Ensembl
• Aliases: GROS1, LEPRE1, OI8
• Gene name: prolyl 3-hydroxylase 1
• Alternate names: prolyl 3-hydroxylase 1, growth suppressor 1, leprecan, leucine proline-enriched proteoglycan (leprecan) 1, leucine- and proline-enriched proteoglycan 1, procollagen-proline 3-dioxygenase,
• Gene location: 1p34.2 (42767083: 42746334)     Exons: 16     NC_000001.11
• Gene summary(Entrez): 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 associat
• OMIM: 601906

Protein Summary

• Protein general information: Q32P28  
  • Name: Prolyl 3 hydroxylase 1 (EC 1.14.11.7) (Growth suppressor 1) (Leucine and proline enriched proteoglycan 1) (Leprecan 1)
  • Length: 736  
  • Mass: 83394
• Sequence:

  MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTAAYARGDWPGVVLSMERALRSRAALRALRLRC
  RTQCAADFPWELDPDWSPSPAQASGAAALRDLSFFGGLLRRAACLRRCLGPPAAHSLSEEMELEFRKRSPYNYLQ
  VAYFKINKLEKAVAAAHTFFVGNPEHMEMQQNLDYYQTMSGVKEADFKDLETQPHMQEFRLGVRLYSEEQPQEAV
  PHLEAALQEYFVAYEECRALCEGPYDYDGYNYLEYNADLFQAITDHYIQVLNCKQNCVTELASHPSREKPFEDFL
  PSHYNYLQFAYYNIGNYTQAVECAKTYLLFFPNDEVMNQNLAYYAAMLGEEHTRSIGPRESAKEYRQRSLLEKEL
  LFFAYDVFGIPFVDPDSWTPEEVIPKRLQEKQKSERETAVRISQEIGNLMKEIETLVEEKTKESLDVSRLTREGG
  PLLYEGISLTMNSKLLNGSQRVVMDGVISDHECQELQRLTNVAATSGDGYRGQTSPHTPNEKFYGVTVFKALKLG
  QEGKVPLQSAHLYYNVTEKVRRIMESYFRLDTPLYFSYSHLVCRTAIEEVQAERKDDSHPVHVDNCILNAETLVC
  VKEPPAYTFRDYSAILYLNGDFDGGNFYFTELDAKTVTAEVQPQCGRAVGFSSGTENPHGVKAVTRGQRCAIALW
  FTLDPRHSERDRVQADDLVKMLFSPEEMDLSQEQPLDAQQGPPEPAQESLSGSESKPKDEL

• Structural information:
  • Protein Domains: (564..67-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR005123  IPR039575  IPR039837  IPR006620  IPR011990  
  • Prosite: PS00014 PS51471
  • STRING: ENSP00000236040
• Other Databases: GeneCards:  P3H1  Malacards:  P3H1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0019797	procollagen-proline 3-dioxygenase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0032963	collagen metabolic process	IBA	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0032963	collagen metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0019797	procollagen-proline 3-dioxygenase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0019797	procollagen-proline 3-dioxygenase activity	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0019511	peptidyl-proline hydroxylation	IEA	biological process
GO:0019511	peptidyl-proline hydroxylation	IEA	biological process
GO:0019511	peptidyl-proline hydroxylation	IEA	biological process
GO:0019511	peptidyl-proline hydroxylation	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0061077	chaperone-mediated protein folding	ISS	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0032991	protein-containing complex	ISS	cellular component
GO:0018126	protein hydroxylation	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0050821	protein stabilization	IMP	biological process
GO:0032963	collagen metabolic process	ISS	biological process
GO:0006457	protein folding	IMP	biological process
GO:1901874	negative regulation of post-translational protein modification	IMP	biological process
GO:0060348	bone development	IMP	biological process
GO:0060348	bone development	IMP	biological process
GO:0050708	regulation of protein secretion	IMP	biological process
GO:0005518	collagen binding	ISS	contributes to
GO:0016020	membrane	HDA	cellular component
GO:1901874	negative regulation of post-translational protein modification	IMP	biological process
GO:0005515	protein binding	ISS	molecular function
GO:0019797	procollagen-proline 3-dioxygenase activity	ISS	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0008285	negative regulation of cell population proliferation	NAS	biological process

Diseases

Associated diseases	References
Osteogenesis imperfecta	KEGG:H00506
Osteogenesis imperfecta	KEGG:H00506
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq