Gene table of P3H1 : prolyl 3-hydroxylase 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with P3H1OMIM linkNumber of associated genesgenes
PS166200OSTEOGENESIS IMPERFECTAClinVar, OMIM link to OMIM 14FKBP10, SPARC, IFITM5, PPIB, BMP1, TMEM38B, P3H1, COL1A1, COL1A2, CRTAP, WNT1, SERPINF1, SP7, SERPINH1

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Annotation of the gene P3H1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Collagen biosynthesis and modifying enzymesR-HSA-16508146.98
Extracellular matrix organizationR-HSA-14742444.91
Collagen formationR-HSA-14742906.56
Associated GO terms for Molecular function
GO termGO IDGO IC
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
oxidoreductase activityGO:00164913.12
anion bindingGO:00431684.17
L-ascorbic acid bindingGO:00314186.69
transition metal ion bindingGO:00469142.48
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donorsGO:00167065.95
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygenGO:00167054.65
ion bindingGO:00431671.36
protein complex bindingGO:00324033.09
iron ion bindingGO:00055064.65
metal ion bindingGO:00468721.41
cation bindingGO:00431691.4
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
peptidyl-proline 3-dioxygenase activityGO:00315448.35
peptidyl-proline dioxygenase activityGO:00315437.25
dioxygenase activityGO:00512135.25
procollagen-proline 3-dioxygenase activityGO:00197978.64
procollagen-proline dioxygenase activityGO:00197987.79
carboxylic acid bindingGO:00314064.64
vitamin bindingGO:00198425.34
protein bindingGO:00055150.46
collagen bindingGO:00055185.58