Showing entry for Prolyl 3-hydroxylase 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT014324
Protein NameProlyl 3-hydroxylase 1
Uniport IdQ32P28
GeneP3H1
Gene Id64175
Domain2OG-FeII_Oxy_3
Pfam PF13640  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0060348 bone development
Biological Process GO:0061077 chaperone-mediated protein folding
Biological Process GO:0032963 collagen metabolic process
Biological Process GO:0008285 negative regulation of cell population proliferation
Biological Process GO:1901874 negative regulation of post-translational protein modification
Biological Process GO:0010976 positive regulation of neuron projection development
Biological Process GO:0006457 protein folding
Biological Process GO:0018126 protein hydroxylation
Biological Process GO:0050821 protein stabilization
Biological Process GO:0050708 regulation of protein secretion
molecular function GO:0005506 iron ion binding
molecular function GO:0031418 L-ascorbic acid binding
molecular function GO:0019797 procollagen-proline 3-dioxygenase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0005783 endoplasmic reticulum
cellular component GO:0005788 endoplasmic reticulum lumen
cellular component GO:0070062 extracellular exosome
cellular component GO:0016020 membrane
cellular component GO:0005634 nucleus
cellular component GO:0032991 protein-containing complex
Reactome
Pathway Id Pathway Name
R-HSA-1474244 Extracellular matrix organization
R-HSA-1474290 Collagen formation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0005940 BXGD000352 Bone Diseases Musculoskeletal Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023931 BXGD001722 Lobstein Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0026707 BXGD001922 Mucopolysaccharidosis IV Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0029434 BXGD002146 Osteogenesis Imperfecta Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0085096 BXGD003123 Peripheral Vascular Diseases Cardiovascular Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0239479 BXGD004982 Round face
C0262431 BXGD005242 Compression fracture of vertebral column Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries
C0264172 BXGD005371 Barrel chest Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0268358 BXGD005913 Osteogenesis imperfecta, dominant perinatal lethal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0268362 BXGD005915 Osteogenesis imperfecta type III (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0277828 BXGD006480 Late fontanel closure
C0423361 BXGD008482 Posterior Vitreous Detachment Eye Diseases
C0426818 BXGD008586 Thin rib
C0432073 BXGD008719 Defect of skull ossification
C0557874 BXGD009444 Global developmental delay
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C1833144 BXGD013898 Slender long bone
C1837081 BXGD014193 Tibial bowing Musculoskeletal Diseases
C1837084 BXGD014195 Short metacarpal
C1844704 BXGD014665 Platyspondyly
C1849937 BXGD015091 Disproportionate short-limb short stature
C1853171 BXGD015310 Multiple prenatal fractures
C1859399 BXGD015886 Radial bowing
C1859461 BXGD015895 Femoral bowing Musculoskeletal Diseases
C1866134 BXGD016378 Wide anterior fontanel
C1866730 BXGD016419 Rhizomelia
C1970458 BXGD016837 Osteogenesis imperfecta, type VIII Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C1970461 BXGD016838 Externally rotated/abducted legs
C1970463 BXGD016839 Type 1 collagen overmodification
C3805574 BXGD019481 Increased fracture rate
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000288 L-Proline 115.13
BXGC0000764 L-Ascorbic acid 176.12
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein