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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 associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
P3H1 (Prolyl 3-Hydroxylase 1) is a Protein Coding gene. Diseases associated with P3H1 include Osteogenesis Imperfecta, Type Viii and Brittle Bone Disorder. Among its related pathways are Degradation of the extracellular matrix and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is P3H2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005506 | iron ion binding | IEA | -- |
GO:0005515 | protein binding | ISS | 15044469 |
GO:0005518 | contributes_to collagen binding | ISS | 15044469 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005783 | endoplasmic reticulum | IBA,IDA | 19846465 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
GO:0032991 | protein-containing complex | ISS | 15044469 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization | ||
2 | Degradation of the extracellular matrix |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006457 | protein folding | IMP | 17277775 |
GO:0008285 | negative regulation of cell proliferation | NAS | 10951563 |
GO:0010976 | positive regulation of neuron projection development | ISS | -- |
GO:0018126 | protein hydroxylation | IMP | 17277775 |
GO:0019511 | peptidyl-proline hydroxylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Succinic acid | Approved | Nutra | Agonist, Full agonist, Enzyme, product of | 0 | ||
Vitamin C | Approved | Nutra | Target, cofactor | 748,748 | ||
Iron | Approved, Experimental | Pharma | 1560 | |||
Oxygen | Approved, Vet_approved | Pharma | 0 | |||
Oxogluric acid | Experimental, Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Hydroxy-L-proline |
|
4298-08-2 |
|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - |
ExUns: | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | ||||||||||||||||
SP3: | - | - | |||||||||||||||
SP4: | - | ||||||||||||||||
SP5: | - | ||||||||||||||||
SP6: | - | ||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LEPRE1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LEPRE1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LEPRE1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lepre1 30 31 |
|
OneToOne | |
P3h1 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Lepre1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | LEPRE1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LEPRE1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LEPRE1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lepre1 30 |
|
||
Str.1368 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | lepre1 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | Y73F8A.26 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635343 | Pathogenic: Osteogenesis imperfecta | 42,762,400(-) | G/A | NONSENSE | |
635408 | Likely Pathogenic: Osteogenesis imperfecta type 8 | 42,766,740(-) | G/A | NONSENSE | |
639464 | Uncertain Significance: Osteogenesis imperfecta type 8 | 42,762,475(-) | T/C | MISSENSE_VARIANT | |
643686 | Uncertain Significance: Osteogenesis imperfecta type 8 | 42,747,355(-) | G/T | MISSENSE_VARIANT | |
646432 | Uncertain Significance: Osteogenesis imperfecta type 8 | 42,762,430(-) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
osteogenesis imperfecta, type viii |
|
|
brittle bone disorder |
|
|
osteogenesis imperfecta, type ii |
|
|
osteogenesis imperfecta, type iii |
|
|
dentinogenesis imperfecta |
|
|