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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
q28
Chromosome location (bp)
189956728 - 190122437
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens 1. Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1 2. Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline 3. Has no activity on substrates that lack 4-hydroxyproline in the third position 4....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Dioxygenase, Oxidoreductase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Iron, Metal-binding, Vitamin C
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Oxidoreductases Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005604[basement membrane] GO:0005654[nucleoplasm] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0008285[negative regulation of cell population proliferation] GO:0016491[oxidoreductase activity] GO:0016529[sarcoplasmic reticulum] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0019511[peptidyl-proline hydroxylation] GO:0019797[procollagen-proline 3-dioxygenase activity] GO:0031418[L-ascorbic acid binding] GO:0032963[collagen metabolic process] GO:0043231[intracellular membrane-bounded organelle] GO:0046872[metal ion binding] GO:0051213[dioxygenase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005604[basement membrane] GO:0005654[nucleoplasm] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0008285[negative regulation of cell population proliferation] GO:0016491[oxidoreductase activity] GO:0016529[sarcoplasmic reticulum] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0019511[peptidyl-proline hydroxylation] GO:0019797[procollagen-proline 3-dioxygenase activity] GO:0031418[L-ascorbic acid binding] GO:0032963[collagen metabolic process] GO:0043231[intracellular membrane-bounded organelle] GO:0046872[metal ion binding] GO:0051213[dioxygenase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Eye disease Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
