We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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
1
Cytoband
p34.2
Chromosome location (bp)
42746335 - 42767084
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts....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 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]...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 Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674[molecular_function] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005576[extracellular region] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0006457[protein folding] GO:0008285[negative regulation of cell population proliferation] GO:0010976[positive regulation of neuron projection development] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0018126[protein hydroxylation] GO:0019511[peptidyl-proline hydroxylation] GO:0019797[procollagen-proline 3-dioxygenase activity] GO:0031418[L-ascorbic acid binding] GO:0032963[collagen metabolic process] GO:0032991[protein-containing complex] GO:0046872[metal ion binding] GO:0050708[regulation of protein secretion] GO:0050821[protein stabilization] GO:0051213[dioxygenase activity] GO:0060348[bone development] GO:0061077[chaperone-mediated protein folding] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome] GO:1901874[negative regulation of post-translational protein modification]
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 Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674[molecular_function] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0006457[protein folding] GO:0008285[negative regulation of cell population proliferation] GO:0010976[positive regulation of neuron projection development] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0018126[protein hydroxylation] GO:0019511[peptidyl-proline hydroxylation] GO:0019797[procollagen-proline 3-dioxygenase activity] GO:0031418[L-ascorbic acid binding] GO:0032963[collagen metabolic process] GO:0032991[protein-containing complex] GO:0046872[metal ion binding] GO:0050708[regulation of protein secretion] GO:0050821[protein stabilization] GO:0051213[dioxygenase activity] GO:0060348[bone development] GO:0061077[chaperone-mediated protein folding] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome] GO:1901874[negative regulation of post-translational protein modification]
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 Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674[molecular_function] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005576[extracellular region] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0006457[protein folding] GO:0008285[negative regulation of cell population proliferation] GO:0010976[positive regulation of neuron projection development] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0018126[protein hydroxylation] GO:0019511[peptidyl-proline hydroxylation] GO:0019797[procollagen-proline 3-dioxygenase activity] GO:0031418[L-ascorbic acid binding] GO:0032963[collagen metabolic process] GO:0032991[protein-containing complex] GO:0046872[metal ion binding] GO:0050708[regulation of protein secretion] GO:0050821[protein stabilization] GO:0051213[dioxygenase activity] GO:0060348[bone development] GO:0061077[chaperone-mediated protein folding] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome] GO:1901874[negative regulation of post-translational protein modification]
The Human Protein Atlas project is funded
