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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 Metabolic proteins 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
q24
Chromosome location (bp)
146035139 - 146163725
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Forms hydroxylysine residues in -Xaa-Lys-Gly-sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links....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
The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]...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 Metabolic proteins 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)
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GO:0001666[response to hypoxia] GO:0005506[iron ion binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0017185[peptidyl-lysine hydroxylation] GO:0030867[rough endoplasmic reticulum membrane] GO:0031418[L-ascorbic acid binding] GO:0036211[protein modification process] GO:0046872[metal ion binding] GO:0046947[hydroxylysine biosynthetic process] GO:0051213[dioxygenase activity] GO:0070062[extracellular exosome]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins 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)
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GO:0001666[response to hypoxia] GO:0005506[iron ion binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0017185[peptidyl-lysine hydroxylation] GO:0030867[rough endoplasmic reticulum membrane] GO:0031418[L-ascorbic acid binding] GO:0036211[protein modification process] GO:0046872[metal ion binding] GO:0046947[hydroxylysine biosynthetic process] GO:0051213[dioxygenase activity] GO:0070062[extracellular exosome]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
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GO:0005506[iron ion binding] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0031418[L-ascorbic acid binding]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506[iron ion binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0031418[L-ascorbic acid binding] GO:0046872[metal ion binding] GO:0051213[dioxygenase activity]
Metabolic proteins 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 Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506[iron ion binding] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0031418[L-ascorbic acid binding]
Metabolic proteins 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 Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506[iron ion binding] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0031418[L-ascorbic acid binding]
Metabolic proteins 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 Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506[iron ion binding] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0031418[L-ascorbic acid binding]
Metabolic proteins 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 Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506[iron ion binding] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0031418[L-ascorbic acid binding]
Metabolic proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
Metabolic proteins 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 Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506[iron ion binding] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0031418[L-ascorbic acid binding]
Metabolic proteins 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 Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506[iron ion binding] GO:0008475[procollagen-lysine 5-dioxygenase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0031418[L-ascorbic acid binding]
The Human Protein Atlas project is funded
