The gene information section lists the gene name (HUGO Gene Nomenclature Committee (HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version. The Entrez gene identifier for the gene is also given. If any of the protein products of the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the neXtProt databases for these proteins are displayed.
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]
The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Common (purple) and unique (grey) regions between alternative processed transcripts from the same gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website for that protein, and the ENST identifier links to the Ensembl website for that transcript. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes to which this protein has been assigned 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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column.
The length of the protein (amino acid residues) (according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius and predicted transmembrane region(s) (according to MDM) are also reported.
GO:0001666 [response to hypoxia] GO:0005506 [iron ion binding] GO:0005783 [endoplasmic reticulum] GO:0006464 [cellular protein modification process] GO:0008475 [procollagen-lysine 5-dioxygenase activity] GO:0016702 [oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] GO:0030867 [rough endoplasmic reticulum membrane] GO:0031418 [L-ascorbic acid binding] GO:0032870 [cellular response to hormone stimulus]
GO:0001666 [response to hypoxia] GO:0005506 [iron ion binding] GO:0005783 [endoplasmic reticulum] GO:0006464 [cellular protein modification process] GO:0008475 [procollagen-lysine 5-dioxygenase activity] GO:0016702 [oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] GO:0030867 [rough endoplasmic reticulum membrane] GO:0031418 [L-ascorbic acid binding]
GO:0005506 [iron ion binding] GO:0005581 [collagen] GO:0005783 [endoplasmic reticulum] GO:0008475 [procollagen-lysine 5-dioxygenase activity] GO:0016702 [oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] GO:0031418 [L-ascorbic acid binding]
