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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).
Cancer-related genes CD markers Disease related genes Enzymes FDA approved drug targets Human disease related genes
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
q23.3
Chromosome location (bp)
162631373 - 162787405
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Tyrosine kinase involved in the regulation of tissues remodeling 1. It functions as a cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Osteogenesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017]...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 Transferases Kinases Tyr protein kinases CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs 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) DeepTMHMM predicted membrane proteins
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GO:0000166[nucleotide binding] GO:0001503[ossification] GO:0003416[endochondral bone growth] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005524[ATP binding] GO:0005886[plasma membrane] GO:0005887[integral component of plasma membrane] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0007155[cell adhesion] GO:0007165[signal transduction] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0008284[positive regulation of cell population proliferation] GO:0010715[regulation of extracellular matrix disassembly] GO:0010763[positive regulation of fibroblast migration] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016324[apical plasma membrane] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0030199[collagen fibril organization] GO:0030500[regulation of bone mineralization] GO:0031214[biomineral tissue development] GO:0032967[positive regulation of collagen biosynthetic process] GO:0033673[negative regulation of kinase activity] GO:0033674[positive regulation of kinase activity] GO:0034103[regulation of tissue remodeling] GO:0035988[chondrocyte proliferation] GO:0035994[response to muscle stretch] GO:0038062[protein tyrosine kinase collagen receptor activity] GO:0038063[collagen-activated tyrosine kinase receptor signaling pathway] GO:0043066[negative regulation of apoptotic process] GO:0043235[receptor complex] GO:0045669[positive regulation of osteoblast differentiation] GO:0045860[positive regulation of protein kinase activity] GO:0046777[protein autophosphorylation] GO:0048146[positive regulation of fibroblast proliferation] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0060547[negative regulation of necrotic cell death] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071456[cellular response to hypoxia] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0090091[positive regulation of extracellular matrix disassembly] GO:0090303[positive regulation of wound healing] GO:1900087[positive regulation of G1/S transition of mitotic cell cycle] GO:1901216[positive regulation of neuron death] GO:1901299[negative regulation of hydrogen peroxide-mediated programmed cell death] GO:1904385[cellular response to angiotensin] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1904754[positive regulation of vascular associated smooth muscle cell migration] GO:1904899[positive regulation of hepatic stellate cell proliferation] GO:2000491[positive regulation of hepatic stellate cell activation]
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs 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) DeepTMHMM predicted membrane proteins
Show all
GO:0000166[nucleotide binding] GO:0001503[ossification] GO:0003416[endochondral bone growth] GO:0004672[protein kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0004714[transmembrane receptor protein tyrosine kinase activity] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005524[ATP binding] GO:0005886[plasma membrane] GO:0005887[integral component of plasma membrane] GO:0005925[focal adhesion] GO:0006468[protein phosphorylation] GO:0007155[cell adhesion] GO:0007165[signal transduction] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0010715[regulation of extracellular matrix disassembly] GO:0010763[positive regulation of fibroblast migration] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0030199[collagen fibril organization] GO:0030500[regulation of bone mineralization] GO:0031214[biomineral tissue development] GO:0033674[positive regulation of kinase activity] GO:0034103[regulation of tissue remodeling] GO:0035988[chondrocyte proliferation] GO:0038062[protein tyrosine kinase collagen receptor activity] GO:0038063[collagen-activated tyrosine kinase receptor signaling pathway] GO:0043235[receptor complex] GO:0045669[positive regulation of osteoblast differentiation] GO:0045860[positive regulation of protein kinase activity] GO:0046777[protein autophosphorylation] GO:0048146[positive regulation of fibroblast proliferation] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0090091[positive regulation of extracellular matrix disassembly]
The Human Protein Atlas project is funded
