Human Gene DDR1 (uc011gup.2) Description and Page Index
Description: Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 2, mRNA. RefSeq Summary (NM_013993): Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]. Transcript (Including UTRs) Position: chr6_mann_hap4:2,200,400-2,216,014 Size: 15,615 Total Exon Count: 19 Strand: + Coding Region Position: chr6_mann_hap4:2,204,592-2,215,154 Size: 10,563 Coding Exon Count: 17
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Comments and Description Text from UniProtKB
ID:DDR1_HUMAN DESCRIPTION: RecName: Full=Epithelial discoidin domain-containing receptor 1; Short=Epithelial discoidin domain receptor 1; EC=220.127.116.11; AltName: Full=CD167 antigen-like family member A; AltName: Full=Cell adhesion kinase; AltName: Full=Discoidin receptor tyrosine kinase; AltName: Full=HGK2; AltName: Full=Mammary carcinoma kinase 10; Short=MCK-10; AltName: Full=Protein-tyrosine kinase 3A; AltName: Full=Protein-tyrosine kinase RTK-6; AltName: Full=TRK E; AltName: Full=Tyrosine kinase DDR; AltName: Full=Tyrosine-protein kinase CAK; AltName: CD_antigen=CD167a; Flags: Precursor; FUNCTION: Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Required for normal blastocyst implantation during pregnancy, for normal mammary gland differentiation and normal lactation. Required for normal ear morphology and normal hearing (By similarity). Promotes smooth muscle cell migration, and thereby contributes to arterial wound healing. Also plays a role in tumor cell invasion. Phosphorylates PTPN11. CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. SUBUNIT: Homodimer. Interacts (via PPxY motif) with WWC1 (via WW domains) in a collagen-regulated manner. Forms a tripartite complex with WWC1 and PRKCZ, but predominantly in the absence of collagen. Interacts (tyrosine phosphorylated) with SHC1. Interacts with SRC. Interacts with MYH9. Interacts with CDH1. Interacts with PTPN11. Interacts with NCK2. INTERACTION: O43639:NCK2; NbExp=3; IntAct=EBI-711879, EBI-713635; Q06124:PTPN11; NbExp=4; IntAct=EBI-711879, EBI-297779; SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform 3: Secreted (Potential). SUBCELLULAR LOCATION: Isoform 4: Cell membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Detected in T-47D, MDA-MB-175 and HBL-100 breast carcinoma cells, A-431 epidermoid carcinoma cells, SW48 and SNU-C2B colon carcinoma cells and Hs 294T melanoma cells (at protein level). Expressed at low levels in most adult tissues and is highest in the brain, lung, placenta and kidney. Lower levels of expression are detected in melanocytes, heart, liver, skeletal muscle and pancreas. Abundant in breast carcinoma cell lines. In the colonic mucosa, expressed in epithelia but not in the connective tissue of the lamina propria. In the thyroid gland, expressed in the epithelium of the thyroid follicles. In pancreas, expressed in the islets of Langerhans cells, but not in the surrounding epithelial cells of the exocrine pancreas. In kidney, expressed in the epithelia of the distal tubules. Not expressed in connective tissue, endothelial cells, adipose tissue, muscle cells or cells of hematopoietic origin. DOMAIN: The Gly/Pro-rich domains may be required for an unusual geometry of interaction with ligand or substrates. PTM: Autophosphorylated in response to fibrillar collagen binding. SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. SIMILARITY: Contains 1 F5/8 type C domain. SIMILARITY: Contains 1 protein kinase domain. SEQUENCE CAUTION: Sequence=ACF47649.1; Type=Erroneous termination; Positions=287; Note=Translated as Cys; Sequence=BAE06103.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/DDR1ID40280ch6p21.html";
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q08345
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.