Version: 8.0.0
Date: Tue Jan 28 2025
DDR1
Homo sapiensHGNC:2730
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

DDR1

Species
Homo sapiens
Symbol
DDR1
Name
discoidin domain receptor tyrosine kinase 1
Synonyms
  • CAK
  • CD167
Biotype
protein coding gene
Automated Description
Enables collagen binding activity and protein tyrosine kinase collagen receptor activity. Involved in several processes, including collagen-activated tyrosine kinase receptor signaling pathway; peptidyl-tyrosine autophosphorylation; and smooth muscle cell-matrix adhesion. Located in extracellular exosome. Part of receptor complex. Implicated in breast carcinoma; lung non-small cell carcinoma; osteosarcoma; and skin melanoma. Biomarker of several diseases, including clear cell renal cell carcinoma; gastrointestinal system cancer (multiple); idiopathic pulmonary fibrosis; liver disease (multiple); and skin melanoma.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24416
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          DDR1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            DDR1 role
            DDR1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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