AlphaFold predicted structure
DDR1 · Q08345
Mean pLDDT
76.2/ 100
Confident
913 residues
Confidence breakdown
- Very high(≥ 90)53%
- Confident(70–90)17%
- Low(50–70)4%
- Very low(< 50)25%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DDR1
Chr 6p21.33discoidin domain receptor tyrosine kinase 1
- Aliases:
- RTK6, CD167
- MANE:
- ENST00000376568.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
Disease associations (Open Targets)
neurodegenerative disease
0.45multiple sclerosis
0.26Alzheimer disease
0.25Parkinson disease
0.24lysosomal storage disease
0.23spondyloepiphyseal dysplasia with congenital joint dislocations
0.18ankylosing spondylitis
0.16neoplasm
0.12cancer
0.11gastric cancer
0.11
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Epithelial discoidin domain-containing receptor 1
Tyrosine kinase that functions as a 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