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Aliases for DDR1 Gene

Aliases for DDR1 Gene

  • Discoidin Domain Receptor Tyrosine Kinase 1 2 3 5
  • CD167 Antigen-Like Family Member A 3 4
  • Protein-Tyrosine Kinase RTK-6 3 4
  • Mammary Carcinoma Kinase 10 3 4
  • Tyrosine-Protein Kinase CAK 3 4
  • Cell Adhesion Kinase 3 4
  • Tyrosine Kinase DDR 3 4
  • EC 2.7.10.1 4 61
  • EDDR1 3 4
  • NTRK4 3 4
  • PTK3A 3 4
  • HGK2 3 4
  • RTK6 3 4
  • TRKE 3 4
  • CAK 3 4
  • NEP 3 4
  • Epithelial Discoidin Domain-Containing Receptor 1 3
  • Neurotrophic Tyrosine Kinase, Receptor, Type 4 3
  • Discoidin Domain Receptor Family, Member 1 2
  • Epithelial Discoidin Domain Receptor 1 4
  • Discoidin Receptor Tyrosine Kinase 4
  • PTK3A Protein Tyrosine Kinase 3A 3
  • Neuroepithelial Tyrosine Kinase 3
  • Protein-Tyrosine Kinase 3A 4
  • CD167a Antigen 4
  • EC 2.7.10 61
  • MCK-10 4
  • CD167 3
  • MCK10 3
  • TRK E 4
  • PTK3 3
  • DDR 3

External Ids for DDR1 Gene

Previous HGNC Symbols for DDR1 Gene

  • NTRK4
  • PTK3A
  • NEP
  • CAK
  • EDDR1

Previous GeneCards Identifiers for DDR1 Gene

  • GC06P030907
  • GC06P030619
  • GC06P030959
  • GC06P030960
  • GC06P030631
  • GC06P030848
  • GC06P030653

Summaries for DDR1 Gene

Entrez Gene Summary for DDR1 Gene

  • 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]

GeneCards Summary for DDR1 Gene

DDR1 (Discoidin Domain Receptor Tyrosine Kinase 1) is a Protein Coding gene. Diseases associated with DDR1 include Membranous Nephropathy and Churg-Strauss Syndrome. Among its related pathways are p70S6K Signaling and GPCR Pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is DDR2.

UniProtKB/Swiss-Prot for DDR1 Gene

  • 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.

Gene Wiki entry for DDR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDR1 Gene

Genomics for DDR1 Gene

Regulatory Elements for DDR1 Gene

Enhancers for DDR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around DDR1 on UCSC Golden Path with GeneCards custom track

Promoters for DDR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Transcription factor binding sites by QIAGEN in the DDR1 gene promoter:

Genomic Location for DDR1 Gene

Chromosome:
6
Start:
30,876,421 bp from pter
End:
30,900,156 bp from pter
Size:
23,736 bases
Orientation:
Plus strand

Genomic View for DDR1 Gene

Genes around DDR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for DDR1 Gene

  • Protein details for DDR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08345-DDR1_HUMAN
    Recommended name:
    Epithelial discoidin domain-containing receptor 1
    Protein Accession:
    Q08345
    Secondary Accessions:
    • B5A975
    • B5A976
    • B7Z2K0
    • Q14196
    • Q16562
    • Q2L6H3
    • Q4LE50
    • Q5ST11
    • Q5ST12
    • Q6NSK4
    • Q9UD35
    • Q9UD36
    • Q9UD37
    • Q9UD86
    • Q9UDL2

    Protein attributes for DDR1 Gene

    Size:
    913 amino acids
    Molecular mass:
    101128 Da
    Quaternary structure:
    • 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.
    • 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.
    SequenceCaution:
    • Sequence=ACF47649.1; Type=Erroneous termination; Positions=287; Note=Translated as Cys.; Evidence={ECO:0000305}; Sequence=BAE06103.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DDR1 Gene

    Alternative splice isoforms for DDR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDR1 Gene

Post-translational modifications for DDR1 Gene

  • Autophosphorylated in response to fibrillar collagen binding.
  • Glycosylation of Asn-211, but apparently not of Asn-260, Asn-371, or Asn-394, prevents autophosphorylation from occurring in the absence of collagen.
  • Glycosylation at Asn 211, Asn 260, Asn 370, Asn 371, and Asn 394
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DDR1 (DDR1)

Domains & Families for DDR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q08345

UniProtKB/Swiss-Prot:

DDR1_HUMAN :
  • The Gly/Pro-rich domains may be required for an unusual geometry of interaction with ligand or substrates.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Domain:
  • The Gly/Pro-rich domains may be required for an unusual geometry of interaction with ligand or substrates.
  • Contains 1 F5/8 type C domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
genes like me logo Genes that share domains with DDR1: view

Function for DDR1 Gene

Molecular function for DDR1 Gene

GENATLAS Biochemistry:
discoidin domains receptor family,member 1
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the multi-targeted cancer drugs imatinib and ponatinib.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for DDR1 Gene

Gene Ontology (GO) - Molecular Function for DDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004714 transmembrane receptor protein tyrosine kinase activity TAS 9659899
GO:0005515 protein binding IPI 16337946
GO:0005518 collagen binding IMP 12065315
GO:0005524 ATP binding IEA --
GO:0038062 protein tyrosine kinase collagen receptor activity IDA 9659899
genes like me logo Genes that share ontologies with DDR1: view
genes like me logo Genes that share phenotypes with DDR1: view

Animal Models for DDR1 Gene

MGI Knock Outs for DDR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DDR1

CRISPR Products

miRNA for DDR1 Gene

Clone Products

  • Addgene plasmids for DDR1

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDR1 Gene

Localization for DDR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDR1 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Cell membrane; Single-pass type I membrane protein.
Isoform 3: Secreted.
Isoform 4: Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DDR1 Gene COMPARTMENTS Subcellular localization image for DDR1 gene
Compartment Confidence
extracellular 3
plasma membrane 3
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with DDR1: view

Pathways & Interactions for DDR1 Gene

genes like me logo Genes that share pathways with DDR1: view

Pathways by source for DDR1 Gene

SIGNOR curated interactions for DDR1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IEA --
GO:0001952 regulation of cell-matrix adhesion IEA --
GO:0007155 cell adhesion TAS 8302582
GO:0007566 embryo implantation IEA --
GO:0007595 lactation IEA --
genes like me logo Genes that share ontologies with DDR1: view

Drugs & Compounds for DDR1 Gene

(9) Drugs for DDR1 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
imatinib Approved Pharma inhibitor, Target, antagonist Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Gleevec Approved May 2001 Pharma 0
Adenosine triphosphate Approved Nutra 0
DDR1-IN-1 Pharma 0

(5) Additional Compounds for DDR1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
N-desmethylimatinib
  • CGP74588

(1) ApexBio Compounds for DDR1 Gene

Compound Action Cas Number
DDR1-IN-1 1449685-96-4
genes like me logo Genes that share compounds with DDR1: view

Transcripts for DDR1 Gene

Unigene Clusters for DDR1 Gene

Discoidin domain receptor tyrosine kinase 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for DDR1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDR1 Gene

No ASD Table

Relevant External Links for DDR1 Gene

GeneLoc Exon Structure for
DDR1
ECgene alternative splicing isoforms for
DDR1

Expression for DDR1 Gene

mRNA expression in normal human tissues for DDR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDR1 Gene

This gene is overexpressed in Lung (38.3), Milk (15.1), and Monocytes (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DDR1 Gene:

DDR1

SOURCE GeneReport for Unigene cluster for DDR1 Gene:

Hs.631988

mRNA Expression by UniProt/SwissProt for DDR1 Gene:

Q08345-DDR1_HUMAN
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.
genes like me logo Genes that share expression patterns with DDR1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for DDR1 Gene

Orthologs for DDR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DDR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DDR1 34
  • 91.41 (n)
  • 95.61 (a)
DDR1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDR1 34
  • 91.25 (n)
  • 95.88 (a)
DDR1 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddr1 34
  • 88.08 (n)
  • 94.3 (a)
Ddr1 16
Ddr1 35
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DDR1 34
  • 99.78 (n)
  • 100 (a)
DDR1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddr1 34
  • 87.6 (n)
  • 94.64 (a)
oppossum
(Monodelphis domestica)
Mammalia DDR1 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
chicken
(Gallus gallus)
Aves GTF2H4 35
  • 54 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia DDR1 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddr1 34
  • 62.56 (n)
  • 64.04 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC69083 34
zebrafish
(Danio rerio)
Actinopterygii ddr1 34
  • 64.42 (n)
  • 63.96 (a)
ddr1 35
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34380 35
  • 23 (a)
ManyToMany
Ddr 35
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ddr-2 35
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1149 35
  • 39 (a)
OneToMany
Species where no ortholog for DDR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDR1 Gene

ENSEMBL:
Gene Tree for DDR1 (if available)
TreeFam:
Gene Tree for DDR1 (if available)

Paralogs for DDR1 Gene

Paralogs for DDR1 Gene

genes like me logo Genes that share paralogs with DDR1: view

Variants for DDR1 Gene

Sequence variations from dbSNP and Humsavar for DDR1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs55901302 - 30,888,778(+) TGGCA(A/G/T)GTGGA reference, missense
VAR_041493 -
VAR_041494 -
VAR_041495 -
rs56024191 - 30,892,359(+) GCTTC(C/T)GGCGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DDR1 Gene

Variant ID Type Subtype PubMed ID
esv2670269 CNV deletion 23128226
esv2731791 CNV deletion 23290073
esv3411275 CNV duplication 20981092
esv3608518 CNV gain 21293372
nsv1031677 CNV gain 25217958
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv5245 CNV insertion 18451855
nsv525438 CNV gain 19592680
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv601482 CNV loss 21841781

Variation tolerance for DDR1 Gene

Residual Variation Intolerance Score: 9.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDR1 Gene

Human Gene Mutation Database (HGMD)
DDR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDR1 Gene

Disorders for DDR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DDR1 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
membranous nephropathy
  • membranous glomerulonephritis, antenatal
churg-strauss syndrome
  • allergic granulomatosis angiitis
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search DDR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DDR1

Genetic Association Database (GAD)
DDR1
Human Genome Epidemiology (HuGE) Navigator
DDR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDR1
genes like me logo Genes that share disorders with DDR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDR1 Gene

Publications for DDR1 Gene

  1. Linkage and association study of discoidin domain receptor 1 as a novel susceptibility gene for childhood IgA nephropathy. (PMID: 20372823) Hahn W.H. … Kim S.D. (Int. J. Mol. Med. 2010) 3 22 46 65
  2. DDR1 regulates the stabilization of cell surface E-cadherin and E- cadherin-mediated cell aggregation. (PMID: 20432435) Eswaramoorthy R. … Wang C.Z. (J. Cell. Physiol. 2010) 3 4 22 65
  3. The collagen receptor DDR1 regulates cell spreading and motility by associating with myosin IIA. (PMID: 19401332) Huang Y. … Vogel W.F. (J. Cell Sci. 2009) 3 4 22 65
  4. KIBRA interacts with discoidin domain receptor 1 to modulate collagen-induced signalling. (PMID: 18190796) Hilton H.N. … Ormandy C.J. (Biochim. Biophys. Acta 2008) 3 4 22 65
  5. The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia. (PMID: 17440435) Roig B. … Vilella E. (Mol. Psychiatry 2007) 3 22 46 65

Products for DDR1 Gene

  • Addgene plasmids for DDR1

Sources for DDR1 Gene

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