Human Gene DDR1 (ENST00000324771.12_7) from GENCODE V47lift37
  Description: 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. (from UniProt Q08345)
Gencode Transcript: ENST00000324771.12_7
Gencode Gene: ENSG00000204580.14_15
Transcript (Including UTRs)
   Position: hg19 chr6:30,848,626-30,867,931 Size: 19,306 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr6:30,856,507-30,867,073 Size: 10,567 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:30,848,626-30,867,931)mRNA (may differ from genome)Protein (913 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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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=2.7.10.1; 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.
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;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DDR1
Diseases sorted by gene-association score: breast cancer (4), pulmonary fibrosis, idiopathic (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 48.20 RPKM in Minor Salivary Gland
Total median expression: 963.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -246.80548-0.450 Picture PostScript Text
3' UTR -306.00858-0.357 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000421 - Coagulation_fac_5/8-C_type_dom
IPR008979 - Galactose-bd-like
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR008266 - Tyr_kinase_AS
IPR020635 - Tyr_kinase_cat_dom
IPR002011 - Tyr_kinase_rcpt_2_CS

Pfam Domains:
PF00069 - Protein kinase domain
PF00754 - F5/8 type C domain
PF07714 - Protein tyrosine and serine/threonine kinase

SCOP Domains:
49785 - Galactose-binding domain-like
56112 - Protein kinase-like (PK-like)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4AG4 - X-ray MuPIT


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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
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:0016301 kinase activity
GO:0016740 transferase activity
GO:0038062 protein tyrosine kinase collagen receptor activity
GO:0046872 metal ion binding

Biological Process:
GO:0001558 regulation of cell growth
GO:0001952 regulation of cell-matrix adhesion
GO:0006468 protein phosphorylation
GO:0007155 cell adhesion
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007565 female pregnancy
GO:0007566 embryo implantation
GO:0007595 lactation
GO:0008285 negative regulation of cell proliferation
GO:0010715 regulation of extracellular matrix disassembly
GO:0014909 smooth muscle cell migration
GO:0016310 phosphorylation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0030198 extracellular matrix organization
GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway
GO:0038083 peptidyl-tyrosine autophosphorylation
GO:0043583 ear development
GO:0044319 wound healing, spreading of cells
GO:0046777 protein autophosphorylation
GO:0060444 branching involved in mammary gland duct morphogenesis
GO:0060749 mammary gland alveolus development
GO:0061302 smooth muscle cell-matrix adhesion
GO:0061564 axon development
GO:1990138 neuron projection extension

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043235 receptor complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF210805 - JP 2014500723-A/18308: Polycomb-Associated Non-Coding RNAs.
AK291621 - Homo sapiens cDNA FLJ75091 complete cds, highly similar to Homo sapiens discoidin domain receptor family, member 1 (DDR1),transcript variant 2, mRNA.
BC008716 - Homo sapiens discoidin domain receptor tyrosine kinase 1, mRNA (cDNA clone MGC:8681 IMAGE:2964574), complete cds.
BC013400 - Homo sapiens discoidin domain receptor tyrosine kinase 1, mRNA (cDNA clone MGC:3909 IMAGE:2964574), complete cds.
L20817 - Homo sapiens tyrosine protein kinase (CAK) gene, complete cds.
L57508 - Homo sapiens Cak receptor kinase mRNA, complete cds.
BC070070 - Homo sapiens discoidin domain receptor tyrosine kinase 1, mRNA (cDNA clone MGC:87336 IMAGE:5262509), complete cds.
AB210021 - Homo sapiens mRNA for DDR1 variant protein, clone: fk11093.
L11315 - Homo sapiens receptor tyrosine kinase mRNA, complete cds.
AK294793 - Homo sapiens cDNA FLJ56035 complete cds, highly similar to Epithelial discoidin domain-containing receptor 1 precursor (EC 2.7.10.1).
AK295643 - Homo sapiens cDNA FLJ54797 complete cds, highly similar to Epithelial discoidin domain-containing receptor 1 precursor (EC 2.7.10.1).
Z29093 - H.sapiens EDDR1 gene for receptor tyrosine kinase.
X74979 - H.sapiens TRK E mRNA.
JD075742 - Sequence 56766 from Patent EP1572962.
EU826614 - Homo sapiens soluble DDR1 variant 2 (DDR1) mRNA, complete cds, alternatively spliced.
EU826613 - Homo sapiens soluble DDR1 variant 1 (DDR1) mRNA, complete cds, alternatively spliced.
CU687028 - Synthetic construct Homo sapiens gateway clone IMAGE:100022861 5' read DDR1 mRNA.
AB463012 - Synthetic construct DNA, clone: pF1KB2260, Homo sapiens DDR1 gene for discoidin domain receptor tyrosine kinase 1, without stop codon, in Flexi system.
KJ896529 - Synthetic construct Homo sapiens clone ccsbBroadEn_05923 DDR1 gene, encodes complete protein.
LF341301 - JP 2014500723-A/148804: Polycomb-Associated Non-Coding RNAs.
AK130776 - Homo sapiens cDNA FLJ27266 fis, clone TMS00356, highly similar to Epithelial discoidin domain receptor 1 precursor (EC 2.7.1.112).
LF341299 - JP 2014500723-A/148802: Polycomb-Associated Non-Coding RNAs.
AF353182 - Homo sapiens discoidin domain receptor DDR1d (DDR1) mRNA, partial cds, alternatively spliced.
AF353183 - Homo sapiens discoidin domain receptor DDR1e (DDR1) mRNA, partial cds, alternatively spliced.
LF341297 - JP 2014500723-A/148800: Polycomb-Associated Non-Coding RNAs.
JD052337 - Sequence 33361 from Patent EP1572962.
LF341296 - JP 2014500723-A/148799: Polycomb-Associated Non-Coding RNAs.
JD193042 - Sequence 174066 from Patent EP1572962.
JD174498 - Sequence 155522 from Patent EP1572962.
JD156428 - Sequence 137452 from Patent EP1572962.
JD218441 - Sequence 199465 from Patent EP1572962.
JD155244 - Sequence 136268 from Patent EP1572962.
JD112692 - Sequence 93716 from Patent EP1572962.
JD547231 - Sequence 528255 from Patent EP1572962.
JD448039 - Sequence 429063 from Patent EP1572962.
JD460373 - Sequence 441397 from Patent EP1572962.
JD508253 - Sequence 489277 from Patent EP1572962.
JD200513 - Sequence 181537 from Patent EP1572962.
JD537942 - Sequence 518966 from Patent EP1572962.
JD405714 - Sequence 386738 from Patent EP1572962.
JD387885 - Sequence 368909 from Patent EP1572962.
JD117888 - Sequence 98912 from Patent EP1572962.
JD353717 - Sequence 334741 from Patent EP1572962.
JD544426 - Sequence 525450 from Patent EP1572962.
JD434185 - Sequence 415209 from Patent EP1572962.
JD294504 - Sequence 275528 from Patent EP1572962.
JD555541 - Sequence 536565 from Patent EP1572962.
JD128731 - Sequence 109755 from Patent EP1572962.
JD387522 - Sequence 368546 from Patent EP1572962.
JD539743 - Sequence 520767 from Patent EP1572962.
JD470204 - Sequence 451228 from Patent EP1572962.
LF341295 - JP 2014500723-A/148798: Polycomb-Associated Non-Coding RNAs.
MA446382 - JP 2018138019-A/18308: Polycomb-Associated Non-Coding RNAs.
MA576878 - JP 2018138019-A/148804: Polycomb-Associated Non-Coding RNAs.
MA576876 - JP 2018138019-A/148802: Polycomb-Associated Non-Coding RNAs.
MA576874 - JP 2018138019-A/148800: Polycomb-Associated Non-Coding RNAs.
MA576873 - JP 2018138019-A/148799: Polycomb-Associated Non-Coding RNAs.
MA576872 - JP 2018138019-A/148798: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q08345 (Reactome details) participates in the following event(s):

R-HSA-2327738 DDR1 binds collagen type I, II, III, IV, V, XI fibrils
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: B5A975, B5A976, B7Z2K0, CAK, DDR1_HUMAN, EDDR1, ENST00000324771.1, ENST00000324771.10, ENST00000324771.11, ENST00000324771.2, ENST00000324771.3, ENST00000324771.4, ENST00000324771.5, ENST00000324771.6, ENST00000324771.7, ENST00000324771.8, ENST00000324771.9, L20817, NEP, NTRK4, PTK3A, Q08345, Q14196, Q16562, Q2L6H3, Q4LE50, Q5ST11, Q5ST12, Q6NSK4, Q9UD35, Q9UD36, Q9UD37, Q9UD86, Q9UDL2, RTK6, TRKE, uc317rsv.1, uc317rsv.2
UCSC ID: ENST00000324771.12_7
RefSeq Accession: NM_013993.3
Protein: Q08345 (aka DDR1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.