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ENSG00000215522 Gene

protein-coding   GIFtS: 17
GCID: GC06Pn30838          (predicted)

ENSG00000215522


  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
EC 2.7.10.13 8     CD167a Antigen3
CAK3     Cell Adhesion Kinase3
EDDR13     Discoidin Receptor Tyrosine Kinase3
HGK23     Epithelial Discoidin Domain Receptor 13
MCK-103     Mammary Carcinoma Kinase 103
NEP3     Protein-Tyrosine Kinase 3A3
NTRK43     Protein-Tyrosine Kinase RTK-63
PTK3A3     TRK E3
RTK63     Tyrosine Kinase DDR3
TRKE3     Tyrosine-Protein Kinase CAK3
CD167 Antigen-Like Family Member A3     EC 2.7.108

External Ids:    Ensembl: ENSG000002155227   UniProtKB: Q083453   

Export aliases for ENSG00000215522 gene to outside databases

Previous GC identifer: GC06Pf30981


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ENSG00000215522 Gene:
ENSG00000215522 is a protein-coding gene. Diseases associated with ENSG00000215522 include rheumatoid arthritis, and arthritis.

UniProtKB/Swiss-Prot: DDR1_HUMAN, Q08345
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for ENSG00000215522
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000215522


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_QBLp21.33   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Pn30838:       (about GC identifiers)

Start:
30,838,342 bp from start of contig ALT_REF_LOCI_6      End:
30,857,525 bp from start of contig ALT_REF_LOCI_6
Size:
19,184 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DDR1_HUMAN, Q08345 (See protein sequence)
Recommended Name: Epithelial discoidin domain-containing receptor 1 precursor  
Size: 913 amino acids; 101128 Da
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
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;
4 PDB 3D structures from and Proteopedia for ENSG00000215522:
3ZOS (3D)        4AG4 (3D)        4BKJ (3D)        4CKR (3D)    
Secondary accessions: B5A975 B5A976 B7Z2K0 Q14196 Q16562 Q2L6H3 Q4LE50 Q5ST11 Q5ST12 Q6NSK4
Q9UD35 Q9UD36 Q9UD37 Q9UD86 Q9UDL2
Alternative splicing: 5 isoforms:  Q08345-1   Q08345-2   Q08345-4   Q08345-5   Q08345-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ENSG00000215522: NX_Q08345

Explore proteomics data for ENSG00000215522 at MOPED

Post-translational modifications: 

  • Autophosphorylated in response to fibrillar collagen binding1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ENSG00000215522 (Q08345) (see all 16)
     GDGAWCP  FVHRDLA  DPLCMIT  PPRGPGPP 


    See ENSG00000215522 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000383339   ENSP00000407068   ENSP00000383332   ENSP00000383338   ENSP00000383337  
     ENSP00000390043   ENSP00000397897   ENSP00000383336   ENSP00000400536   ENSP00000383334  
     ENSP00000403247   ENSP00000396139   ENSP00000449255   ENSP00000449238   ENSP00000448797  
    Reactome Protein details: Q08345

    ENSG00000215522 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom
     IPR011009 Kinase-like_dom
     IPR000421 Coagulation_fac_5/8-C_type_dom
     IPR002011 Tyr_kinase_rcpt_2_CS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q08345

    ProtoNet protein and cluster: Q08345

    3 Blocks protein domains:
    IPB000421 Coagulation factor 5/8 type C domain (FA58C)
    IPB002011 Receptor tyrosine kinase
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: DDR1_HUMAN, Q08345
    Domain: The Gly/Pro-rich domains may be required for an unusual geometry of interaction with ligand or substrates
    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


    ENSG00000215522 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DDR1_HUMAN, Q08345
    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

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity ----
    GO:0004714transmembrane receptor protein tyrosine kinase activity ----
    GO:0005515protein binding ----
    GO:0005518collagen binding ----
         
    ENSG00000215522 for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DDR1_HUMAN, Q08345: Isoform 1: Cell membrane; Single-pass type I membrane protein
    DDR1_HUMAN, Q08345: Isoform 2: Cell membrane; Single-pass type I membrane protein
    DDR1_HUMAN, Q08345: Isoform 3: Secreted (Potential)
    DDR1_HUMAN, Q08345: Isoform 4: Cell membrane; Single-pass type I membrane protein

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane ----

    ENSG00000215522 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for ENSG00000215522
        Non-integrin membrane-ECM interactions



    ENSG00000215522 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ENSG00000215522
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000215522

    Selected Interacting proteins for ENSG00000215522 (Q083451, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN11Q061241, 2, 3EBI-711879,EBI-297779 MINT-74883 MINT-74885 MINT-74882 MINT-8035995 I2D: score=3 
    NCK2O436391, 2, 3EBI-711879,EBI-713635 MINT-74881 MINT-74880 MINT-74879 I2D: score=2 
    RGS2P412202, 3MINT-8268735 MINT-63731 I2D: score=5 
    SNAPINO952952, 3MINT-64069 I2D: score=5 
    SNRNP40Q96DI72, 3MINT-64071 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth ----
    GO:0001952regulation of cell-matrix adhesion ----
    GO:0006468protein phosphorylation ----
    GO:0007155cell adhesion ----
    GO:0007566embryo implantation ----

    ENSG00000215522 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for ENSG00000215522 (DDR1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000473596 ENST00000400492(uc011iko.2) ENST00000480932 ENST00000435818
    ENST00000400484 ENST00000400491(uc011ikp.2) ENST00000400489(uc011ikn.2 uc011ikq.2)
    ENST00000418397 ENST00000434782 ENST00000490712(uc011iku.1) ENST00000400488(uc011ikm.2 uc011ikr.2 uc011ikx.2 uc011iky.2)
    ENST00000437449 ENST00000400486(uc011ikt.2) ENST00000484230 ENST00000414378
    ENST00000482283 ENST00000450117 ENST00000485860
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    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    ENSG00000215522 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000215522 Protein Expression

    UniProtKB/Swiss-Prot: DDR1_HUMAN, Q08345
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    ENSEMBL Gene Tree for ENSG00000215522 (if available)
    TreeFam Gene Tree for ENSG00000215522 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    6 diseases for ENSG00000215522:    
    About MalaCards
    rheumatoid arthritis    arthritis    ovarian cancer    melanoma
    thyroiditis    endotheliitis


    ENSG00000215522 for disorders           About GeneDecksing


    Export disorders for ENSG00000215522 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ENSG00000215522 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with ENSG00000215522)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the discoidin domain receptor 1 extracellular region bound to an inhibitory Fab fragment reveals features important for signaling. (PubMed id 22483115)2 Carafoli F.... Hohenester E. (Structure 2012)
    2. Collagen binding specificity of the discoidin domain receptors: binding sites on collagens II and III and molecular determinants for collagen IV recognition by DDR1. (PubMed id 21044884)2 Xu H....Leitinger B. (Matrix Biol. 2011)
    3. Collagen stimulates discoidin domain receptor 1-mediated migration of smooth muscle cells through Src. (PubMed id 20093046)2 Lu K.K.... Bendeck M.P. (Cardiovasc. Pathol. 2011)
    4. Discoidin domain receptor 1 regulates bronchial epithelial repair and matrix metalloproteinase production. (PubMed id 20884741)2 Roberts M.E.... Johnson S.R. (Eur. Respir. J. 2011)
    5. DDR1 regulates the stabilization of cell surface E-cadherin and E- cadherin-mediated cell aggregation. (PubMed id 20432435)2 Eswaramoorthy R.... Wang C.Z. (J. Cell. Physiol. 2010)
    6. The collagen receptor DDR1 regulates cell spreading and motility by associating with myosin IIA. (PubMed id 19401332)2 Huang Y.... Vogel W.F. (J. Cell Sci. 2009)
    7. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (Mol. Cell. Proteomics 2009)
    8. KIBRA interacts with discoidin domain receptor 1 to modulate collagen-induced signalling. (PubMed id 18190796)2 Hilton H.N.... Ormandy C.J. (Biochim. Biophys. Acta 2008)
    9. Novel splice variants derived from the receptor tyrosine kinase superfamily are potential therapeutics for rheumatoid arthritis. (PubMed id 18593464)2 Jin P.... Paleolog E.M. (Arthritis Res. Ther. 2008)
    10. Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (Nature 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Ensembl:ENSG00000215522

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    ATLAS Chromosomes in Cancer entry for ENSG00000215522 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ENSG00000215522 gene:
    Search GeneIP for patents involving ENSG00000215522

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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