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Ddr1 Gene Detail
Summary
  • Symbol
    Ddr1
  • Name
    discoidin domain receptor family, member 1
  • Synonyms
    Cak, CD167a
  • Feature Type
    protein coding gene
  • IDs
    MGI:99216
    NCBI Gene: 12305
  • Gene Overview
    MyGene.info: DDR1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr17:35681567-35704621 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      23055 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 18.70 cM, cytoband C
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    DDR1, discoidin domain receptor tyrosine kinase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DDR1, discoidin domain receptor tyrosine kinase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAK, CD167, DDR, EDDR1, HGK2, MCK10, NEP, NTRK4, PTK3, PTK3A, RTK6, TRKE
  • Links
    NCBI Gene ID: 780
    neXtProt AC: NX_Q08345
    UniProt: Q08345

  • Chr Location
    6p21.33; chr6:30880909-30900156 (+)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 2 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutant mice are viable but smaller than control mice. Most mutant females are not able to give birth because developing blastocysts fail to implant. Successfully reproducing females show a lactation defect which is attributed to hyperproliferation and aberrant branching of mammary ducts.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    54
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    106
  • Tissues
    66
  • cDNA Data
    203
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000031017 VEGA Gene Model | MGI Sequence Detail 23055 C57BL/6J ±  kb
    transcript OTTMUST00000076831 VEGA | MGI Sequence Detail 3769 Not Applicable  
    polypeptide OTTMUSP00000040508 VEGA | MGI Sequence Detail 911 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      5 from dbSNP Build 142
    • RFLP
      1
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • EC
      2.7.10.1
    • InterPro Domains
      IPR000421 Coagulation factor 5/8 C-terminal domain
      IPR029553 Epithelial discoidin domain-containing receptor 1
      IPR008979 Galactose-binding-like domain superfamily
      IPR000719 Protein kinase domain
      IPR011009 Protein kinase-like domain superfamily
      IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
      IPR008266 Tyrosine-protein kinase, active site
      IPR020635 Tyrosine-protein kinase, catalytic domain
      IPR002011 Tyrosine-protein kinase, receptor class II, conserved site
    Molecular
    Reagents
    less
    • All nucleic 210
      Genomic 3
      cDNA 206
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-15973, MGD-MRK-28168, MGI:2146824
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 11
      Gene Ontology 11
      Phenotypes 27
    • Earliest
      J:3319 Gilardi-Hebenstreit P, et al., An Eph-related receptor protein tyrosine kinase gene segmentally expressed in the developing mouse hindbrain [published erratum appears in Oncogene 1993 Apr;8(4):1103]. Oncogene. 1992 Dec;7(12):2499-506
    • Latest
      J:254400 Coelho NM, et al., Discoidin Domain Receptor 1 Mediates Myosin-Dependent Collagen Contraction. Cell Rep. 2017 Feb 14;18(7):1774-1790
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    05/15/2018
    MGI 6.12     		The Jackson Laboratory