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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
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
  • 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: HGNC, HomoloGene
  • Synonyms
    CAK, CD167, DDR, EDDR1, HGK2, MCK10, NEP, NTRK4, PTK3, PTK3A, RTK6, TRKE
  • Links
    NCBI Gene ID: 780
    neXtProt AC: NX_Q08345

  • Chr Location
    6p21.3; chr6:30880909-30900156 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 2 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    23 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.
  • All Mutations and Alleles
    10
  • Gene trapped
    5
  • Targeted
    5
  • Genomic Mutations
    1 involving Ddr1
  • Incidental Mutations
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
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    5 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    12 Sequences
  • Protein Ontology
    PR:000001445 discoidin domain-containing receptor 1
  • EC
  • InterPro Domains
    IPR000421 Coagulation factor 5/8 C-terminal domain
    IPR029553 Discoidin domain-containing receptor
    IPR008979 Galactose-binding domain-like
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    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
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  • All nucleic 210
    Genomic 3
    cDNA 206
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-15973, MGD-MRK-28168, MGI:2146824
References
more
  • Summaries
    All 74
    Developmental Gene Expression 11
    Gene Ontology 11
    Phenotypes 23
  • 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:209434 Rubel D, et al., Collagen receptors integrin alpha2beta1 and discoidin domain receptor 1 regulate maturation of the glomerular basement membrane and loss of integrin alpha2beta1 delays kidney fibrosis in COL4A3 knockout mice. Matrix Biol. 2014 Feb;34:13-21

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory