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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
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:35992459-36015513 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 18.70 cM, cytoband C
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99216
 protein coding gene Chr17:35992459-36015633 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023651
 protein coding gene Chr17:35866163-35889191 (-)
A/J MGP_AJ_G0023606
 protein coding gene Chr17:34759470-34782546 (-)
AKR/J MGP_AKRJ_G0023576
 protein coding gene Chr17:35188385-35211507 (-)
BALB/cJ MGP_BALBcJ_G0023611
 protein coding gene Chr17:34899329-34922259 (-)
C3H/HeJ MGP_C3HHeJ_G0023377
 protein coding gene Chr17:35647548-35670515 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024053
 protein coding gene Chr17:37335614-37359659 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021531
 protein coding gene Chr17:32457152-32479957 (-)
CAST/EiJ MGP_CASTEiJ_G0022868
 protein coding gene Chr17:35748511-35773111 (-)
CBA/J MGP_CBAJ_G0023355
 protein coding gene Chr17:38903214-38932796 (-)
DBA/2J MGP_DBA2J_G0023479
 protein coding gene Chr17:34070662-34094169 (-)
FVB/NJ MGP_FVBNJ_G0023450
 protein coding gene Chr17:33864587-33888409 (-)
LP/J MGP_LPJ_G0023559
 protein coding gene Chr17:36248286-36272900 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023471
 protein coding gene Chr17:37681839-37706267 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024096
 protein coding gene Chr17:35501974-35526054 (-)
PWK/PhJ MGP_PWKPhJ_G0022619
 protein coding gene Chr17:32924798-32948242 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022438
 protein coding gene Chr17:33536783-33562857 (-)
WSB/EiJ MGP_WSBEiJ_G0022934
 protein coding gene Chr17:35646567-35670771 (-)



Homology
more
  • Human Ortholog
    DDR1, discoidin domain receptor tyrosine kinase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DDR1, discoidin domain receptor tyrosine kinase 1
  • 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
    21 phenotypes from 3 alleles in 5 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    40 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
    59
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
protein-containing complex
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
    785
  • Tissues
    70
  • cDNA Data
    204
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000003534 Ensembl Gene Model | MGI Sequence Detail 23055 C57BL/6J ±  kb
    transcript ENSMUST00000119825 Ensembl | MGI Sequence Detail 3769 Not Applicable  
    polypeptide ENSMUSP00000113062 Ensembl | MGI Sequence Detail 911 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • Protein Ontology
      PR:000001445 discoidin domain-containing receptor 1
      (term hierarchy)
    • EC
      2.7.10.1
    • InterPro Domains
      IPR000421 Coagulation factor 5/8 C-terminal domain
      IPR034299 Discoidin domain-containing receptor 1/2
      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 211
      Genomic 3
      cDNA 207
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-15973, MGD-MRK-28168, MGI:2146824
    References
    more
    • Summaries
      All 99
      Developmental Gene Expression 12
      Gene Ontology 11
      Phenotypes 40
    • 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:313467 Kim JJ, et al., Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxicity in Alport syndrome. EBioMedicine. 2021 Jan;63:103162
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    06/28/2022
    MGI 6.20     		The Jackson Laboratory