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Cntn1 Gene Detail
Summary
  • Symbol
    Cntn1
  • Name
    contactin 1
  • Synonyms
    CNTN, F3cam, usl
  • Feature Type
    protein coding gene
  • IDs
    MGI:105980
    NCBI Gene: 12805
  • Alliance
  • Transcription Start Sites
    20 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:91949034-92239834 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 15, 46.39 cM, cytoband F
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2866 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105980
protein coding gene Chr15:91949034-92239848 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022251
protein coding gene Chr15:93396213-93704859 (+)
A/J MGP_AJ_G0022210
protein coding gene Chr15:89787595-90099008 (+)
AKR/J MGP_AKRJ_G0022185
protein coding gene Chr15:92456181-92757477 (+)
BALB/cJ MGP_BALBcJ_G0022216
protein coding gene Chr15:89911275-90203872 (+)
C3H/HeJ MGP_C3HHeJ_G0021986
protein coding gene Chr15:92458896-92766746 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022661
protein coding gene Chr15:96786122-97117390 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020187
protein coding gene Chr15:85895841-86189547 (+)
CAST/EiJ MGP_CASTEiJ_G0021508
protein coding gene Chr15:93269513-93588126 (+)
CBA/J MGP_CBAJ_G0021953
protein coding gene Chr15:100094345-100449188 (+)
DBA/2J MGP_DBA2J_G0022080
protein coding gene Chr15:89237025-89531236 (+)
FVB/NJ MGP_FVBNJ_G0022059
protein coding gene Chr15:88263944-88557541 (+)
LP/J MGP_LPJ_G0022151
protein coding gene Chr15:93570961-93880676 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022079
protein coding gene Chr15:104445473-104784796 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022676
protein coding gene Chr15:92552162-92864864 (+)
PWK/PhJ MGP_PWKPhJ_G0021249
protein coding gene Chr15:89277733-89582374 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021083
protein coding gene Chr15:92296235-92606374 (+)
WSB/EiJ MGP_WSBEiJ_G0021557
protein coding gene Chr15:93016543-93331143 (+)



Homology
more
  • Human Ortholog
    CNTN1, contactin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CNTN1, contactin 1
  • Synonyms
    CMYP12, F3, GP135, MYPCN
  • Links
    NCBI Gene ID: 1272
    neXtProt AC: NX_Q12860
    UniProt: Q12860

  • Chr Location
    12q12; chr12:40692439-41072415 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with Cntn1 mouse models; 1 with human CNTN1 associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 3 alleles in 4 genetic backgrounds
    43 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.
Mutations of this gene result in growth retardation, progressive ataxia and death prior to weaning. A targeted null mutation, but not a spontaneous mutation, causes a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cellaxon morphology.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12805 NCBI Gene Model | MGI Sequence Detail 290801 C57BL/6J ±  kb
    transcript NM_007727 RefSeq | MGI Sequence Detail 5865 ZRU/MplStud  
    polypeptide P12960 UniProt | EBI | MGI Sequence Detail 1020 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 2
      cDNA 24
      Primer pair 5
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-33660, MGD-MRK-9694, MGI:2146221, MGI:5286077
    References
    more
    • Summaries
      All 124
      Developmental Gene Expression 31
      Diseases 2
      Gene Ontology 10
      Phenotypes 43
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:342018 Ogawa Y, et al., Antibody-directed extracellular proximity biotinylation reveals that Contactin-1 regulates axo-axonic innervation of axon initial segments. Nat Commun. 2023 Oct 26;14(1):6797

    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)
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory