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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
  • Gene Overview
    MyGene.info: CNTN1
Location & Maps
more
  • Sequence Map
    Chr15:92051165-92341953 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      290789 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 46.39 cM, cytoband F
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    CNTN1, contactin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CNTN1, contactin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    F3, GP135, MYPCN
  • Links
    NCBI Gene ID: 1272
    neXtProt AC: NX_Q12860

  • Chr Location
    12q12; chr12:40692442-41072412 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7274
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: CNTN1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Cntn1 mouse models; 1 with human CNTN1 associations

Human Disease Mouse Models
       Myopathy, Congenital, Compton-North; MYPCN   OMIM: 612540 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
    9 phenotypes from multigenic genotypes
    39 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
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    2
  • Spontaneous
    2
  • Targeted
    3
  • Transgenic
    1
  • Genomic Mutations
    3 involving Cntn1
  • Incidental Mutations
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
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 OTTMUSG00000014988 VEGA Gene Model | MGI Sequence Detail 290789 C57BL/6J ±  kb
transcript OTTMUST00000035588 VEGA | MGI Sequence Detail 5646 Not Applicable  
polypeptide OTTMUSP00000015953 VEGA | MGI Sequence Detail 1020 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2866 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 27
    Genomic 2
    cDNA 21
    Primer pair 4

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-33660, MGD-MRK-9694, MGI:2146221, MGI:5286077
References
more
  • Summaries
    All 74
    Developmental Gene Expression 19
    Diseases 2
    Gene Ontology 9
    Phenotypes 39
  • Earliest
    J:9923 Gennarini G, et al., The mouse neuronal cell surface protein F3: a phosphatidylinositol-anchored member of the immunoglobulin superfamily related to chicken contactin. J Cell Biol. 1989 Aug;109(2):775-88
  • Latest
    J:229257 Gu Z, et al., Expression of the immunoglobulin superfamily cell adhesion molecules in the developing spinal cord and dorsal root ganglion. PLoS One. 2015;10(3):e0121550

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