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Cntn1
Gene Detail
Symbol

Name
ID
Cntn1
contactin 1
MGI:105980
Synonyms
CNTN, F3cam, usl
Feature Type
protein coding gene
Genetic Map
Chromosome 15
46.39 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr15:92051165-92341953 bp, + strand
From VEGA annotation of GRCm38

  290789 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7274  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CNTN1
Gene Tree: Cntn1

Human
homologs
CNTN1, contactin 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1272
neXtProt AC: NX_Q12860

Human Synonyms: F3, GP135, MYPCN

Human Chr (Location): 12q11-q12; chr12:40692442-41072412 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CNTN1

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(1) Radiation induced(1) Spontaneous(2) Targeted(3)
Genomic Mutations involving Cntn1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Cntn1 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(2)
Interactions
Cntn1 interacts with 401 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process cell adhesion, cerebellum development, ...
Component anchored component of membrane, extracellular exosome, ...
Function carbohydrate binding, glycoprotein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (17 records)
Data Summary: Results (495)    Tissues (184)    Images (42)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RNA in situ 455
RT-PCR 36
RNase protection 3
cDNA source data(20)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA CNTN1 ; Xenbase cntn1 ; ZFIN cntn1a, cntn1b    NEW 
Molecular
reagents
All nucleic(27) Genomic(2) cDNA(21) Primer pair(4)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000014988 (Evidence)
Ensembl Gene Model ENSMUSG00000055022 (Evidence)
Entrez Gene 12805 (Evidence)
DFCI TC1583100, TC1593148, TC1597628, TC1636116, TC1671082
DoTS DT.101150259, DT.101718408, DT.110811325, DT.97404357, DT.99849974
NIA Mouse Gene Index U016587
Consensus CDS Project CCDS27763.1
International Mouse Phenotyping Consortium Status Cntn1
Sequences
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 sequences
All sequences(56) RefSeq(8) UniProt(3)
Polymorphisms
RFLP(1) : SNPs within 2kb(2884 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003961 Fibronectin, type III
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003599 Immunoglobulin subtype
InterPro IPR003598 Immunoglobulin subtype 2
Protein Ontology PR:000005666 contactin-1
References
(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:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(74)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-33660, MGD-MRK-9694, MGI:2146221, MGI:5286077

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory