ENSMUSG00000055022


Mus musculus

Features
Gene ID: ENSMUSG00000055022
  
Biological name :Cntn1
  
Synonyms : Cntn1 / Mus musculus contactin 1 (Cntn1), transcript variant 4, mRNA. / P12960
  
Possible biological names infered from orthology : contactin 1 / Q12860
  
Species: Mus musculus
  
Chr. number: 15
Strand: 1
Band: E3
Gene start: 92051165
Gene end: 92341967
  
Corresponding Affymetrix probe sets: 10426397 (MoGene1.0st)   1449563_at (Mouse Genome 430 2.0 Array)   1452981_at (Mouse Genome 430 2.0 Array)   1459197_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000000109
Ensembl peptide - ENSMUSP00000067842
Ensembl peptide - ENSMUSP00000133063
NCBI entrez gene - 12805     See in Manteia.
MGI - MGI:105980
RefSeq - XM_017316422
RefSeq - NM_001159647
RefSeq - NM_001159648
RefSeq - NM_001358051
RefSeq - NM_007727
RefSeq Peptide - NP_001153120
RefSeq Peptide - NP_001344980
RefSeq Peptide - NP_031753
RefSeq Peptide - NP_001153119
swissprot - P12960
Ensembl - ENSMUSG00000055022
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cntn1aENSDARG00000087843Danio rerio
 cntn1bENSDARG00000045685Danio rerio
 CNTN1ENSGALG00000009523Gallus gallus
 CNTN1ENSG00000018236Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Cntn2 / Q61330 / Contactin-2 / Q02246*ENSMUSG0000005302450
Cntn5 / P68500 / Contactin-5 / O94779*ENSMUSG0000003948844
Cntn4 / Q69Z26 / Contactin-4 / Q8IWV2*ENSMUSG0000006429343
Cntn3 / Q07409 / Contactin-3 / Q9P232*ENSMUSG0000003007543
Cntn6 / Q9JMB8 / Contactin-6 / Q9UQ52*ENSMUSG0000003009241
L1cam / L1 cell adhesion molecule / P32004*ENSMUSG0000003139128
Nrcam / Q810U4 / Neuronal cell adhesion molecule / Q92823*ENSMUSG0000002059827
Chl1 / P70232 / Neural cell adhesion molecule L1-like protein Processed neural cell adhesion molecule L1-like protein / O00533* / cell adhesion molecule L1 like*ENSMUSG0000003007726
Nfasc / Q810U3 / Neurofascin / O94856*ENSMUSG0000002644225


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013151  Immunoglobulin
 IPR013783  Immunoglobulin-like fold
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily
 IPR036992  Contactin-1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010765 positive regulation of sodium ion transport IMP
 biological_processGO:0010976 positive regulation of neuron projection development IGI
 biological_processGO:0021549 cerebellum development IMP
 biological_processGO:0031175 neuron projection development IGI
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031225 anchored component of membrane IEA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:0045121 membrane raft IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030246 carbohydrate binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Cntn1m1J/Cntn1m1J
Genetic Background: B6;C-Cntn1m1J/GrsrJ

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: B6.MRL-Cntn1usl/GrsrJ

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Cntn1m1J/Cntn1m1J
Genetic Background: B6;C-Cntn1m1J/GrsrJ

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: B6.MRL-Cntn1usl/GrsrJ

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Cntn1m1J/Cntn1m1J
Genetic Background: B6;C-Cntn1m1J/GrsrJ

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: B6.MRL-Cntn1usl/GrsrJ

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0001524 impaired limb coordination "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:64962, MGI:CLS, J:17123]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0002961 abnormal axon guidance "defect in the signaling mechanisms that allow precise navigation and connections of axonal growth cones to effector tissues " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0004098 abnormal granule neuron "any structural anomaly of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0004263 abnormal limb posture "atypical position of the limbs compared to the normal carriage of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: B6.MRL-Cntn1usl/GrsrJ

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0009450 abnormal axon fasiculation "anomaly in the process by which axons form into bundles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0009512 abnormal cerebellar Golgi cell morphology "any structural anomaly of the population of large inhibitory GABAergic interneurons found in the cerebellar internal granule layer which act by altering the mossy fibre - granule cell synapse; the main synapse made by these cells is a synapse onto the mossy fibre - granule cell excitatory synapse in a glomerulus, which is composed of the mossy fibre terminal, granule cell dendrites, and golgi terminal and is enclosed by a glial coat" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0011083 complete lethality at weaning "premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food" [MGI:csmith]
Show

Allelic Composition: Cntn1m1J/Cntn1m1J
Genetic Background: B6;C-Cntn1m1J/GrsrJ

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: B6.MRL-Cntn1usl/GrsrJ

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: B6.MRL-Cntn1usl/GrsrJ

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Cntn1m1J/Cntn1m1J
Genetic Background: B6;C-Cntn1m1J/GrsrJ

 MP:0014085 stomach non-glandular epithelium hyperkeratosis "abnormal thickening of the stratum corneum in the stratified squamous epithelium lining the distinct rodent non-glandular region of the stomach, i.e. the forestomach (aka anterior or proximal stomach); hyperkeratosis frequently accompanies epithelial hyperplasia" [http://ntp.niehs.nih.gov/nnl/alimentary/forestomach/hyperker/stomach-forestomach-hyperkeratosis-pdf_508.pdf, MGI:Anna]
Show

Allelic Composition: Cntn1usl/Cntn1usl
Genetic Background: MRL/MpJ-Faslpr Cntn1usl/GrsrJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000017167 O54991 / Cntnap1 / Contactin-associated protein 1 / P78357*  / complex
 ENSMUSG00000026442 Nfasc / Q810U3 / Neurofascin / O94856*  / complex / reaction
 ENSMUSG00000026923 Notch1 / Q01705 / Neurogenic locus notch homolog protein 1 Notch 1 extracellular truncation Notch 1 intracellular domain / P46531*  / complex






 

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