ENSMUSG00000026442


Mus musculus

Features
Gene ID: ENSMUSG00000026442
  
Biological name :Nfasc
  
Synonyms : Neurofascin / Nfasc / Q810U3
  
Possible biological names infered from orthology : O94856
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: E4
Gene start: 132564690
Gene end: 132741797
  
Corresponding Affymetrix probe sets: 10357736 (MoGene1.0st)   1436205_at (Mouse Genome 430 2.0 Array)   1456068_at (Mouse Genome 430 2.0 Array)   1459357_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000092148
Ensembl peptide - ENSMUSP00000035454
Ensembl peptide - ENSMUSP00000132979
Ensembl peptide - ENSMUSP00000140480
Ensembl peptide - ENSMUSP00000139955
Ensembl peptide - ENSMUSP00000139520
NCBI entrez gene - 269116     See in Manteia.
MGI - MGI:104753
RefSeq - XM_017320912
RefSeq - XM_011248026
RefSeq - XM_017320885
RefSeq - XM_017320887
RefSeq - XM_017320894
RefSeq - XM_017320897
RefSeq - XM_017320900
RefSeq - XM_017320902
RefSeq - XM_017320903
RefSeq - XM_017320907
RefSeq - XM_017320911
RefSeq - NM_001160316
RefSeq - NM_001160317
RefSeq - NM_001160318
RefSeq - NM_182716
RefSeq - XM_006529634
RefSeq - XM_006529635
RefSeq - XM_006529639
RefSeq - XM_006529644
RefSeq - XM_006529646
RefSeq - XM_006529651
RefSeq - XM_006529653
RefSeq - XM_011248011
RefSeq - XM_011248012
RefSeq - XM_011248013
RefSeq - XM_011248014
RefSeq - XM_011248015
RefSeq - XM_011248016
RefSeq - XM_011248017
RefSeq - XM_011248018
RefSeq - XM_011248019
RefSeq - XM_011248020
RefSeq - XM_011248021
RefSeq - XM_011248023
RefSeq - XM_011248024
RefSeq - XM_011248025
RefSeq Peptide - NP_001153789
RefSeq Peptide - NP_001153790
RefSeq Peptide - NP_874385
RefSeq Peptide - NP_001153788
swissprot - A0A087WNW2
swissprot - E9Q171
swissprot - Q810U3
swissprot - E9PW06
swissprot - A0A087WR56
swissprot - A0A087WPX3
Ensembl - ENSMUSG00000026442
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CU234171.1ENSDARG00000056910Danio rerio
 nfascaENSDARG00000061099Danio rerio
 NFASCENSGALG00000031776Gallus gallus
 NFASCENSG00000163531Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nrcam / Q810U4 / Neuronal cell adhesion molecule / Q92823*ENSMUSG0000002059847
Chl1 / P70232 / Neural cell adhesion molecule L1-like protein Processed neural cell adhesion molecule L1-like protein / O00533* / cell adhesion molecule L1 like*ENSMUSG0000003007735
L1cam / L1 cell adhesion molecule / P32004*ENSMUSG0000003139135
Cntn3 / Q07409 / Contactin-3 / Q9P232*ENSMUSG0000003007521
Cntn5 / P68500 / Contactin-5 / O94779*ENSMUSG0000003948821
Cntn1 / P12960 / Mus musculus contactin 1 (Cntn1), transcript variant 4, mRNA. / Q12860* / contactin 1*ENSMUSG0000005502221
Cntn4 / Q69Z26 / Contactin-4 / Q8IWV2*ENSMUSG0000006429321
Cntn6 / Q9JMB8 / Contactin-6 / Q9UQ52*ENSMUSG0000003009220
Cntn2 / Q61330 / Contactin-2 / Q02246*ENSMUSG0000005302420


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
 IPR026965  Neurofascin
 IPR026966  Neurofascin/L1/NrCAM, C-terminal domain
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002175 protein localization to paranode region of axon IMP
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0007422 peripheral nervous system development IEA
 biological_processGO:0019226 transmission of nerve impulse IEA
 biological_processGO:0030913 paranodal junction assembly IMP
 biological_processGO:0034113 heterotypic cell-cell adhesion IEA
 biological_processGO:0042552 myelination IEA
 biological_processGO:0045162 clustering of voltage-gated sodium channels IMP
 biological_processGO:0050808 synapse organization IEA
 biological_processGO:0071205 protein localization to juxtaparanode region of axon IMP
 biological_processGO:0072659 protein localization to plasma membrane IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0033010 paranodal junction IDA
 cellular_componentGO:0033270 paranode region of axon IDA
 cellular_componentGO:0043194 axon initial segment IEA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:0097454 Schwann cell microvillus IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0086080 protein binding involved in heterotypic cell-cell adhesion IGI


Pathways (from Reactome)
Pathway description
Neurofascin interactions
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000753 paralysis "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp,Nrcamtm1Gmt/Nrcamtm1Gmt
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * ICR

 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]
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Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nfasctm2Bhat/Nfasctm2Bhat,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Nfasctm2Bhat/Nfasctm2Bhat,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nfasctm2Bhat/Nfasctm2Bhat,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.2Brp,Tg(Thy1-cre/ERT2)#Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Nfasctm1.1Brp/Nfasctm1.2Brp,Tg(Thy1-cre/ERT2)#Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
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Allelic Composition: Aurkatm1.2Tvd/Aurkatm1.2Tvd
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
Show

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.2Brp,Tg(Thy1-cre/ERT2)#Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001552 increased circulating triglyceride level "higher than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:65416]
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Allelic Composition: Myoz1tm1a(EUCOMM)Hmgu/Myoz1tm1a(EUCOMM)Hmgu
Genetic Background: Not Specified

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
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Allelic Composition: Aurkatm1.2Tvd/Aurkatm1.2Tvd
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Tg(Mpz-cre)26Mes/?
Genetic Background: involves: FVB/N

 MP:0002578 impaired ability to fire action potentials "anomaly resulting in reduced changes in membrane potentials occurring in nerve or other excitable tissue when excitation occurs" [J:51377, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nfasctm1.1Brp/Nfasctm1.2Brp,Tg(Thy1-cre/ERT2)#Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002651 abnormal sciatic nerve "malformation, absence or misprojection of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Socs2tm1Wehi/Socs2tm1Wehi
Genetic Background: C57BL/6-Socs2tm1Wehi

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp,Tg(Plp1-Nfasc*)1Brp/0
Genetic Background: B6.Cg-Nfasctm1.1Brp Tg(Plp1-Nfasc*)1Brp

 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: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.2Brp,Tg(Thy1-cre/ERT2)#Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp,Tg(Plp1-Nfasc*)1Brp/0
Genetic Background: B6.Cg-Nfasctm1.1Brp Tg(Plp1-Nfasc*)1Brp

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp,Tg(Plp1-Nfasc)2Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp,Tg(Nefl-Nfasc)1Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Tg(Plp1-cre/ERT)3Pop/?
Genetic Background: involves: C57BL/6 * DBA/2

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp,Nrcamtm1Gmt/Nrcamtm1Gmt
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * ICR

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp
Genetic Background: involves: 129P2/OlaHsd * ICR

 MP:0008814 reduced nerve conduction velocity "decrease in the rate at which an eletrical impulse travels through a nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Socs2tm1Wehi/Socs2tm1Wehi
Genetic Background: C57BL/6-Socs2tm1Wehi

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Tg(Mpz-cre)26Mes/?
Genetic Background: involves: FVB/N

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Tg(Plp1-cre/ERT)3Pop/?
Genetic Background: involves: C57BL/6 * DBA/2

 MP:0008917 abnormal oligodendrocyte physiology "any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600]
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Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp,Tg(Plp1-Nfasc*)1Brp/0
Genetic Background: B6.Cg-Nfasctm1.1Brp Tg(Plp1-Nfasc*)1Brp

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp,Tg(Nefl-Nfasc)1Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
Show

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.2Brp,Tg(Thy1-cre/ERT2)#Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010733 abnormal axon initial segment morphology "any structural anomaly of the short unmyelinated axon segment adjacent to the cell soma where voltage gated channels accumulate and axon potential initiation usually occurs" [PMID:18929652]
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Allelic Composition: Nfasctm1.1Brp/Nfasctm1.2Brp,Tg(Thy1-cre/ERT2)#Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010734 abnormal paranode morphology "any structural anomaly of the axon region immediately adjacent to nodes of Ranvier, where a series of cytoplasmic loops from the overlying glial cell form septate-like junctions with the axon; the axoglial junctions act as a diffusion barrier between the node and internode" [PMID:16224497]
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Allelic Composition: Nfasctm2Bhat/Nfasctm2Bhat,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nfasctm2Bhat/Nfasctm2Bhat,Tmem163Tg(ACTB-cre)2Mrt/0
Genetic Background: involves: FVB/N

 MP:0010735 abnormal paranodal axoglial junction morphology "any structural anomaly of the structure in which the myelin sheath attaches to the axon at each end of each myelin segment; the axoglial junctions act as a diffusion barrier between the node and internode, maintaining domain-specific axolemmal membrane components" [PMID:19224642]
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Allelic Composition: Nfasctm2Bhat/Nfasctm2Bhat,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
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Allelic Composition: Socs2tm1Wehi/Socs2tm1Wehi
Genetic Background: C57BL/6-Socs2tm1Wehi

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp,Tg(Nefl-Nfasc)1Brp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Nfasctm1Bhat/Nfasctm1Bhat,Cnptm1(cre)Kan/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nfasctm1.1Brp/Nfasctm1.1Brp
Genetic Background: involves: 129P2/OlaHsd * ICR

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000055022 Cntn1 / P12960 / Mus musculus contactin 1 (Cntn1), transcript variant 4, mRNA. / Q12860* / contactin 1*  / reaction / complex
 ENSMUSG00000020598 Nrcam / Q810U4 / Neuronal cell adhesion molecule / Q92823*  / complex / reaction
 ENSMUSG00000026442 Nfasc / Q810U3 / Neurofascin / O94856*  / reaction / complex
 ENSMUSG00000028249 Sdcbp / O08992 / syndecan binding protein / O00560*  / reaction / complex
 ENSMUSG00000031543 Ank1 / Q02357 / Ankyrin-1 / P16157*  / complex / reaction
 ENSMUSG00000017167 O54991 / Cntnap1 / Contactin-associated protein 1 / P78357*  / complex / reaction






 

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