ENSMUSG00000022055


Mus musculus

Features
Gene ID: ENSMUSG00000022055
  
Biological name :Nefl
  
Synonyms : Nefl / Neurofilament light polypeptide / P08551
  
Possible biological names infered from orthology : neurofilament light / P07196
  
Species: Mus musculus
  
Chr. number: 14
Strand: 1
Band: D1
Gene start: 68083863
Gene end: 68089095
  
Corresponding Affymetrix probe sets: 10416175 (MoGene1.0st)   1426255_at (Mouse Genome 430 2.0 Array)   1454672_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000022639
NCBI entrez gene - 18039     See in Manteia.
MGI - MGI:97313
RefSeq - NM_010910
RefSeq Peptide - NP_035040
swissprot - P08551
Ensembl - ENSMUSG00000022055
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 neflaENSDARG00000057568Danio rerio
 neflbENSDARG00000012426Danio rerio
 NEFLENSGALG00000000314Gallus gallus
 NEFLENSG00000277586Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nefm / neurofilament medium / P07197*ENSMUSG0000002205443
Ina / P46660 / internexin neuronal intermediate filament protein, alpha / Q16352*ENSMUSG0000003433642
Des / P31001 / Desmin / P17661*ENSMUSG0000002620838
Vim / P20152 / vimentin / P08670*ENSMUSG0000002672837
Prph / peripherin / P41219*ENSMUSG0000002348437
Nefh / P19246 / Neurofilament heavy polypeptide / P12036* / neurofilament heavy*ENSMUSG0000002039636
Gfap / P03995 / Glial fibrillary acidic protein / P14136*ENSMUSG0000002093234
Lmna / P48678 / Prelamin-A/C Lamin-A/C / P02545* / lamin A/C*ENSMUSG0000002806323
Lmnb1 / P14733 / Lamin-B1 / P20700*ENSMUSG0000002459023
Lmnb2 / P21619 / Lamin-B2 / Q03252*ENSMUSG0000006207523


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR006821  Intermediate filament head, DNA-binding domain
 IPR018039  Intermediate filament protein, conserved site
 IPR027692  Neurofilament light polypeptide


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000226 microtubule cytoskeleton organization IMP
 biological_processGO:0008089 anterograde axonal transport IEA
 biological_processGO:0008090 retrograde axonal transport IEA
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0014012 peripheral nervous system axon regeneration IMP
 biological_processGO:0019896 axonal transport of mitochondrion IEA
 biological_processGO:0021510 spinal cord development IEA
 biological_processGO:0021766 hippocampus development IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0031133 regulation of axon diameter IMP
 biological_processGO:0033693 neurofilament bundle assembly IEA
 biological_processGO:0040011 locomotion IMP
 biological_processGO:0043434 response to peptide hormone IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IMP
 biological_processGO:0045105 intermediate filament polymerization or depolymerization IEA
 biological_processGO:0045109 intermediate filament organization IEA
 biological_processGO:0045110 intermediate filament bundle assembly IGI
 biological_processGO:0048812 neuron projection morphogenesis IMP
 biological_processGO:0050772 positive regulation of axonogenesis IMP
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0051258 protein polymerization IEA
 biological_processGO:0051412 response to corticosterone IEA
 biological_processGO:0060052 neurofilament cytoskeleton organization IMP
 biological_processGO:0061564 axon development IEA
 biological_processGO:1903935 response to sodium arsenite IEA
 biological_processGO:1903937 response to acrylamide IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005882 intermediate filament IDA
 cellular_componentGO:0005883 neurofilament ISO
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0033596 TSC1-TSC2 complex IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0030674 protein binding, bridging IDA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0043274 phospholipase binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
Unblocking of NMDA receptor, glutamate binding and activation
CREB phosphorylation through the activation of CaMKII
Ras activation upon Ca2+ influx through NMDA receptor
RAF/MAP kinase cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

Allelic Composition: Nefltm2.1Liem/Nefl+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

 MP:0000848 abnormal pons "malformed band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:1776, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

 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]
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Allelic Composition: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

 MP:0000958 peripheral nervous system degeneration "a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000961 abnormal dorsal root ganglia morphology "malformed group of nerve cell bodies of each segmental nerve projecting from the spinal cord " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]
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Allelic Composition: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

Allelic Composition: Nefltm2.1Liem/Nefl+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Chattm1(cre/ERT)Nat/Chattm1(cre/ERT)Nat
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

 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: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

 MP:0003993 abnormal ventral spinal root morphology "any anomaly, deformity, or malformation of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * 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]
Show

Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Icostm1Tkan/Icostm1Tkan
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0008503 abnormal spinal cord gray matter morphology "any structural anomaly of the regions of the spinal cord that are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

 MP:0014062 nervous system inclusion bodies "nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system" [MGI:csmith]
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Allelic Composition: Nefltm1.1Liem/Nefltm1.1Liem
Genetic Background: B6.Cg-Nefltm1.1Liem

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020886 Dlg4 / Q62108 / Disks large homolog 4 / P78352* / discs large MAGUK scaffold protein 4*  / complex
 ENSMUSG00000025892 Gria4 / Q9Z2W8 / glutamate receptor, ionotropic, AMPA4 (alpha 4) / P48058* / glutamate ionotropic receptor AMPA type subunit 4*  / reaction
 ENSMUSG00000032356 P27671 / Rasgrf1 / RAS protein-specific guanine nucleotide-releasing factor 1 / Q13972*  / complex / reaction
 ENSMUSG00000025499 Hras / Q61411 / GTPase HRas GTPase HRas, N-terminally processed / P01112* / HRas proto-oncogene, GTPase*  / reaction
 ENSMUSG00000053819 Camk2d / Q6PHZ2 / Mus musculus calcium/calmodulin-dependent protein kinase II, delta (Camk2d), transcript variant 8, mRNA. / Q13557* / calcium/calmodulin dependent protein kinase II delta*  / reaction / complex
 ENSMUSG00000057897 Camk2b / P28652 / Calcium/calmodulin-dependent protein kinase type II subunit beta / Q13554* / calcium/calmodulin dependent protein kinase II beta*  / complex / reaction
 ENSMUSG00000001175 Calm1 / P0DP28 / P0DP26 / P0DP27 / Calmodulin-1 / P0DP23*  / complex / reaction
 ENSMUSG00000021820 Camk2g / Q923T9 / Calcium/calmodulin-dependent protein kinase type II subunit gamma / Q13555* / calcium/calmodulin dependent protein kinase II gamma*  / complex / reaction
 ENSMUSG00000020734 Grin2c / Q01098 / Glutamate receptor ionotropic, NMDA 2C / Q14957* / glutamate ionotropic receptor NMDA type subunit 2C*  / complex
 ENSMUSG00000026959 Grin1 / P35438 / Glutamate receptor ionotropic, NMDA 1 / Q05586* / glutamate ionotropic receptor NMDA type subunit 1*  / complex
 ENSMUSG00000002771 Grin2d / Q03391 / Glutamate receptor ionotropic, NMDA 2D / O15399* / glutamate ionotropic receptor NMDA type subunit 2D*  / complex
 ENSMUSG00000030209 Grin2b / glutamate receptor, ionotropic, NMDA2B (epsilon 2) / Q13224* / glutamate ionotropic receptor NMDA type subunit 2B*  / complex
 ENSMUSG00000052374 Actn2 / Q9JI91 / Alpha-actinin-2 / P35609* / actinin alpha 2*  / complex
 ENSMUSG00000024617 Camk2a / P11798 / Calcium/calmodulin-dependent protein kinase type II subunit alpha / Q9UQM7* / calcium/calmodulin dependent protein kinase II alpha*  / complex / reaction
 ENSMUSG00000059003 Grin2a / P35436 / Glutamate receptor ionotropic, NMDA 2A / Q12879* / glutamate ionotropic receptor NMDA type subunit 2A*  / complex
 ENSMUSG00000020524 Gria1 / P23818 / Glutamate receptor 1 / P42261* / glutamate ionotropic receptor AMPA type subunit 1*  / reaction
 ENSMUSG00000001986 Gria3 / Q9Z2W9 / Mus musculus glutamate receptor, ionotropic, AMPA3 (alpha 3) (Gria3), transcript variant 5, mRNA. / P42263* / glutamate ionotropic receptor AMPA type subunit 3*  / reaction






 

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