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Nefl
Gene Detail
Symbol

Name
ID
Nefl
neurofilament, light polypeptide
MGI:97313
STS
Synonyms
CMT2E, NF68, Nfl, NF-L
Feature Type
protein coding gene
Genetic Map
Chromosome 14
35.46 cM, cytoband D3
Detailed Genetic Map ± 1 cM


Mapping data(24)
Sequence Map
Chr14:68083863-68089095 bp, + strand
From VEGA annotation of GRCm38

  5233 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4487  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: NEFL
Gene Tree: Nefl

Human
homologs
NEFL, neurofilament, light polypeptide
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4747
neXtProt AC: NX_P07196

Human Synonyms: CMT1F, CMT2E, NF68, NFL, NF-L, PPP1R110

Human Chr (Location): 8p21; chr8:24950955-24956869 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human NEFL

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(3) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruptions of this gene lack neurofilaments in their axons and have motor axons that are reduced in both size and number.
 
Mutations Annotated to Human Diseases (2)   
Interactions
Nefl interacts with 308 markers (Mir7-1, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (52 annotations)
Process anterograde axon cargo transport, axon transport of mitochondrion, ...
Component axon, cytoplasm, ...
Function identical protein binding, phospholipase binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (96 records)
Data Summary: Results (780)    Tissues (163)    Images (73)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 22
RNA in situ 673
Western blot 4
RT-PCR 81
cDNA source data(95)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA NEFL ; Xenbase nefl    NEW 
Molecular
reagents
All nucleic(121) Genomic(14) cDNA(98) Primer pair(4) Other(5)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000016377 (Evidence)
Ensembl Gene Model ENSMUSG00000022055 (Evidence)
Entrez Gene 18039 (Evidence)
UniGene 1956
DFCI TC1577351, TC1607814
DoTS DT.110781415, DT.491108, DT.99856817
NIA Mouse Gene Index U015801
Consensus CDS Project CCDS27232.1
International Mouse Phenotyping Consortium Status Nefl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016377 VEGA Gene Model | MGI Sequence Detail 5233 C57BL/6J ±  kb
transcript OTTMUST00000039417 VEGA | MGI Sequence Detail 3380 Not Applicable 
polypeptide OTTMUSP00000017610 VEGA | MGI Sequence Detail 543 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(2) UniProt(2)
Polymorphisms
All PCR and RFLP(5) : PCR(4) RFLP(1) SNPs within 2kb(71 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006821 Intermediate filament head, DNA-binding domain
InterPro IPR001664 Intermediate filament protein
InterPro IPR018039 Intermediate filament protein, conserved site
Protein Ontology PR:000011119 neurofilament light polypeptide
References
(Earliest) J:7739 Lewis SA, et al., Genetics, evolution, and expression of the 68,000-mol-wt neurofilament protein: isolation of a cloned cDNA probe. J Cell Biol. 1985 Mar;100(3):843-50
(Latest) J:221340 Messeant J, et al., MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance. J Neurosci. 2015 Mar 25;35(12):4926-41
All references(221)
Other
accession IDs
MGD-MRK-12831, MGI:2145696

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
06/23/2015
MGI 5.22
The Jackson Laboratory