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Nefl neurofilament, light polypeptide [ Mus musculus (house mouse) ]

Gene ID: 18039, updated on 9-Sep-2018

Summary

Official Symbol
Neflprovided by MGI
Official Full Name
neurofilament, light polypeptideprovided by MGI
Primary source
MGI:MGI:97313
See related
Ensembl:ENSMUSG00000022055 Vega:OTTMUSG00000016377
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Nfl; NF-L; NF68; CMT2E; AI847934
Expression
Biased expression in cerebellum adult (RPKM 173.8), cortex adult (RPKM 78.3) and 5 other tissues See more
Orthologs

Genomic context

See Nefl in Genome Data Viewer
Location:
14; 14 D1
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 14 NC_000080.6 (68083884..68087745)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 14 NC_000080.5 (68701941..68705802)

Chromosome 14 - NC_000080.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 41189 Neighboring gene predicted gene, 31107 Neighboring gene solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3 pseudogene Neighboring gene RIKEN cDNA A230070E04 gene Neighboring gene neurofilament, medium polypeptide

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
identical protein binding ISO
Inferred from Sequence Orthology
more info
 
phospholipase binding ISO
Inferred from Sequence Orthology
more info
 
protein C-terminus binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IDA
Inferred from Direct Assay
more info
PubMed 
protein domain specific binding ISO
Inferred from Sequence Orthology
more info
 
protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
 
structural constituent of cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
structural constituent of postsynaptic intermediate filament cytoskeleton IMP
Inferred from Mutant Phenotype
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anterograde axonal transport ISO
Inferred from Sequence Orthology
more info
 
axon development IEA
Inferred from Electronic Annotation
more info
 
axonal transport of mitochondrion ISO
Inferred from Sequence Orthology
more info
 
intermediate filament bundle assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
intermediate filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
intermediate filament organization ISO
Inferred from Sequence Orthology
more info
 
intermediate filament polymerization or depolymerization ISO
Inferred from Sequence Orthology
more info
 
locomotion IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurofilament bundle assembly ISO
Inferred from Sequence Orthology
more info
 
neurofilament cytoskeleton organization IGI
Inferred from Genetic Interaction
more info
PubMed 
neurofilament cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
peripheral nervous system axon regeneration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein polymerization ISO
Inferred from Sequence Orthology
more info
 
regulation of axon diameter IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to sodium arsenite ISO
Inferred from Sequence Orthology
more info
 
retrograde axonal transport ISO
Inferred from Sequence Orthology
more info
 
synapse maturation IDA
Inferred from Direct Assay
more info
PubMed 
synapse maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
colocalizes_with TSC1-TSC2 complex ISO
Inferred from Sequence Orthology
more info
 
axon IDA
Inferred from Direct Assay
more info
PubMed 
axon ISO
Inferred from Sequence Orthology
more info
 
cholinergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
cholinergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
growth cone ISO
Inferred from Sequence Orthology
more info
 
intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
myelin sheath IDA
Inferred from Direct Assay
more info
PubMed 
neurofilament IDA
Inferred from Direct Assay
more info
PubMed 
neurofilament ISO
Inferred from Sequence Orthology
more info
 
neuromuscular junction IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with neuron projection ISO
Inferred from Sequence Orthology
more info
 
postsynaptic intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
presynaptic intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
neurofilament light polypeptide
Names
68 kDa neurofilament protein
neurofilament triplet L protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_010910.2NP_035040.1  neurofilament light polypeptide

    See identical proteins and their annotated locations for NP_035040.1

    Status: VALIDATED

    Source sequence(s)
    AC154687, AK149219, BC029203, BE952212
    Consensus CDS
    CCDS27232.1
    UniProtKB/Swiss-Prot
    P08551
    Related
    ENSMUSP00000022639.7, OTTMUSP00000017610, ENSMUST00000022639.7
    Conserved Domains (2) summary
    pfam00038
    Location:89400
    Filament; Intermediate filament protein
    pfam04732
    Location:988
    Filament_head; Intermediate filament head (DNA binding) region

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000080.6 Reference GRCm38.p4 C57BL/6J

    Range
    68083884..68087745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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