Version 5.4
Homo sapiens Gene: NEFM
Summary
InnateDB Gene IDBG-12599.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NEFM
Gene Name neurofilament, medium polypeptide
Synonyms NEF3; NF-M; NFM
Species Homo sapiens
Ensembl Gene ENSG00000104722
Encoded Proteins
IDBP-12601
neurofilament, medium polypeptide
IDBP-364222
neurofilament, medium polypeptide
IDBP-364226
neurofilament, medium polypeptide
IDBP-475435
neurofilament, medium polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:24913012-24919098
Strand Forward strand
Band p21.2
Transcripts
ENST00000221166 ENSP00000221166
ENST00000437366 ENSP00000410137
ENST00000433454 ENSP00000412295
ENST00000523467
ENST00000518131 ENSP00000427872
ENST00000521540
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0008017 microtubule binding
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0008088 axon cargo transport
GO:0031133 regulation of axon diameter
GO:0033693 neurofilament bundle assembly
GO:0045104 intermediate filament cytoskeleton organization
GO:0045110 intermediate filament bundle assembly
GO:0060052 neurofilament cytoskeleton organization
Cellular Component
GO:0005882 intermediate filament
GO:0005883 neurofilament
GO:0030424 axon
GO:0031594 neuromuscular junction
GO:0043005 neuron projection
GO:0097418 neurofibrillary tangle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000022054
View Gene Order
ENSBTAG00000039530
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa05014
Amyotrophic lateral sclerosis (ALS) pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.458657 Hs.730072
RefSeq NM_001105541 NM_005382
HUGO
OMIM
CCDS CCDS47831 CCDS6046
HPRD 01205
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca