Version 5.4
Mus musculus Gene: Nefh
Summary
InnateDB Gene IDBG-143699.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Nefh
Gene Name neurofilament, heavy polypeptide
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000020396
Encoded Proteins
IDBP-143701
neurofilament, heavy polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000100285:
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 heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:4938754-4948064
Strand Reverse strand
Band A1
Transcripts
ENSMUST00000093369 ENSMUSP00000091061
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
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:0019901 protein kinase binding
GO:0045735 nutrient reservoir activity
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0033693 neurofilament bundle assembly
GO:0045104 intermediate filament cytoskeleton organization
GO:0045110 intermediate filament bundle assembly
GO:0048936 peripheral nervous system neuron axonogenesis
GO:0060052 neurofilament cytoskeleton organization
GO:0061564 axon development
GO:1902513 regulation of organelle transport along microtubule
Cellular Component
GO:0005739 mitochondrion
GO:0005882 intermediate filament
GO:0005883 neurofilament
GO:0030424 axon
GO:0097418 neurofibrillary tangle
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000100285
View Gene Order
ENSBTAG00000013147
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu05014
Amyotrophic lateral sclerosis (ALS) pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa05014
Amyotrophic lateral sclerosis (ALS) pathway
INOH
PID NCI
Cross-References
SwissProt P19246
TrEMBL
UniProt Splice Variant
Entrez Gene 380684
UniGene Mm.298283 Mm.411058
RefSeq NM_010904
OMIM
CCDS CCDS36099
HPRD
IMGT
MGI ID MGI:97309
MGI Symbol Nefh
EMBL AL645522 EF101556 M23349 M24494 M24495 M24496 M35131 Z31012
GenPept AAA39809 AAA39813 ABK96805 CAA83229 CAI25933
RNA Seq Atlas 380684

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