Homo sapiens Gene: NEFH
Summary
InnateDB Gene IDBG-3622.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NEFH
Gene Name neurofilament, heavy polypeptide
Synonyms NFH;
Species Homo sapiens
Ensembl Gene ENSG00000100285
Encoded Proteins
neurofilament, heavy 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 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 22:29480230-29491390
Strand Forward strand
Band q12.2
Transcripts
ENST00000310624 ENSP00000311997
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [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:0005200 structural constituent of cytoskeleton
GO:0008017 microtubule binding
GO:0019894 kinesin binding
GO:0019901 protein kinase binding
GO:0030674 protein binding, bridging
GO:0045502 dynein binding
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0007409 axonogenesis
GO:0008219 cell death
GO:0030031 cell projection assembly
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:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005882 intermediate filament
GO:0005883 neurofilament
GO:0030424 axon
GO:0097418 neurofibrillary tangle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Amyotrophic lateral sclerosis (ALS) pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P12036
TrEMBL
UniProt Splice Variant
Entrez Gene 4744
UniGene Hs.198760 Hs.552813 Hs.605984
RefSeq NM_021076
HUGO HGNC:7737
OMIM 162230
CCDS CCDS13858
HPRD 01204
IMGT
EMBL AB020652 AC000035 AF203032 AK302660 BC008648 BC073969 X15306 X15307 X15308 X15309
GenPept AAF13722 AAH08648 AAH73969 BAA74868 BAG63896 CAA33366
RNA Seq Atlas 4744