Version 5.4
Homo sapiens Gene: NFASC
Summary
InnateDB Gene IDBG-106072.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NFASC
Gene Name neurofascin
Synonyms NF; NRCAML
Species Homo sapiens
Ensembl Gene ENSG00000163531
Encoded Proteins
IDBP-106074
neurofascin
IDBP-106082
neurofascin
IDBP-106092
neurofascin
IDBP-295553
neurofascin
IDBP-295452
neurofascin
IDBP-295307
neurofascin
IDBP-292401
neurofascin
IDBP-389940
neurofascin
IDBP-389941
neurofascin
IDBP-389942
neurofascin
IDBP-389943
neurofascin
IDBP-482971
neurofascin
IDBP-475950
neurofascin
IDBP-479435
neurofascin
IDBP-603667
neurofascin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:204828651-205022822
Strand Forward strand
Band q32.1
Transcripts
ENST00000367173 ENSP00000356141
ENST00000339876 ENSP00000344786
ENST00000360049 ENSP00000353154
ENST00000404977
ENST00000404076 ENSP00000385676
ENST00000401399 ENSP00000385637
ENST00000404907 ENSP00000384061
ENST00000403080 ENSP00000384875
ENST00000430393 ENSP00000415031
ENST00000425360 ENSP00000395664
ENST00000413225 ENSP00000393290
ENST00000447819 ENSP00000416891
ENST00000493914
ENST00000514644
ENST00000505079 ENSP00000427586
ENST00000513543 ENSP00000425908
ENST00000504476 ENSP00000422524
ENST00000504149
ENST00000512826
ENST00000471392
ENST00000468328
ENST00000495396
ENST00000492085
ENST00000503221
ENST00000539706 ENSP00000438614
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0086080 protein binding involved in heterotypic cell-cell adhesion
Biological Process
GO:0002175 protein localization to paranode region of axon
GO:0007411 axon guidance
GO:0007422 peripheral nervous system development
GO:0019226 transmission of nerve impulse
GO:0030913 paranodal junction assembly
GO:0034113 heterotypic cell-cell adhesion
GO:0042552 myelination
GO:0045162 clustering of voltage-gated sodium channels
GO:0050808 synapse organization
GO:0071205 protein localization to juxtaparanode region of axon
Cellular Component
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0033010 paranodal junction
GO:0033268 node of Ranvier
GO:0033270 paranode region of axon
GO:0043194 axon initial segment
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026442
View Gene Order
ENSBTAG00000045895
Not yet available
Pathways
NETPATH
REACTOME
REACT_22312
Neurofascin interactions pathway
REACT_22266
Interaction between L1 and Ankyrins pathway
REACT_22205
L1CAM interactions pathway
REACT_111045
Developmental Biology pathway
REACT_18266
Axon guidance pathway
KEGG
hsa04514
Cell adhesion molecules (CAMs) pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.13349 Hs.600878
RefSeq NM_001005388 NM_001005389 NM_001160331 NM_001160332 NM_001160333 NM_015090 XM_005244985 XM_005244986 XM_005244991 XM_005244992 XM_005244997 XM_006711231
HUGO
OMIM
CCDS CCDS30982 CCDS53460 CCDS53461 CCDS53462
HPRD 12372
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