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Aliases for NFASC Gene

Aliases for NFASC Gene

  • Neurofascin 2 3
  • KIAA0756 4 6
  • Neurofascin Homolog (Chicken) 2
  • Neurofascin Homolog 3
  • NRCAML 3
  • NF 3

External Ids for NFASC Gene

Previous GeneCards Identifiers for NFASC Gene

  • GC01P202615
  • GC01P200351
  • GC01P201158
  • GC01P202067
  • GC01P201645
  • GC01P203064
  • GC01P175963

Summaries for NFASC Gene

Entrez Gene Summary for NFASC Gene

  • 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]

GeneCards Summary for NFASC Gene

NFASC (Neurofascin) is a Protein Coding gene. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is PRTG.

UniProtKB/Swiss-Prot for NFASC Gene

  • Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.

Gene Wiki entry for NFASC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFASC Gene

Genomics for NFASC Gene

Regulatory Elements for NFASC Gene

Genomic Location for NFASC Gene

Start:
204,828,651 bp from pter
End:
205,022,822 bp from pter
Size:
194,172 bases
Orientation:
Plus strand

Genomic View for NFASC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NFASC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFASC Gene

Proteins for NFASC Gene

  • Protein details for NFASC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94856-NFASC_HUMAN
    Recommended name:
    Neurofascin
    Protein Accession:
    O94856
    Secondary Accessions:
    • B2RNN8
    • B3KQZ1
    • B5MDP6
    • B5MDR6
    • B7ZMD8
    • Q149P5
    • Q5T2F0
    • Q5T2F1
    • Q5T2F2
    • Q5T2F3
    • Q5T2F4
    • Q5T2F5
    • Q5T2F6
    • Q5T2F7
    • Q5T2F9
    • Q5T2G0
    • Q5W9F8
    • Q68DH3
    • Q6ZQV6
    • Q7Z3K1
    • Q96HT1
    • Q96K50

    Protein attributes for NFASC Gene

    Size:
    1347 amino acids
    Molecular mass:
    150027 Da
    Quaternary structure:
    • Horseshoe-shaped homodimer. Probable constituent of a neurofascin/NRCAM/ankyrin-G complex. Associates with the sodium channel beta-1 (SCN1B) and beta-3 (SCN3B) subunits. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC.
    SequenceCaution:
    • Sequence=BAA34476.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55195.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC87577.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NFASC Gene

    Alternative splice isoforms for NFASC Gene

neXtProt entry for NFASC Gene

Proteomics data for NFASC Gene at MOPED

Post-translational modifications for NFASC Gene

  • Glycosylation at Asn305, Asn409, Asn446, Asn483, Asn752, Asn778, Asn973, and Asn988
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NFASC (neurofascin)

Protein Products

No data available for DME Specific Peptides for NFASC Gene

Domains for NFASC Gene

Gene Families for NFASC Gene

HGNC:
  • FN3 :Fibronectin type III domain containing
  • ISET :Immunoglobulin superfamily / I-set domain containing

Protein Domains for NFASC Gene

Suggested Antigen Peptide Sequences for NFASC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94856

UniProtKB/Swiss-Prot:

NFASC_HUMAN :
  • O94856
Domain:
  • Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains
  • Contains 5 fibronectin type-III domains.
  • Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
genes like me logo Genes that share domains with NFASC: view

Function for NFASC Gene

Molecular function for NFASC Gene

UniProtKB/Swiss-Prot Function: Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.

Gene Ontology (GO) - Molecular Function for NFASC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23897819
GO:0086080 protein binding involved in heterotypic cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with NFASC: view
genes like me logo Genes that share phenotypes with NFASC: view

Animal Models for NFASC Gene

MGI Knock Outs for NFASC:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NFASC

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for NFASC Gene

Localization for NFASC Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFASC Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NFASC Gene COMPARTMENTS Subcellular localization image for NFASC gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 2
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NFASC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular ISS --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IDA 21423176
GO:0016021 integral component of membrane IEA --
GO:0030424 axon --
genes like me logo Genes that share ontologies with NFASC: view

Pathways for NFASC Gene

genes like me logo Genes that share pathways with NFASC: view

Pathways by source for NFASC Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NFASC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002175 protein localization to paranode region of axon IEA --
GO:0007411 axon guidance TAS --
GO:0007422 peripheral nervous system development ISS --
GO:0019226 transmission of nerve impulse IEA --
GO:0030913 paranodal junction assembly IEA --
genes like me logo Genes that share ontologies with NFASC: view

Compounds for NFASC Gene

(1) HMDB Compounds for NFASC Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5

(2) Novoseek inferred chemical compound relationships for NFASC Gene

Compound -log(P) Hits PubMed IDs
sodium 36.5 10
tyrosine 0 2
genes like me logo Genes that share compounds with NFASC: view

Transcripts for NFASC Gene

Unigene Clusters for NFASC Gene

Neurofascin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NFASC

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NFASC
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFASC Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c · 19d ^ 20a ·
SP1: - -
SP2: - -
SP3: -
SP4:
SP5: -
SP6:
SP7: -
SP8: -
SP9:
SP10:
SP11:

ExUns: 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c · 29d
SP1: - - - - - -
SP2: -
SP3:
SP4: - - - -
SP5: - - - - - - -
SP6: - -
SP7: - - -
SP8:
SP9:
SP10:
SP11:

Relevant External Links for NFASC Gene

GeneLoc Exon Structure for
NFASC
ECgene alternative splicing isoforms for
NFASC

Expression for NFASC Gene

mRNA expression in normal human tissues for NFASC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NFASC Gene

SOURCE GeneReport for Unigene cluster for NFASC Gene Hs.13349

genes like me logo Genes that share expressions with NFASC: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NFASC Gene

Orthologs for NFASC Gene

This gene was present in the common ancestor of animals.

Orthologs for NFASC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFASC 35
  • 99.25 (n)
  • 99.19 (a)
NFASC 36
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NFASC 35
  • 83.43 (n)
  • 86.64 (a)
NFASC 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFASC 35
  • 84.41 (n)
  • 86.73 (a)
NFASC 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfasc 35
  • 89.19 (n)
  • 95.89 (a)
Nfasc 16
Nfasc 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NFASC 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFASC 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfasc 35
  • 89.49 (n)
  • 96.05 (a)
chicken
(Gallus gallus)
Aves NFASC 35
  • 74.5 (n)
  • 76.58 (a)
NFASC 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFASC 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfasc 35
  • 68.39 (n)
  • 71.91 (a)
zebrafish
(Danio rerio)
Actinopterygii NFASC (1 of 2) 36
  • 46 (a)
OneToMany
nfasca 35
  • 65.48 (n)
  • 66.73 (a)
nfasca 36
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nrg 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea lad-1 37
  • 26 (a)
Species with no ortholog for NFASC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NFASC Gene

ENSEMBL:
Gene Tree for NFASC (if available)
TreeFam:
Gene Tree for NFASC (if available)

Paralogs for NFASC Gene

genes like me logo Genes that share paralogs with NFASC: view

Variants for NFASC Gene

Sequence variations from dbSNP and Humsavar for NFASC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9194 -- 205,022,642(+) ACACA(C/T)GACCT utr-variant-3-prime
rs10510 -- 205,022,468(+) CCTTC(C/G)TACAT utr-variant-3-prime
rs737017 -- 204,893,993(-) CCAAA(C/T)CTGAA intron-variant
rs750087 -- 204,841,033(+) GCAGG(A/G)CTAAG intron-variant
rs750088 -- 204,841,067(+) ACGTC(C/G)TAACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NFASC Gene

Variant ID Type Subtype PubMed ID
nsv873112 CNV Gain 21882294
esv270254 CNV Insertion 20981092
esv1007437 CNV Deletion 20482838
nsv521899 CNV Loss 19592680
nsv4165 CNV Insertion 18451855

Relevant External Links for NFASC Gene

HapMap Linkage Disequilibrium report
NFASC
Human Gene Mutation Database (HGMD)
NFASC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFASC Gene

Disorders for NFASC Gene

(2) University of Copenhagen DISEASES for NFASC Gene

Relevant External Links for NFASC

Genetic Association Database (GAD)
NFASC
Human Genome Epidemiology (HuGE) Navigator
NFASC
genes like me logo Genes that share disorders with NFASC: view

No data available for UniProtKB/Swiss-Prot for NFASC Gene

Publications for NFASC Gene

  1. The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation. (PMID: 9371782) Tuvia S. … Bennett V. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 23
  2. Palmitoylation of neurofascin at a site in the membrane-spanning domain highly conserved among the L1 family of cell adhesion molecules. (PMID: 9572267) Ren Q. … Bennett V. (J. Neurochem. 1998) 3 23
  3. Dissection of complex molecular interactions of neurofascin with axonin-1, F11, and tenascin-R, which promote attachment and neurite formation of tectal cells. (PMID: 9722619) Volkmer H. … Rathjen F.G. (J. Cell Biol. 1998) 3 23
  4. Structural requirements for association of neurofascin with ankyrin. (PMID: 9804856) Zhang X. … Bennett V. (J. Biol. Chem. 1998) 3 23
  5. The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self- associating activity. (PMID: 11152476) Koroll M. … Volkmer H. (J. Biol. Chem. 2001) 3 23

Products for NFASC Gene

Sources for NFASC Gene

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