O94856 · NFASC_HUMAN

  • Protein
    Neurofascin
  • Gene
    NFASC
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

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

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentaxon
Cellular Componentaxon initial segment
Cellular Componentficolin-1-rich granule membrane
Cellular Componentfocal adhesion
Cellular Componentnode of Ranvier
Cellular Componentparanodal junction
Cellular Componentplasma membrane
Molecular Functioncell-cell adhesion mediator activity
Biological Processaxon guidance
Biological Processbrain development
Biological Processcell-cell adhesion
Biological Processmyelination
Biological Processperipheral nervous system development

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Neurofascin

Gene names

    • Name
      NFASC
    • Synonyms
      KIAA0756

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    O94856
  • Secondary accessions
    • B2RNN8
    • B3KQZ1
    • B5MDP6
    • B5MDR6
    • B7ZMD8

Proteomes

Organism-specific databases

Subcellular Location

Features

Showing features for topological domain, transmembrane.

TypeIDPosition(s)Description
Topological domain25-1217Extracellular
Transmembrane1218-1238Helical
Topological domain1239-1347Cytoplasmic

Keywords

Disease & Variants

Involvement in disease

Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy.
  • See also
    MIM:618356
Natural variants in NEDCPMD
Variant IDPosition(s)ChangeDescription
VAR_083116359R>Pin NEDCPMD; uncertain significance
VAR_083117835-1347missingin NEDCPMD; uncertain significance; no protein expression
VAR_0831181229V>Ein NEDCPMD; uncertain significance; decreased protein abundance in patient-derived cells; decreased cell surface localization

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_017251159in dbSNP:rs3795564
Natural variantVAR_083116359in NEDCPMD; uncertain significance
Natural variantVAR_083117835-1347in NEDCPMD; uncertain significance; no protein expression
Natural variantVAR_0831181229in NEDCPMD; uncertain significance; decreased protein abundance in patient-derived cells; decreased cell surface localization

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 4 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for signal, chain, disulfide bond, glycosylation, modified residue, modified residue (large scale data).

TypeIDPosition(s)SourceDescription
Signal1-24UniProt
ChainPRO_000001504925-1347UniProtNeurofascin
Disulfide bond63↔118UniProt
Disulfide bond162↔213UniProt
Disulfide bond268↔316UniProt
Glycosylation305UniProtN-linked (GlcNAc...) asparagine
Disulfide bond358↔408UniProt
Glycosylation409UniProtN-linked (GlcNAc...) asparagine
Glycosylation446UniProtN-linked (GlcNAc...) asparagine
Disulfide bond452↔501UniProt
Modified residue481UniProtPhosphotyrosine
Glycosylation483UniProtN-linked (GlcNAc...) asparagine
Modified residue485UniProtPhosphoserine
Disulfide bond543↔592UniProt
Glycosylation752UniProtN-linked (GlcNAc...) asparagine
Glycosylation778UniProtN-linked (GlcNAc...) asparagine
Glycosylation973UniProtN-linked (GlcNAc...) asparagine
Glycosylation988UniProtN-linked (GlcNAc...) asparagine
Modified residue1267UniProtPhosphoserine
Modified residue1281UniProtPhosphoserine
Modified residue (large scale data)1284PRIDEPhosphoserine
Modified residue1294UniProtPhosphoserine
Modified residue1297UniProtPhosphoserine
Modified residue1333UniProtPhosphoserine
Modified residue1334UniProtPhosphoserine
Modified residue1338UniProtPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

Interaction

Subunit

Horseshoe-shaped homodimer. Probable constituent of a NFASC/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

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY O94856-3ABI1 Q8IZP0-53EBI-12035911, EBI-11743294
BINARY O94856-3ABI2 Q9NYB9-23EBI-12035911, EBI-11096309

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for domain, region, compositional bias.

TypeIDPosition(s)Description
Domain41-137Ig-like C2-type 1
Domain143-230Ig-like C2-type 2
Domain244-332Ig-like C2-type 3
Domain337-424Ig-like C2-type 4
Domain429-517Ig-like C2-type 5
Domain521-603Ig-like C2-type 6
Domain630-725Fibronectin type-III 1
Region713-740Disordered
Domain730-823Fibronectin type-III 2
Domain828-930Fibronectin type-III 3
Region915-934Disordered
Domain934-1030Fibronectin type-III 4
Region1011-1040Disordered
Region1090-1111Disordered
Domain1114-1206Fibronectin type-III 5
Compositional bias1248-1272Basic and acidic residues
Region1248-1347Disordered
Compositional bias1274-1295Polar residues
Compositional bias1318-1332Basic and acidic residues
Compositional bias1333-1347Polar residues

Domain

Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.

Sequence similarities

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoforms

  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.

This entry describes 13 isoforms produced by Alternative splicing.

O94856-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    1,347
  • Mass (Da)
    150,027
  • Last updated
    2005-12-06 v4
  • Checksum
    4DC555E5AA06C223
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA

O94856-2

  • Name
    2
  • Note
    May be due to intron retention.
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

O94856-3

O94856-4

O94856-5

  • Name
    5
  • Note
    May be due to intron retention.
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

O94856-6

O94856-7

  • Name
    7
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

O94856-8

  • Name
    8
  • Synonyms
    Nfasc155
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

O94856-9

O94856-10

O94856-11

O94856-12

O94856-13

Computationally mapped potential isoform sequences

There are 8 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
D6RHX4D6RHX4_HUMANNFASC129
D6RBU5D6RBU5_HUMANNFASC486
H7BY57H7BY57_HUMANNFASC1041
X6RKN2X6RKN2_HUMANNFASC1165
H7C0L6H7C0L6_HUMANNFASC298
H7C073H7C073_HUMANNFASC237
A0A7P0Z4R6A0A7P0Z4R6_HUMANNFASC630
A0A0C4DG92A0A0C4DG92_HUMANNFASC218

Sequence caution

The sequence BAA34476.3 differs from that shown. Reason: Erroneous initiation
The sequence BAB55195.1 differs from that shown. Reason: Erroneous initiation
The sequence BAC87577.1 differs from that shown. Reason: Erroneous initiation

Features

Showing features for alternative sequence, sequence conflict, compositional bias.

TypeIDPosition(s)Description
Alternative sequenceVSP_01642431-36in isoform 3, isoform 8, isoform 10 and isoform 11
Alternative sequenceVSP_016425236in isoform 3, isoform 8 and isoform 11
Alternative sequenceVSP_016426611-619in isoform 2
Alternative sequenceVSP_008937611-625in isoform 3, isoform 5, isoform 8 and isoform 10
Alternative sequenceVSP_008938620-1347in isoform 2
Sequence conflict807in Ref. 3; BAB55195
Alternative sequenceVSP_016427824-930in isoform 4, isoform 9 and isoform 12
Alternative sequenceVSP_016428931in isoform 4, isoform 9 and isoform 12
Sequence conflict972in Ref. 3; AK127424
Alternative sequenceVSP_0164291030-1043in isoform 5
Alternative sequenceVSP_0164301030-1152in isoform 6
Alternative sequenceVSP_0089401030-1203in isoform 3 and isoform 4
Alternative sequenceVSP_0164311035-1113in isoform 13
Alternative sequenceVSP_0164321035-1203in isoform 8, isoform 10, isoform 11 and isoform 12
Alternative sequenceVSP_0164331114-1203in isoform 7
Alternative sequenceVSP_0164341153in isoform 6
Compositional bias1248-1272Basic and acidic residues
Compositional bias1274-1295Polar residues
Compositional bias1318-1332Basic and acidic residues
Compositional bias1333-1347Polar residues

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AB018299
EMBL· GenBank· DDBJ
BAA34476.3
EMBL· GenBank· DDBJ
mRNA Different initiation
AK027553
EMBL· GenBank· DDBJ
BAB55195.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AK090639
EMBL· GenBank· DDBJ
BAG52203.1
EMBL· GenBank· DDBJ
mRNA
AK127424
EMBL· GenBank· DDBJ
-mRNA No translation available.
AK128699
EMBL· GenBank· DDBJ
BAC87577.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AC096675
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL391822
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
BC008124
EMBL· GenBank· DDBJ
AAH08124.2
EMBL· GenBank· DDBJ
mRNA
BC117674
EMBL· GenBank· DDBJ
AAI17675.2
EMBL· GenBank· DDBJ
mRNA
BC137013
EMBL· GenBank· DDBJ
AAI37014.1
EMBL· GenBank· DDBJ
mRNA
BC144454
EMBL· GenBank· DDBJ
AAI44455.1
EMBL· GenBank· DDBJ
mRNA
AB177861
EMBL· GenBank· DDBJ
BAD66839.1
EMBL· GenBank· DDBJ
mRNA
BX537841
EMBL· GenBank· DDBJ
CAD97852.1
EMBL· GenBank· DDBJ
mRNA
CR749402
EMBL· GenBank· DDBJ
CAH18247.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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