Protein detail
NFASC
Neurofascin
Protein symbol NFASC | UniProt ID | EVMP score 0.25 |
Frequency 1 | Transmembrane count 1 | Protein classification Disease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted membrane proteins |
Basic Information
Protein Names
Neurofascin
Protein Class
Disease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteinsPredicted membrane proteins
Protein Function
- Disease related genes
- Human disease related genes:Congenital malformations:Congenital malformations of the nervous system
- Predicted intracellular proteins
Transmembrane
1218..1238; Helical
Transmembrane Count
1
Ensembl
Entrez Gene Symbol
Gene Synonym
FLJ46866KIAA0756NFNRCAML
Gene Description
Neurofascin
Chromosome
1
Position
204828651-205022822
Frequency
1
EVMP Score
0.25
Fluorescence & Localization
Tissue SpecificbrainCell SpecificAstrocytesSingle-Nuclei Brain Specificastrocyte
Function & Pathway
Protein Function
- Disease related genes
- Human disease related genes:Congenital malformations:Congenital malformations of the nervous system
- Predicted intracellular proteins
Cellular Component
Biological Process
Reactome
Canonical Pathways
- M270 Pid mapk trk pathway
- M187 Pid trkr pathway
Mediation Categories
Adhesion and uptake mediationFusion and delivery mediationImmune mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
35 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| cell_adhesion | cell_adhesion | Zhong2015 | Yes | Yes | No | Yes | No |
| icam | cell_adhesion | Zhong2015 | Yes | Yes | No | Yes | No |
| cell_adhesion | cell_adhesion | HGNC | Yes | Yes | No | Yes | No |
| adhesion | adhesion | OmniPath | Yes | Yes | No | Yes | No |
| cell_adhesion | cell_adhesion | OmniPath | Yes | Yes | No | Yes | No |
| transmembrane | transmembrane | UniProt_location | No | No | No | Yes | No |
| transmembrane | transmembrane | UniProt_topology | No | No | No | Yes | No |
| transmembrane | transmembrane | UniProt_keyword | No | No | No | Yes | No |
| transmembrane_predicted | transmembrane | OmniPath | No | No | No | Yes | No |
| transmembrane | transmembrane | TopDB | No | No | No | Yes | No |
Regulatory Interaction Network
3 records.
| Source Protein Symbol | Source UniProt ID | Target Protein Symbol | Target UniProt ID | Is Directed | Is Stimulation | Is Inhibition | Database | References |
|---|---|---|---|---|---|---|---|---|
| NFASC | O94856 | ANK1 | P16157 | Yes | Yes | No | SIGNORHPRDCui2007CA1Wang | SIGNOR:7961622CA1:7961622HPRD:9804856 |
| NFASC | O94856 | ANK2 | Q01484 | Yes | Yes | No | SIGNOR | SIGNOR:7961622 |
| NFASC | O94856 | ANK3 | Q12955 | Yes | Yes | No | SIGNOR | SIGNOR:7961622 |
Protein Complex Composition
0 records.
Isolation & Detection Technology
1 record.
| EV Isolation Method | Detection Method | Number of References | References |
|---|---|---|---|
| Size Exclusion Chromatography | Mass spectrometry | 1 | 28211531 |
Sequence, Structure & Domains
Sequences
Length
1,347
Mass
150,027
Sequence
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA
Alternative Products
Event=Alternative splicing; Named isoforms=13; Name=1; IsoId=O94856-1; Sequence=Displayed; Name=2; IsoId=O94856-2; Sequence=VSP_016426, VSP_008938; Name=3; IsoId=O94856-3; Sequence=VSP_016424, VSP_016425, VSP_008937, VSP_008940; Name=4; IsoId=O94856-4; Sequence=VSP_016427, VSP_016428, VSP_008940; Name=5; IsoId=O94856-5; Sequence=VSP_008937, VSP_016429; Name=6; IsoId=O94856-6; Sequence=VSP_016430, VSP_016434; Name=7; IsoId=O94856-7; Sequence=VSP_016433; Name=8; Synonyms=Nfasc155; IsoId=O94856-8; Sequence=VSP_016424, VSP_016425, VSP_008937, VSP_016432; Name=9; IsoId=O94856-9; Sequence=VSP_016427, VSP_016428; Name=10; IsoId=O94856-10; Sequence=VSP_016424, VSP_008937, VSP_016432; Name=11; IsoId=O94856-11; Sequence=VSP_016424, VSP_016425, VSP_016432; Name=12; IsoId=O94856-12; Sequence=VSP_016427, VSP_016428, VSP_016432; Name=13; IsoId=O94856-13; Sequence=VSP_016431
Alternative Sequence
31..36; Missing (in isoform 3, isoform 8, isoform 10 and isoform 11); 236; T -> NHPYNDSSLRNHPDMYSA (in isoform 3, isoform 8 and isoform 11); 611..625; Missing (in isoform 3, isoform 5, isoform 8 and isoform 10); 611..619; ADQATPTNR -> GNCPCSPWH (in isoform 2); 620..1347; Missing (in isoform 2); 824..930; Missing (in isoform 4, isoform 9 and isoform 12); 931; V -> L (in isoform 4, isoform 9 and isoform 12); 1030..1203; Missing (in isoform 3 and isoform 4); 1030..1152; Missing (in isoform 6); 1030..1043; ATPTAAPPTLPPTT -> GRCMAAAPGVKGPS (in isoform 5); 1035..1203; Missing (in isoform 8, isoform 10, isoform 11 and isoform 12); 1035..1113; Missing (in isoform 13); 1114..1203; Missing (in isoform 7); 1153; S -> G (in isoform 6)
3D Structural Models
Turn
104..106; 218..220; 289..291
Helix
84..86; 109..112; 205..207; 296..298; 308..310; 377..379
Beta Strand
43..46; 49..53; 55..57; 63..65; 72..77; 94..96; 114..121; 126..136; 150..153; 158..160; 172..176; 187..191; 197..201; 211..216; 223..225; 231..234; 236..238; 246..249; 251..259; 264..267; 277..282; 292..295; 300..305; 312..319; 324..341; 346..348; 354..357; 359..364; 367..372; 386..389; 392..397; 405..412; 415..425
3D Structure
X-ray crystallography (2)
Domain & Motif Annotations
Compositional Bias
916..926; Basic and acidic residues; 1024..1040; Pro residues; 1090..1105; Low complexity; 1261..1272; Acidic residues; 1278..1291; Polar residues
Domain (CC)
Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.
Domain (FT)
41..137; Ig-like C2-type 1; 143..230; Ig-like C2-type 2; 244..332; Ig-like C2-type 3; 337..424; Ig-like C2-type 4; 429..517; Ig-like C2-type 5; 521..603; Ig-like C2-type 6; 630..725; Fibronectin type-III 1; 730..823; Fibronectin type-III 2; 828..930; Fibronectin type-III 3; 934..1030; Fibronectin type-III 4; 1114..1206; Fibronectin type-III 5
Region
713..740; Disordered; 915..934; Disordered; 1011..1040; Disordered; 1090..1111; Disordered; 1248..1347; Disordered
Protein Families
- Immunoglobulin superfamily
- L1/neurofascin/NgCAM family
Sequence Similarities
Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Clinical Relevance
Disease Involvement
Disease variant
Antibody