ENSG00000163531


Homo sapiens

Features
Gene ID: ENSG00000163531
  
Biological name :NFASC
  
Synonyms : neurofascin / NFASC / O94856
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q32.1
Gene start: 204828651
Gene end: 205022822
  
Corresponding Affymetrix probe sets: 213438_at (Human Genome U133 Plus 2.0 Array)   214799_at (Human Genome U133 Plus 2.0 Array)   230242_at (Human Genome U133 Plus 2.0 Array)   243645_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422524
Ensembl peptide - ENSP00000416891
Ensembl peptide - ENSP00000425908
Ensembl peptide - ENSP00000438614
Ensembl peptide - ENSP00000427586
Ensembl peptide - ENSP00000344786
Ensembl peptide - ENSP00000353154
Ensembl peptide - ENSP00000356141
Ensembl peptide - ENSP00000384061
Ensembl peptide - ENSP00000384875
Ensembl peptide - ENSP00000385637
Ensembl peptide - ENSP00000385676
Ensembl peptide - ENSP00000393290
Ensembl peptide - ENSP00000395664
Ensembl peptide - ENSP00000415031
NCBI entrez gene - 23114     See in Manteia.
OMIM - 609145
RefSeq - XM_017000743
RefSeq - XM_011509325
RefSeq - XM_011509326
RefSeq - XM_011509327
RefSeq - XM_011509328
RefSeq - XM_017000733
RefSeq - XM_017000734
RefSeq - XM_017000735
RefSeq - XM_017000736
RefSeq - XM_017000737
RefSeq - XM_017000738
RefSeq - XM_017000739
RefSeq - XM_017000740
RefSeq - XM_017000741
RefSeq - XM_017000742
RefSeq - NM_001005388
RefSeq - NM_001005389
RefSeq - NM_001160331
RefSeq - NM_001160332
RefSeq - NM_001160333
RefSeq - NM_015090
RefSeq - XM_005244989
RefSeq - XM_005244991
RefSeq - XM_005244992
RefSeq - XM_005244993
RefSeq - XM_005244997
RefSeq - XM_011509311
RefSeq - XM_011509312
RefSeq - XM_011509313
RefSeq - XM_011509314
RefSeq - XM_011509315
RefSeq - XM_011509316
RefSeq - XM_011509317
RefSeq - XM_011509318
RefSeq - XM_011509319
RefSeq - XM_011509320
RefSeq - XM_011509321
RefSeq - XM_011509322
RefSeq - XM_011509323
RefSeq - XM_011509324
RefSeq Peptide - NP_001153803
RefSeq Peptide - NP_001153804
RefSeq Peptide - NP_001153805
RefSeq Peptide - NP_055905
RefSeq Peptide - NP_001005388
RefSeq Peptide - NP_001005389
swissprot - A0A0C4DG92
swissprot - D6RHX4
swissprot - O94856
swissprot - D6RBU5
swissprot - H7BY57
swissprot - H7C073
swissprot - H7C0L6
swissprot - X6RKN2
Ensembl - ENSG00000163531
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CU234171.1ENSDARG00000056910Danio rerio
 nfascaENSDARG00000061099Danio rerio
 NFASCENSGALG00000031776Gallus gallus
 NfascENSMUSG00000026442Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NRCAM / Q92823 / neuronal cell adhesion moleculeENSG0000009112948
L1CAM / P32004 / L1 cell adhesion moleculeENSG0000019891035
CHL1 / O00533 / cell adhesion molecule L1 likeENSG0000013412135
CNTN5 / O94779 / contactin 5ENSG0000014997222
CNTN1 / Q12860 / contactin 1ENSG0000001823621
CNTN4 / Q8IWV2 / contactin 4ENSG0000014461921
CNTN3 / Q9P232 / contactin 3ENSG0000011380521
CNTN6 / Q9UQ52 / contactin 6ENSG0000013411520
CNTN2 / Q02246 / contactin 2ENSG0000018414420


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013151  Immunoglobulin
 IPR013783  Immunoglobulin-like fold
 IPR026965  Neurofascin
 IPR026966  Neurofascin/L1/NrCAM, C-terminal domain
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002175 protein localization to paranode region of axon IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0007422 peripheral nervous system development ISS
 biological_processGO:0019226 transmission of nerve impulse IEA
 biological_processGO:0030913 paranodal junction assembly IEA
 biological_processGO:0034113 heterotypic cell-cell adhesion IEA
 biological_processGO:0042552 myelination ISS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045162 clustering of voltage-gated sodium channels IEA
 biological_processGO:0050808 synapse organization IEA
 biological_processGO:0071205 protein localization to juxtaparanode region of axon IEA
 biological_processGO:0072659 protein localization to plasma membrane IEA
 cellular_componentGO:0005622 intracellular ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0033010 paranodal junction IEA
 cellular_componentGO:0033268 node of Ranvier TAS
 cellular_componentGO:0033270 paranode region of axon IEA
 cellular_componentGO:0043194 axon initial segment ISS
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097454 Schwann cell microvillus IEA
 cellular_componentGO:0101003 ficolin-1-rich granule membrane TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0086080 protein binding involved in heterotypic cell-cell adhesion IEA


Pathways (from Reactome)
Pathway description
Interaction between L1 and Ankyrins
Neurofascin interactions
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000145362 ANK2 / Q01484 / ankyrin 2  / complex
 ENSG00000029534 ANK1 / P16157 / ankyrin 1  / complex / reaction
 ENSG00000163554 SPTA1 / P02549 / spectrin alpha, erythrocytic 1  / complex
 ENSG00000184156 KCNQ3 / O43525 / potassium voltage-gated channel subfamily Q member 3  / reaction / complex
 ENSG00000183873 SCN5A / Q14524 / sodium voltage-gated channel alpha subunit 5  / reaction / complex
 ENSG00000091129 NRCAM / Q92823 / neuronal cell adhesion molecule  / reaction / complex
 ENSG00000163531 NFASC / O94856 / neurofascin  / complex / reaction
 ENSG00000137575 SDCBP / O00560 / syndecan binding protein  / reaction / complex
 ENSG00000108797 P78357 / CNTNAP1 / contactin associated protein 1  / reaction / complex
 ENSG00000075624 ACTB / P60709 / actin beta  / complex
 ENSG00000184009 ACTG1 / P63261 / actin gamma 1  / complex
 ENSG00000018236 CNTN1 / Q12860 / contactin 1  / complex / reaction
 ENSG00000075043 KCNQ2 / O43526 / potassium voltage-gated channel subfamily Q member 2  / complex / reaction
 ENSG00000197694 Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1  / complex
 ENSG00000105711 SCN1B / Q07699 / sodium voltage-gated channel beta subunit 1  / reaction / complex
 ENSG00000077279 DCX / O43602 / doublecortin  / complex / reaction






 

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