• Gene id: 23114

Gene Summary

• Gene Symbol: NFASC   Gene   UCSC   Ensembl
• Aliases: NEDCPMD, NF, NRCAML
• Gene name: neurofascin
• Alternate names: neurofascin, neurofascin homolog, neurofascin isoform 140,
• Gene location: 1q32.1 (204828651: 205022821)     Exons: 36     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 609145

Protein Summary

• Protein general information: O94856  
  • Name: Neurofascin
  • Length: 1347  
  • Mass: 150027
• Sequence:

  MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHW
  TRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPV
  VVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQ
  KNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKA
  LRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGE
  PLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRL
  DCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIY
  RMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQ
  DLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVW
  HDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTP
  MNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYP
  RAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFP
  YSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGT
  KVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPPTLPPTTVGATGAV
  SSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTV
  LPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFM
  TSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDN
  KPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA

• Structural information:
  • Protein Domains: (41..13-)
    1 (/note="Ig-like-C2-type)
    (143..23-)
    2 (/note="Ig-like-C2-type)
    (244..33-)
    3 (/note="Ig-like-C2-type)
    (337..42-)
    4 (/note="Ig-like-C2-type)
    (429..51-)
    5 (/note="Ig-like-C2-type)
    (521..60-)
    (/note="Ig-lik-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR013151  IPR026966  IPR026965  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 3P3Y 3P40
  • PDBsum: 3P3Y 3P40
  • STRING: ENSP00000344786
• Other Databases: GeneCards:  NFASC  Malacards:  NFASC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043194	axon initial segment	ISS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0019226	transmission of nerve impulse	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007422	peripheral nervous system development	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0033268	node of Ranvier	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0071205	protein localization to juxtaparanode region of axon	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0019226	transmission of nerve impulse	IEA	biological process
GO:0002175	protein localization to paranode region of axon	IEA	biological process
GO:0097454	Schwann cell microvillus	IEA	cellular component
GO:0043194	axon initial segment	IEA	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0007422	peripheral nervous system development	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0086080	protein binding involved in heterotypic cell-cell adhesion	IEA	molecular function
GO:0045162	clustering of voltage-gated sodium channels	IEA	biological process
GO:0043194	axon initial segment	IEA	cellular component
GO:0033270	paranode region of axon	IEA	cellular component
GO:0033010	paranodal junction	IEA	cellular component
GO:0030913	paranodal junction assembly	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0033268	node of Ranvier	ISS	cellular component
GO:0033268	node of Ranvier	TAS	cellular component
GO:0042552	myelination	ISS	biological process
GO:0007422	peripheral nervous system development	ISS	biological process
GO:0043194	axon initial segment	ISS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0033010	paranodal junction	IEA	cellular component
GO:0034113	heterotypic cell-cell adhesion	IEA	biological process
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq