NFASC
entrez
23114
canonical
uniprot
O94856
canonical
ensembl
ENSG00000163531
resolver
ensp
ENSP00000344786
resolver
ensp
ENSP00000384875
resolver
ensp
ENSP00000385676
resolver
ensp
ENSP00000415031
resolver
ensp
ENSP00000425908
resolver
ensp
ENSP00000438614
resolver
ensp
ENSP00000506661
resolver
ensp
ENSP00000573242
resolver
ensp
ENSP00000573243
resolver
ensp
ENSP00000573244
resolver
ensp
ENSP00000597262
resolver
ensp
ENSP00000657060
resolver
enst
ENST00000680427
resolver
genesymbol
NFASC
resolver
genesymbol
Nfasc
resolver
genesymbol_syn
KIAA0756
resolver
hgnc
HGNC:29866
resolver
uniprot
A0A386QWI1
resolver
uniprot
A0A7P0Z4R6
resolver
uniprot
B2RNN8
resolver
uniprot
B3KQZ1
resolver
uniprot
B4DRH7
resolver
uniprot
B5MDP6
resolver
uniprot
B5MDR6
resolver
uniprot
B7ZMD8
resolver
uniprot
Q149P5
resolver
uniprot
Q5T2F0
resolver
uniprot
Q5T2F1
resolver
uniprot
Q5T2F2
resolver
uniprot
Q5T2F3
resolver
uniprot
Q5T2F4
resolver
uniprot
Q5T2F5
resolver
uniprot
Q5T2F6
resolver
uniprot
Q5T2F7
resolver
uniprot
Q5T2F9
resolver
uniprot
Q5T2G0
resolver
uniprot
Q5W9F8
resolver
uniprot
Q68DH3
resolver
uniprot
Q6ZQV6
resolver
uniprot
Q7Z3K1
resolver
uniprot
Q96HT1
resolver
uniprot
Q96K50
resolver
uniprot_entry
A0A386QWI1_HUMAN
resolver
uniprot_entry
A0A7P0Z4R6_HUMAN
resolver
uniprot_entry
B4DRH7_HUMAN
resolver
uniprot_entry
NFASC_HUMAN
resolver
uniprot_sec
B2RNN8
resolver
uniprot_sec
B3KQZ1
resolver
uniprot_sec
B5MDP6
resolver
uniprot_sec
B5MDR6
resolver
uniprot_sec
B7ZMD8
resolver
uniprot_sec
Q149P5
resolver
uniprot_sec
Q5T2F0
resolver
uniprot_sec
Q5T2F1
resolver
uniprot_sec
Q5T2F2
resolver
uniprot_sec
Q5T2F3
resolver
uniprot_sec
Q5T2F4
resolver
uniprot_sec
Q5T2F5
resolver
uniprot_sec
Q5T2F6
resolver
uniprot_sec
Q5T2F7
resolver
uniprot_sec
Q5T2F9
resolver
uniprot_sec
Q5T2G0
resolver
uniprot_sec
Q5W9F8
resolver
uniprot_sec
Q68DH3
resolver
uniprot_sec
Q6ZQV6
resolver
uniprot_sec
Q7Z3K1
resolver
uniprot_sec
Q96HT1
resolver
uniprot_sec
Q96K50
resolver
amino_acid_sequence
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITDYVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERYRTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVTVWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNSTAISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFPYSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVTEESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) [MIM:618356]: 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. {ECO:0000269|PubMed:28940097, ECO:0000269|PubMed:30124836, ECO:0000269|PubMed:30850329}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions. {ECO:0000250}.
uniprot
proteins
mass_dalton
150027
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
protein_family
L1/neurofascin/NgCAM family
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15491607
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21047790
uniprot
proteins
pubmed
23897819
uniprot
proteins
pubmed
28940097
uniprot
proteins
pubmed
29288388
uniprot
proteins
pubmed
30124836
uniprot
proteins
pubmed
30850329
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
1347
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:30850329}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform 8]: Cell junction, paranodal septate junction {ECO:0000269|PubMed:30124836}.
uniprot
proteins
transmembrane_region
TRANSMEM 1218..1238; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins