KEGG   Homo sapiens (human): 23114
Entry
23114             CDS       T01001                                 
Symbol
NFASC, NEDCPMD, NF, NRCAML
Name
(RefSeq) neurofascin
  KO
K06757  neurofascin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
hsa04517  IgSF CAM signaling
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
  Element
N01848  Membrane-associated periodic skeleton (MPS)
N01933  NrCAM interactions
N01935  NFASC interactions
N01936  CNTN1 interactions
Disease
H02990  Neurodevelopmental disorder with central and peripheral motor dysfunction
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    23114 (NFASC)
   04517 IgSF CAM signaling
    23114 (NFASC)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    23114 (NFASC)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  L1 family
   23114 (NFASC)
SSDB
Motif
Pfam: Ig_3 I-set Ig_2 fn3 ig Bravo_FIGEY V-set Ig_DSCAM-DSCAML_C Ig_5 C2-set_2 V-set_CD47 Ig_VEGFR-1-like_5th BiPBP_C DUF4998
Other DBs
NCBI-GeneID: 23114
NCBI-ProteinID: NP_001365258
OMIM: 609145
HGNC: 29866
Ensembl: ENSG00000163531
UniProt: O94856
Structure
LinkDB
Position
1:204828652..205022822
AA seq 1347 aa
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNIL
IECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFA
RNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSM
EPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVA
ERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKA
LRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRA
NGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLAN
AFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHV
YENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQ
LECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQ
DLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITD
YVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERY
RTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVT
VWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNST
AISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFP
YSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNG
IMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVT
EESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIAT
TTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNF
GPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFM
TSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPED
PKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYT
VKKDKEETEGNESSEATSPVNAIYSLA
NT seq 4044 nt   +upstreamnt  +downstreamnt
atggccaggcagccaccgccgccctgggtccatgcagccttcctcctctgcctcctcagt
cttggcggagccatcgaaattcctatggatccaagcattcagaatgagctgacgcagccg
ccaaccatcaccaagcagtcagcgaaggatcacatcgtggacccccgtgataacatcctg
attgagtgtgaagcaaaagggaaccctgcccccagcttccactggacacgaaacagcaga
ttcttcaacatcgccaaggacccccgggtgtccatgaggaggaggtctgggaccctggtg
attgacttccgcagtggcgggcggccggaggaatatgagggggaatatcagtgcttcgcc
cgcaacaaatttggcacggccctgtccaataggatccgcctgcaggtgtctaaatctcct
ctgtggcccaaggaaaacctagaccctgtcgtggtccaagagggcgctcctttgacgctc
cagtgcaaccccccgcctggacttccatccccggtcatcttctggatgagcagctccatg
gagcccatcacccaagacaaacgtgtctctcagggccataacggagacctatacttctcc
aacgtgatgctgcaggacatgcagaccgactacagttgtaacgcccgcttccacttcacc
cacaccatccagcagaagaaccctttcaccctcaaggtcctcaccacccgaggagttgca
gaaagaacaccaagcttcatgtatccccagggcaccgcgagcagccagatggtgcttcgt
ggcatggacctcctgctggaatgcatcgcctccggggtcccaacaccagacatcgcatgg
tacaagaaaggtggggacctcccatctgataaggccaagtttgagaactttaataaggcc
ctgcgtatcacaaatgtctctgaggaagactccggggagtatttctgcctggcctccaac
aagatgggcagcatccggcacacgatctcggtgagagtaaaggctgctccctactggctg
gacgaacccaagaaccttattctggctcctggcgaggatgggagactggtgtgtcgagcc
aatggaaaccccaaacccactgtccagtggatggtgaatggggaacctttgcaatcggca
ccacctaacccaaaccgtgaggtggccggagacaccatcatcttccgggacacccagatc
agcagcagggctgtgtaccagtgcaacacctccaacgagcatggctacctgctggccaac
gcctttgtcagtgtgctggatgtgccgcctcggatgctgtcgccccggaaccagctcatt
cgagtgattctttacaaccggacgcggctggactgccctttctttgggtctcccatcccc
acactgcgatggtttaagaatgggcaaggaagcaacctggatggtggcaactaccatgtt
tatgagaacggcagtctggaaattaagatgatccgcaaagaggaccagggcatctacacc
tgtgtcgccaccaacatcctgggcaaagctgaaaaccaagtccgcctggaggtcaaagac
cccaccaggatctaccggatgcccgaggaccaggtggccagaaggggcaccacggtgcag
ctggagtgtcgggtgaagcacgacccctccctgaaactcaccgtctcctggctgaaggat
gacgagccgctctatattggaaacaggatgaagaaggaagacgactccctgaccatcttt
ggggtggcagagcgggaccagggcagttacacgtgtgtcgccagcaccgagctagaccaa
gacctggccaaggcctacctcaccgtgctagctgatcaggccactccaactaaccgtttg
gctgccctgcccaaaggacggccagaccggccccgggacctggagctgaccgacctggcc
gagaggagcgtgcggctgacctggatccccggggatgctaacaacagccccatcacagac
tacgtcgtccagtttgaagaagaccagttccaacctggggtctggcatgaccattccaag
taccccggcagcgttaactcagccgtcctccggctgtccccgtatgtcaactaccagttc
cgtgtcattgccatcaacgaggttgggagcagccaccccagcctcccatccgagcgctac
cgaaccagtggagcaccccccgagtccaatcctggtgacgtgaagggagaggggaccaga
aagaacaacatggagatcacgtggacgcccatgaatgccacctcggcctttggccccaac
ctgcgctacattgtcaagtggaggcggagagagactcgagaggcctggaacaacgtcaca
gtgtggggctctcgctacgtggtggggcagaccccagtctacgtgccctatgagatccga
gtccaggctgaaaatgacttcgggaagggccctgagccagagtccgtcatcggttactcc
ggagaagattatcccagggctgcgcccactgaagttaaagtccgagtcatgaacagcaca
gccatcagccttcagtggaaccgcgtctactccgacacggtccagggccagctcagagag
taccgagcctactactggagggagagcagcttgctgaagaacctgtgggtgtctcagaag
agacagcaagccagcttccctggtgaccgcctccgtggcgtggtgtcccgcctcttcccc
tacagtaactacaagctggagatggttgtggtcaatgggagaggtgatgggcctcgcagt
gagaccaaggagttcaccaccccggaaggagtacccagtgcccctaggcgtttccgagtc
cggcagcccaacctggagacaatcaacctggaatgggatcatcctgagcatccaaatggg
atcatgattggatacactctcaaatatgtggcctttaacgggaccaaagtaggaaagcag
atagtggaaaacttctctcccaatcagaccaagttcacggtgcaaagaacggaccccgtg
tcacgctaccgctttaccctcagcgccaggacgcaggtgggctctggggaagccgtcaca
gaggagtcaccagcacccccgaatgaagctactccaaccgcagctcctcccacattgccc
ccgactaccgtgggtgcgacgggcgctgtgagcagtaccgatgctactgccattgctgcc
accaccgaagccacaacagtccccatcatcccaactgtcgcacctaccaccatcgccacc
accaccaccgtcgccacaactactacaaccactgctgccgccaccaccaccacggagagt
cctcccaccaccacctccgggactaagatacacgaatccgcccctgatgagcagtccata
tggaacgtcacggtgctccccaacagtaaatgggccaacatcacctggaagcacaatttc
gggcccggaactgactttgtggttgagtacatcgacagcaaccatacgaaaaaaactgtc
ccagttaaggcccaggctcagcctatacagctgacagacctctatcccgggatgacatac
acgttgcgggtttattcccgggacaacgagggcatcagcagtaccgtcatcacctttatg
accagtacagcttacaccaacaaccaagcggacatcgccacccagggctggttcattggg
cttatgtgcgccatcgccctcctggtgctgatcctgctcatcgtctgtttcatcaagagg
agtcgcggcggcaagtacccagtacgagaaaagaaggatgttccccttggccctgaagac
cccaaggaagaggatggctcatttgactatagtgatgaggacaacaagcccctgcagggc
agtcagacatctctggacggcaccatcaagcagcaggagagtgacgacagcctggtggac
tatggcgagggtggcgagggtcagttcaatgaagacggctccttcatcggccagtacacg
gtcaaaaaggacaaggaggaaacagagggcaacgaaagctcagaggccacgtcacctgtc
aatgctatctactctctggcctaa

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