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
Disease
H02459  Syndromic neurodevelopmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    23114 (NFASC)
SSDB
Motif
Pfam: Ig_3 I-set Ig_2 ig fn3 Bravo_FIGEY V-set Ig_5 C2-set_2 V-set_CD47 BiPBP_C DUF4998
Other DBs
NCBI-GeneID: 23114
NCBI-ProteinID: NP_001005388
OMIM: 609145
HGNC: 29866
Ensembl: ENSG00000163531
UniProt: O94856
Structure
Position
1:204828652..205022822
AA seq 1240 aa
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNIL
IECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFA
RNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSM
EPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVA
ERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKA
LRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRA
NGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLAN
AFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHV
YENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQ
LECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQ
DLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITD
YVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERY
RTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVT
VWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDLPSAPRRFRVRQPNLET
INLEWDHPEHPNGIMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTL
SARTQVGSGEAVTEESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTV
PIIPTVAPTTIATTTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLP
NSKWANITWKHNFGPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSR
DNEGISSTVITFMTSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYP
VREKKDVPLGPEDPKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEG
QFNEDGSFIGQYTVKKDKEETEGNESSEATSPVNAIYSLA
NT seq 3723 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
ggagaagatttacccagtgcccctaggcgtttccgagtccggcagcccaacctggagaca
atcaacctggaatgggatcatcctgagcatccaaatgggatcatgattggatacactctc
aaatatgtggcctttaacgggaccaaagtaggaaagcagatagtggaaaacttctctccc
aatcagaccaagttcacggtgcaaagaacggaccccgtgtcacgctaccgctttaccctc
agcgccaggacgcaggtgggctctggggaagccgtcacagaggagtcaccagcacccccg
aatgaagctactccaaccgcagctcctcccacattgcccccgactaccgtgggtgcgacg
ggcgctgtgagcagtaccgatgctactgccattgctgccaccaccgaagccacaacagtc
cccatcatcccaactgtcgcacctaccaccatcgccaccaccaccaccgtcgccacaact
actacaaccactgctgccgccaccaccaccacggagagtcctcccaccaccacctccggg
actaagatacacgaatccgcccctgatgagcagtccatatggaacgtcacggtgctcccc
aacagtaaatgggccaacatcacctggaagcacaatttcgggcccggaactgactttgtg
gttgagtacatcgacagcaaccatacgaaaaaaactgtcccagttaaggcccaggctcag
cctatacagctgacagacctctatcccgggatgacatacacgttgcgggtttattcccgg
gacaacgagggcatcagcagtaccgtcatcacctttatgaccagtacagcttacaccaac
aaccaagcggacatcgccacccagggctggttcattgggcttatgtgcgccatcgccctc
ctggtgctgatcctgctcatcgtctgtttcatcaagaggagtcgcggcggcaagtaccca
gtacgagaaaagaaggatgttccccttggccctgaagaccccaaggaagaggatggctca
tttgactatagtgatgaggacaacaagcccctgcagggcagtcagacatctctggacggc
accatcaagcagcaggagagtgacgacagcctggtggactatggcgagggtggcgagggt
cagttcaatgaagacggctccttcatcggccagtacacggtcaaaaaggacaaggaggaa
acagagggcaacgaaagctcagaggccacgtcacctgtcaatgctatctactctctggcc
taa

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (102)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (100)   
DNA sequence (156)   
   RefSeq(nuc) (102)   
   GenBank (27)   
   EMBL (27)   
3D Structure (2)   
   PDB (2)   
Protein domain (12)   
   Pfam (12)   
All databases (300)   

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