2024-04-24 20:20:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001005389 2527 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens neurofascin (NFASC), transcript variant 5, mRNA. ACCESSION NM_001005389 XM_046808 VERSION NM_001005389.1 GI:53729315 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2527) AUTHORS Shaffer,J.R., Feingold,E., Wang,X., Lee,M., Tcuenco,K., Weeks,D.E., Weyant,R.J., Crout,R., McNeil,D.W. and Marazita,M.L. TITLE GWAS of dental caries patterns in the permanent dentition JOURNAL J. Dent. Res. 92 (1), 38-44 (2013) PUBMED 23064961 REFERENCE 2 (bases 1 to 2527) AUTHORS Sistani,L., Rodriguez,P.Q., Hultenby,K., Uhlen,M., Betsholtz,C., Jalanko,H., Tryggvason,K., Wernerson,A. and Patrakka,J. TITLE Neuronal proteins are novel components of podocyte major processes and their expression in glomerular crescents supports their role in crescent formation JOURNAL Kidney Int. 83 (1), 63-71 (2013) PUBMED 22913984 REMARK GeneRIF: Three neuronal proteins (Huntingtin interacting protein 1, neurofascin, and olfactomedin-like 2a) are novel components of podocyte major processes and their expression in glomerular crescents supports their role in crescent formation. REFERENCE 3 (bases 1 to 2527) AUTHORS Buttermore,E.D., Piochon,C., Wallace,M.L., Philpot,B.D., Hansel,C. and Bhat,M.A. TITLE Pinceau organization in the cerebellum requires distinct functions of neurofascin in Purkinje and basket neurons during postnatal development JOURNAL J. Neurosci. 32 (14), 4724-4742 (2012) PUBMED 22492029 REMARK GeneRIF: Cerebellar pinceau organization requires coordinated mechanisms involving specific neurofascin functions in both Purkinje and basket neurons. REFERENCE 4 (bases 1 to 2527) AUTHORS Devaux,J.J., Odaka,M. and Yuki,N. TITLE Nodal proteins are target antigens in Guillain-Barre syndrome JOURNAL J. Peripher. Nerv. Syst. 17 (1), 62-71 (2012) PUBMED 22462667 REMARK GeneRIF: gliomedin, NF186, and contactin are novel target antigens in Guillain-Barre syndrome REFERENCE 5 (bases 1 to 2527) AUTHORS Tuvia,S., Garver,T.D. and Bennett,V. TITLE The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation JOURNAL Proc. Natl. Acad. Sci. U.S.A. 94 (24), 12957-12962 (1997) PUBMED 9371782 REFERENCE 6 (bases 1 to 2527) AUTHORS Davis,J.Q., Lambert,S. and Bennett,V. TITLE Molecular composition of the node of Ranvier: identification of ankyrin-binding cell adhesion molecules neurofascin (mucin+/third FNIII domain-) and NrCAM at nodal axon segments JOURNAL J. Cell Biol. 135 (5), 1355-1367 (1996) PUBMED 8947556 REFERENCE 7 (bases 1 to 2527) AUTHORS Volkmer,H., Leuschner,R., Zacharias,U. and Rathjen,F.G. TITLE Neurofascin induces neurites by heterophilic interactions with axonal NrCAM while NrCAM requires F11 on the axonal surface to extend neurites JOURNAL J. Cell Biol. 135 (4), 1059-1069 (1996) PUBMED 8922386 REFERENCE 8 (bases 1 to 2527) AUTHORS Hortsch,M. TITLE The L1 family of neural cell adhesion molecules: old proteins performing new tricks JOURNAL Neuron 17 (4), 587-593 (1996) PUBMED 8893017 REMARK Review article REFERENCE 9 (bases 1 to 2527) AUTHORS Burmeister,M., Ren,Q., Makris,G.J., Samson,D. and Bennett,V. TITLE Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes JOURNAL Mamm. Genome 7 (7), 558-559 (1996) PUBMED 8672144 REFERENCE 10 (bases 1 to 2527) AUTHORS Volkmer,H., Hassel,B., Wolff,J.M., Frank,R. and Rathjen,F.G. TITLE Structure of the axonal surface recognition molecule neurofascin and its relationship to a neural subgroup of the immunoglobulin superfamily JOURNAL J. Cell Biol. 118 (1), 149-161 (1992) PUBMED 1377696 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC040674.1, AK090639.1 and AA514945.1. Summary: 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 axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]. Transcript Variant: This variant (5) uses an alternate 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (5) has a substantially shorter and distinct C-terminus that lacks the fibronectin domains, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK090639.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025086, ERS025088 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: downstream AUG is associated with N-terminal localization signal ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-41 BC040674.1 6-46 42-2503 AK090639.1 1-2462 2504-2527 AA514945.1 1-24 c FEATURES Location/Qualifiers source 1..2527 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q32.1" gene 1..2527 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="neurofascin" /db_xref="GeneID:23114" /db_xref="HGNC:29866" /db_xref="MIM:609145" exon 1..129 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" exon 130..238 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 145 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:184776653" variation 195 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:142757146" variation 217 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:12128657" exon 239..419 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 243 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:79130984" variation 282 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:368003381" variation 307 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:201417276" variation 310 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:372878722" CDS 329..2188 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="isoform 5 precursor is encoded by transcript variant 5; neurofascin homolog" /codon_start=1 /product="neurofascin isoform 5 precursor" /protein_id="NP_001005389.2" /db_xref="GI:237858680" /db_xref="CCDS:CCDS53461.1" /db_xref="GeneID:23114" /db_xref="HGNC:29866" /db_xref="MIM:609145" /translation="
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLGNCPCSPWH
" sig_peptide 329..400 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 401..2185 /gene="NFASC" /gene_synonym="NF; NRCAML" /product="neurofascin isoform 5" misc_feature 449..736 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin I-set domain; Region: I-set; pfam07679" /db_xref="CDD:191810" misc_feature 503..733 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Sixth immunoglobulin (Ig)-like domain of human neurofascin (NF); Region: Ig6_hNeurofascin_like; cd05875" /db_xref="CDD:143283" misc_feature 746..1024 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin domain; Region: Ig; cl11960" /db_xref="CDD:213125" misc_feature 1109..1327 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin I-set domain; Region: I-set; pfam07679" /db_xref="CDD:191810" misc_feature 1118..1330 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM); Region: Ig3_L1-CAM_like; cd05731" /db_xref="CDD:143208" misc_feature 1337..1603 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin I-set domain; Region: I-set; pfam07679" /db_xref="CDD:191810" misc_feature 1379..1606 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Fourth immunoglobulin (Ig)-like domain of L1, Ng-CAM (Neuron-glia CAM cell adhesion molecule), and NrCAM (Ng-CAM-related); Region: Ig4_L1-NrCAM_like; cd04978" /db_xref="CDD:143179" misc_feature 1673..1852 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin C-2 Type; Region: IGc2; smart00408" /db_xref="CDD:197706" misc_feature 1910..2155 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin I-set domain; Region: I-set; pfam07679" /db_xref="CDD:191810" misc_feature 1910..2155 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin; Region: IG; smart00409" /db_xref="CDD:197707" variation 345 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:147777257" variation 349 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:149873707" variation 350 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:375852982" variation 367 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:149111254" variation 394 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:138639366" variation 395 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:145678100" variation 419 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:375813060" exon 420..437 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 432 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:142497407" variation 437 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:375286397" exon 438..543 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 442 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:111823167" variation 448 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:141859066" variation 461 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:138945016" variation 485 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:188580609" exon 544..740 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 580 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:375752918" variation 594 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:144793383" variation 619 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:139082842" variation 623 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:145530574" variation 634 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:147387188" variation 646 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:142536240" variation 654 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:149736553" variation 655 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:202239718" variation 699 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:374043011" variation 706 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:140357522" variation 717 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:376957828" variation 725 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:145437187" variation 733 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:370974341" exon 741..863 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 760 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:200777181" variation 778 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:149151832" variation 793 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:148289271" variation 794 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:138530492" variation 804 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:3795564" variation 823 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:77635708" variation 841 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:202108157" exon 864..1034 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 879 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:199573837" variation 880 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:148604570" variation 891 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:374498456" variation 910 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:368438179" variation 931 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:371908973" variation 955 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:374961734" variation 973 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:200301998" variation 991 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:61741836" variation 995 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:142051080" variation 1010 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:199838875" exon 1035..1146 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1053 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:374629132" variation 1054 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:199749786" variation 1086 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:368489529" variation 1087 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:190388030" variation 1136 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:371635013" variation 1141 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:140997318" exon 1147..1331 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1151 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:145749720" variation 1164 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:148937906" variation 1203..1204 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="" /replace="g" /db_xref="dbSNP:5780257" variation 1227 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:201375081" variation 1232 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:144049714" variation 1237 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:146782515" variation 1256 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:150544095" variation 1305 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:376800898" variation 1311 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:139508953" variation 1312 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:369720213" variation 1317 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:201302248" exon 1332..1463 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1351 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:6690894" variation 1385 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:144130749" variation 1386 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:372412019" variation 1410 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:192722996" exon 1464..1607 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1465 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:148671147" variation 1515 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:374469419" variation 1588 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:61743235" exon 1608..1719 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1614 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:367856348" variation 1615 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:147657218" variation 1634 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:146896570" variation 1658 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:138932973" variation 1663 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:147248519" variation 1672 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:140756489" variation 1673 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:184631101" variation 1694 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:74923443" exon 1720..1886 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1720 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:146893759" variation 1739 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:146186869" variation 1744 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:137866492" variation 1769 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:370227820" variation 1777 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:202095107" variation 1779 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:188695414" variation 1784 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:368738014" variation 1806 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:372885367" variation 1837 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:16854838" variation 1860 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:374505792" variation 1865 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:371915587" variation 1871 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:149731085" variation 1882 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:2246662" exon 1887..2034 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1890 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:199525304" variation 1904 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:377722677" variation 1905 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:184503324" variation 1912 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:374003117" variation 1913 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:202070693" variation 1920 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:147673215" variation 1922 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:371036080" variation 1929 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:56223230" variation 1942 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:55969362" variation 1962 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:202061387" variation 1968 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:374030108" variation 1970 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:377578078" variation 1975 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:370657324" variation 1985 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:138252161" variation 1989 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:373916599" variation 1990 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:200842368" variation 2016 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:137927139" variation 2020 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:143870626" variation 2024 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:55778126" exon 2035..2510 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 2050 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:55726173" variation 2057 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:186193782" variation 2107 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:17415240" variation 2117 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:371450457" variation 2153 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:113197466" variation 2170 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:6657372" variation 2210 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:199553059" variation 2229 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:368097776" variation 2278 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:77159058" variation 2343 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:150050660" variation 2389 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:189303311" variation 2434..2435 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="" /replace="t" /db_xref="dbSNP:35570217" polyA_signal 2485..2490 /gene="NFASC" /gene_synonym="NF; NRCAML" polyA_site 2510 /gene="NFASC" /gene_synonym="NF; NRCAML" ORIGIN
gcacgggctggtctctgccctaatgcggcggctggcggcgagaggcgctgcaggggacgcgggggaagtggcggcgccggcagcggacagctcggacagcgcccagggccggagcccgagcccttggaggttgattgacttatgtgcaatttgggacgctggagtttaccttccctccgcagcctggaacagagcctcctctggtgttgcaaggaagaggctgaatgaggcagagaagctgagtgctgtccaggaggcccagttaaagcggctcgaggtgacaagaccccgagtgctggggagcagggagcagggccaggtgccgaggatggccaggcagccaccgccgccctgggtccatgcagccttcctcctctgcctcctcagtcttggcggagccatcgaaattcctatggatccaagcattcagaatgagctgacgcagccgccaaccatcaccaagcagtcagcgaaggatcacatcgtggacccccgtgataacatcctgattgagtgtgaagcaaaagggaaccctgcccccagcttccactggacacgaaacagcagattcttcaacatcgccaaggacccccgggtgtccatgaggaggaggtctgggaccctggtgattgacttccgcagtggcgggcggccggaggaatatgagggggaatatcagtgcttcgcccgcaacaaatttggcacggccctgtccaataggatccgcctgcaggtgtctaaatctcctctgtggcccaaggaaaacctagaccctgtcgtggtccaagagggcgctcctttgacgctccagtgcaaccccccgcctggacttccatccccggtcatcttctggatgagcagctccatggagcccatcacccaagacaaacgtgtctctcagggccataacggagacctatacttctccaacgtgatgctgcaggacatgcagaccgactacagttgtaacgcccgcttccacttcacccacaccatccagcagaagaaccctttcaccctcaaggtcctcaccacccgaggagttgcagaaagaacaccaagcttcatgtatccccagggcaccgcgagcagccagatggtgcttcgtggcatggacctcctgctggaatgcatcgcctccggggtcccaacaccagacatcgcatggtacaagaaaggtggggacctcccatctgataaggccaagtttgagaactttaataaggccctgcgtatcacaaatgtctctgaggaagactccggggagtatttctgcctggcctccaacaagatgggcagcatccggcacacgatctcggtgagagtaaaggctgctccctactggctggacgaacccaagaaccttattctggctcctggcgaggatgggagactggtgtgtcgagccaatggaaaccccaaacccactgtccagtggatggtgaatggggaacctttgcaatcggcaccacctaacccaaaccgtgaggtggccggagacaccatcatcttccgggacacccagatcagcagcagggctgtgtaccagtgcaacacctccaacgagcatggctacctgctggccaacgcctttgtcagtgtgctggatgtgccgcctcggatgctgtcgccccggaaccagctcattcgagtgattctttacaaccggacgcggctggactgccctttctttgggtctcccatccccacactgcgatggtttaagaatgggcaaggaagcaacctggatggtggcaactaccatgtttatgagaacggcagtctggaaattaagatgatccgcaaagaggaccagggcatctacacctgtgtcgccaccaacatcctgggcaaagctgaaaaccaagtccgcctggaggtcaaagaccccaccaggatctaccggatgcccgaggaccaggtggccagaaggggcaccacggtgcagctggagtgtcgggtgaagcacgacccctccctgaaactcaccgtctcctggctgaaggatgacgagccgctctatattggaaacaggatgaagaaggaagacgactccctgaccatctttggggtggcagagcgggaccagggcagttacacgtgtgtcgccagcaccgagctagaccaagacctggccaaggcctacctcaccgtgctaggtaactgcccatgctcaccctggcactgaccagccccaccccctccccagcagccagagaagcagtggcccggggcagttccgagggcagtgcctgcagtcaagtggccgggtcaggcgtggtgatctcttcttgcctcgtgatgtcagggttagggagctgccagtttcagaacaagctgtgctggacaggttacctcctgagtggagtcattaacttccccacgtctcaactgaaaggggcctgagtgatatagagaaagtggagaggggtttctcgttgtgatcattttacctttcttacagctaactccaccactaagtcaattaaaacaatccatccttaaagcaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:23114 -> Molecular function: GO:0086080 [protein binding involved in heterotypic cell-cell adhesion] evidence: IEA GeneID:23114 -> Biological process: GO:0002175 [protein localization to paranode region of axon] evidence: IEA GeneID:23114 -> Biological process: GO:0007411 [axon guidance] evidence: TAS GeneID:23114 -> Biological process: GO:0007422 [peripheral nervous system development] evidence: ISS GeneID:23114 -> Biological process: GO:0030913 [paranodal junction assembly] evidence: IEA GeneID:23114 -> Biological process: GO:0042552 [myelination] evidence: ISS GeneID:23114 -> Biological process: GO:0045162 [clustering of voltage-gated sodium channels] evidence: IEA GeneID:23114 -> Biological process: GO:0050808 [synapse organization] evidence: IEA GeneID:23114 -> Biological process: GO:0071205 [protein localization to juxtaparanode region of axon] evidence: IEA GeneID:23114 -> Biological process: GO:0072661 [protein targeting to plasma membrane] evidence: IEA GeneID:23114 -> Cellular component: GO:0005622 [intracellular] evidence: ISS GeneID:23114 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS GeneID:23114 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:23114 -> Cellular component: GO:0033010 [paranodal junction] evidence: IEA GeneID:23114 -> Cellular component: GO:0033268 [node of Ranvier] evidence: ISS GeneID:23114 -> Cellular component: GO:0033268 [node of Ranvier] evidence: TAS GeneID:23114 -> Cellular component: GO:0033270 [paranode region of axon] evidence: IEA GeneID:23114 -> Cellular component: GO:0043194 [axon initial segment] evidence: ISS
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