2024-04-26 07:50:22, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001160333 2509 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens neurofascin (NFASC), transcript variant 6, mRNA. ACCESSION NM_001160333 VERSION NM_001160333.1 GI:237858681 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 2509) 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 2509) 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 2509) 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 2509) 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 2509) 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 2509) 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 2509) 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 2509) 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 2509) 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 2509) 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, AK299262.1, 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 (6) lacks the second coding exon and uses an alternate 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (5) lacks an internal domain and 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 :: AK299262.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025083 [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 1-21 BC040674.1 6-26 22-1863 AK299262.1 1-1842 1864-2485 AK090639.1 1841-2462 2486-2509 AA514945.1 1-24 c FEATURES Location/Qualifiers source 1..2509 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q32.1" gene 1..2509 /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..2170 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="isoform 6 precursor is encoded by transcript variant 6; neurofascin homolog" /codon_start=1 /product="neurofascin isoform 6 precursor" /protein_id="NP_001153805.1" /db_xref="GI:237858682" /db_xref="GeneID:23114" /db_xref="HGNC:29866" /db_xref="MIM:609145" /translation="
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDLTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLGNCPCSPWH
" sig_peptide 329..400 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 401..2167 /gene="NFASC" /gene_synonym="NF; NRCAML" /product="neurofascin isoform 6" misc_feature 431..718 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin I-set domain; Region: I-set; pfam07679" /db_xref="CDD:191810" misc_feature 485..715 /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 728..1006 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin domain; Region: Ig; cl11960" /db_xref="CDD:213125" misc_feature 1091..1309 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin I-set domain; Region: I-set; pfam07679" /db_xref="CDD:191810" misc_feature 1100..1312 /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 1319..1585 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin I-set domain; Region: I-set; pfam07679" /db_xref="CDD:191810" misc_feature 1361..1588 /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 1655..1834 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin C-2 Type; Region: IGc2; smart00408" /db_xref="CDD:197706" misc_feature 1892..2137 /gene="NFASC" /gene_synonym="NF; NRCAML" /note="Immunoglobulin I-set domain; Region: I-set; pfam07679" /db_xref="CDD:191810" misc_feature 1892..2137 /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..525 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 424 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:111823167" variation 430 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:141859066" variation 443 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:138945016" variation 467 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:188580609" exon 526..722 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 562 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:375752918" variation 576 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:144793383" variation 601 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:139082842" variation 605 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:145530574" variation 616 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:147387188" variation 628 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:142536240" variation 636 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:149736553" variation 637 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:202239718" variation 681 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:374043011" variation 688 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:140357522" variation 699 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:376957828" variation 707 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:145437187" variation 715 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:370974341" exon 723..845 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 742 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:200777181" variation 760 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:149151832" variation 775 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:148289271" variation 776 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:138530492" variation 786 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:3795564" variation 805 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:77635708" variation 823 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:202108157" exon 846..1016 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 861 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:199573837" variation 862 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:148604570" variation 873 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:374498456" variation 892 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:368438179" variation 913 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:371908973" variation 937 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:374961734" variation 955 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:200301998" variation 973 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:61741836" variation 977 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:142051080" variation 992 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:199838875" exon 1017..1128 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1035 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:374629132" variation 1036 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:199749786" variation 1068 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:368489529" variation 1069 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:190388030" variation 1118 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:371635013" variation 1123 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:140997318" exon 1129..1313 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1133 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:145749720" variation 1146 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:148937906" variation 1185..1186 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="" /replace="g" /db_xref="dbSNP:5780257" variation 1209 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:201375081" variation 1214 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:144049714" variation 1219 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:146782515" variation 1238 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:150544095" variation 1287 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:376800898" variation 1293 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:139508953" variation 1294 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:369720213" variation 1299 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:201302248" exon 1314..1445 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1333 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:6690894" variation 1367 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:144130749" variation 1368 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:372412019" variation 1392 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:192722996" exon 1446..1589 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1447 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:148671147" variation 1497 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:374469419" variation 1570 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:61743235" exon 1590..1701 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1596 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:367856348" variation 1597 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:147657218" variation 1616 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:146896570" variation 1640 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:138932973" variation 1645 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:147248519" variation 1654 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:140756489" variation 1655 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:184631101" variation 1676 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:74923443" exon 1702..1868 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1702 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:146893759" variation 1721 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:146186869" variation 1726 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:137866492" variation 1751 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:370227820" variation 1759 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:202095107" variation 1761 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:188695414" variation 1766 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:368738014" variation 1788 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:372885367" variation 1819 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:16854838" variation 1842 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:374505792" variation 1847 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:371915587" variation 1853 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:149731085" variation 1864 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:2246662" exon 1869..2016 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 1872 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:199525304" variation 1886 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:377722677" variation 1887 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:184503324" variation 1894 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:374003117" variation 1895 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:202070693" variation 1902 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:147673215" variation 1904 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:371036080" variation 1911 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:56223230" variation 1924 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:55969362" variation 1944 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="g" /replace="t" /db_xref="dbSNP:202061387" variation 1950 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:374030108" variation 1952 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:377578078" variation 1957 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:370657324" variation 1967 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:138252161" variation 1971 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:373916599" variation 1972 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:200842368" variation 1998 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:137927139" variation 2002 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="g" /db_xref="dbSNP:143870626" variation 2006 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:55778126" exon 2017..2492 /gene="NFASC" /gene_synonym="NF; NRCAML" /inference="alignment:Splign:1.39.8" variation 2032 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:55726173" variation 2039 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:186193782" variation 2089 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:17415240" variation 2099 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:371450457" variation 2135 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:113197466" variation 2152 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /db_xref="dbSNP:6657372" variation 2192 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:199553059" variation 2211 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:368097776" variation 2260 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:77159058" variation 2325 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="a" /replace="c" /db_xref="dbSNP:150050660" variation 2371 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="c" /replace="t" /db_xref="dbSNP:189303311" variation 2416..2417 /gene="NFASC" /gene_synonym="NF; NRCAML" /replace="" /replace="t" /db_xref="dbSNP:35570217" polyA_signal 2467..2472 /gene="NFASC" /gene_synonym="NF; NRCAML" polyA_site 2492 /gene="NFASC" /gene_synonym="NF; NRCAML" ORIGIN
gcacgggctggtctctgccctaatgcggcggctggcggcgagaggcgctgcaggggacgcgggggaagtggcggcgccggcagcggacagctcggacagcgcccagggccggagcccgagcccttggaggttgattgacttatgtgcaatttgggacgctggagtttaccttccctccgcagcctggaacagagcctcctctggtgttgcaaggaagaggctgaatgaggcagagaagctgagtgctgtccaggaggcccagttaaagcggctcgaggtgacaagaccccgagtgctggggagcagggagcagggccaggtgccgaggatggccaggcagccaccgccgccctgggtccatgcagccttcctcctctgcctcctcagtcttggcggagccatcgaaattcctatggatctgacgcagccgccaaccatcaccaagcagtcagcgaaggatcacatcgtggacccccgtgataacatcctgattgagtgtgaagcaaaagggaaccctgcccccagcttccactggacacgaaacagcagattcttcaacatcgccaaggacccccgggtgtccatgaggaggaggtctgggaccctggtgattgacttccgcagtggcgggcggccggaggaatatgagggggaatatcagtgcttcgcccgcaacaaatttggcacggccctgtccaataggatccgcctgcaggtgtctaaatctcctctgtggcccaaggaaaacctagaccctgtcgtggtccaagagggcgctcctttgacgctccagtgcaaccccccgcctggacttccatccccggtcatcttctggatgagcagctccatggagcccatcacccaagacaaacgtgtctctcagggccataacggagacctatacttctccaacgtgatgctgcaggacatgcagaccgactacagttgtaacgcccgcttccacttcacccacaccatccagcagaagaaccctttcaccctcaaggtcctcaccacccgaggagttgcagaaagaacaccaagcttcatgtatccccagggcaccgcgagcagccagatggtgcttcgtggcatggacctcctgctggaatgcatcgcctccggggtcccaacaccagacatcgcatggtacaagaaaggtggggacctcccatctgataaggccaagtttgagaactttaataaggccctgcgtatcacaaatgtctctgaggaagactccggggagtatttctgcctggcctccaacaagatgggcagcatccggcacacgatctcggtgagagtaaaggctgctccctactggctggacgaacccaagaaccttattctggctcctggcgaggatgggagactggtgtgtcgagccaatggaaaccccaaacccactgtccagtggatggtgaatggggaacctttgcaatcggcaccacctaacccaaaccgtgaggtggccggagacaccatcatcttccgggacacccagatcagcagcagggctgtgtaccagtgcaacacctccaacgagcatggctacctgctggccaacgcctttgtcagtgtgctggatgtgccgcctcggatgctgtcgccccggaaccagctcattcgagtgattctttacaaccggacgcggctggactgccctttctttgggtctcccatccccacactgcgatggtttaagaatgggcaaggaagcaacctggatggtggcaactaccatgtttatgagaacggcagtctggaaattaagatgatccgcaaagaggaccagggcatctacacctgtgtcgccaccaacatcctgggcaaagctgaaaaccaagtccgcctggaggtcaaagaccccaccaggatctaccggatgcccgaggaccaggtggccagaaggggcaccacggtgcagctggagtgtcgggtgaagcacgacccctccctgaaactcaccgtctcctggctgaaggatgacgagccgctctatattggaaacaggatgaagaaggaagacgactccctgaccatctttggggtggcagagcgggaccagggcagttacacgtgtgtcgccagcaccgagctagaccaagacctggccaaggcctacctcaccgtgctaggtaactgcccatgctcaccctggcactgaccagccccaccccctccccagcagccagagaagcagtggcccggggcagttccgagggcagtgcctgcagtcaagtggccgggtcaggcgtggtgatctcttcttgcctcgtgatgtcagggttagggagctgccagtttcagaacaagctgtgctggacaggttacctcctgagtggagtcattaacttccccacgtctcaactgaaaggggcctgagtgatatagagaaagtggagaggggtttctcgttgtgatcattttacctttcttacagctaactccaccactaagtcaattaaaacaatccatccttaaagcaaaaaaaaaaaaaaaaaaa
//
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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