Homo sapiens (human): 4763 Help Entry 4763              CDS       T01001                                  Symbol NF1, NFNS, VRNF, WSS Name (RefSeq) neurofibromin 1   KO K08052   neurofibromin 1 Organism hsa  Homo sapiens (human) Pathway hsa01521   EGFR tyrosine kinase inhibitor resistance hsa04010   MAPK signaling pathway hsa04014   Ras signaling pathway Network nt06526  MAPK signaling   Element N01597   Regulation of GF-RTK-RAS-ERK signaling, SPRED and NF1 Disease H00523   Noonan syndrome and related disorders H01437   Neurofibromatosis type 1 H01510   Malignant paraganglioma H02188   Watson syndrome H02189   Neurofibromatosis-Noonan syndrome H02410   Myelodysplastic/myeloproliferative neoplasms H02541   Juvenile myelomonocytic leukemia Brite KEGG Orthology (KO) [BR:hsa00001]  09130 Environmental Information Processing   09132 Signal transduction    04010 MAPK signaling pathway     4763 (NF1)    04014 Ras signaling pathway     4763 (NF1)  09160 Human Diseases   09176 Drug resistance: antineoplastic    01521 EGFR tyrosine kinase inhibitor resistance     4763 (NF1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  PH_NF1 RasGAP CRAL_TRIO_2 CRAL_TRIO MIF4G_like_2 Motif Other DBs NCBI-GeneID:  4763 NCBI-ProteinID:  NP_001035957 OMIM:  613113 HGNC:  7765 Ensembl:  ENSG00000196712 UniProt:  P21359 Structure PDB LinkDB All DBs Position 17:31094927..31377677 Genome browser AA seq 2839 aa AA seqDB search MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTT ILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHF LHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQT DMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFL DSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNP SKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITN SALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEK PTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPE IAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWL REILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRK GKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIR CGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDT HAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINM TGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLS LMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQF VEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVE VMMARRDDLSFCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLL AGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLAS LRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETV LADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNM FSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFE VDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKA TVKEKKENKKSVVSQRFPQNSIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLK LMSKILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFIS DGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWS SLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQING DLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIY NCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVF HNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFT LTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALL NLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEP HLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLIT MTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALAS GNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHL PYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPK FYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDI PTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLK GPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQ NLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRH PSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKS LLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARK SMSLDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEME TQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILY EYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQT SYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTS PYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQ VQKQRSAGSFKRNSIKKIV NT seq 8520 nt NT seq  +upstreamnt  +downstreamnt atggccgcgcacaggccggtggaatgggtccaggccgtggtcagccgcttcgacgagcag cttccaataaaaacaggacagcagaacacacataccaaagtcagtactgagcacaacaag gaatgtctaatcaatatttccaaatacaagttttctttggttataagcggcctcactact attttaaagaatgttaacaatatgagaatatttggagaagctgctgaaaaaaatttatat ctctctcagttgattatattggatacactggaaaaatgtcttgctgggcaaccaaaggac acaatgagattagatgaaacgatgctggtcaaacagttgctgccagaaatctgccatttt cttcacacctgtcgtgaaggaaaccagcatgcagctgaacttcggaattctgcctctggg gttttattttctctcagctgcaacaacttcaatgcagtctttagtcgcatttctaccagg ttacaggaattaactgtttgttcagaagacaatgttgatgttcatgatatagaattgtta cagtatatcaatgtggattgtgcaaaattaaaacgactcctgaaggaaacagcatttaaa tttaaagccctaaagaaggttgcgcagttagcagttataaatagcctggaaaaggcattt tggaactgggtagaaaattatccagatgaatttacaaaactgtaccagatcccacagact gatatggctgaatgtgcagaaaagctatttgacttggtggatggttttgctgaaagcacc aaacgtaaagcagcagtttggccactacaaatcattctccttatcttgtgtccagaaata atccaggatatatccaaagacgtggttgatgaaaacaacatgaataagaagttatttctg gacagtctacgaaaagctcttgctggccatggaggaagtaggcagctgacagaaagtgct gcaattgcctgtgtcaaactgtgtaaagcaagtacttacatcaattgggaagataactct gtcattttcctacttgttcagtccatggtggttgatcttaagaacctgctttttaatcca agtaagccattctcaagaggcagtcagcctgcagatgtggatctaatgattgactgcctt gtttcttgctttcgtataagccctcacaacaaccaacactttaagatctgcctggctcag aattcaccttctacatttcactatgtgctggtaaattcactccatcgaatcatcaccaat tccgcattggattggtggcctaagattgatgctgtgtattgtcactcggttgaacttcga aatatgtttggtgaaacacttcataaagcagtgcaaggttgtggagcacacccagcaata cgaatggcaccgagtcttacatttaaagaaaaagtaacaagccttaaatttaaagaaaaa cctacagacctggagacaagaagctataagtatcttctcttgtccatggtgaaactaatt catgcagatccaaagctcttgctttgtaatccaagaaaacaggggcccgaaacccaaggc agtacagcagaattaattacagggctcgtccaactggtccctcagtcacacatgccagag attgctcaggaagcaatggaggctctgctggttcttcatcagttagatagcattgatttg tggaatcctgatgctcctgtagaaacattttgggagattagctcacaaatgcttttttac atctgcaagaaattaactagtcatcaaatgcttagtagcacagaaattctcaagtggttg cgggaaatattgatctgcaggaataaatttcttcttaaaaataagcaggcagatagaagt tcctgtcactttctccttttttacggggtaggatgtgatattccttctagtggaaatacc agtcaaatgtccatggatcatgaagaattactacgtactcctggagcctctctccggaag ggaaaagggaactcctctatggatagtgcagcaggatgcagcggaacccccccgatttgc cgacaagcccagaccaaactagaagtggccctgtacatgtttctgtggaaccctgacact gaagctgttctggttgccatgtcctgtttccgccacctctgtgaggaagcagatatccgg tgtggggtggatgaagtgtcagtgcataacctcttgcccaactataacacattcatggag tttgcctctgtcagcaatatgatgtcaacaggaagagcagcacttcagaaaagagtgatg gcactgctgaggcgcattgagcatcccactgcaggaaacactgaggcttgggaagataca catgcaaaatgggaacaagcaacaaagctaatccttaactatccaaaagccaaaatggaa gatggccaggctgctgaaagccttcacaagaccattgttaagaggcgaatgtcccatgtg agtggaggaggatccatagatttgtctgacacagactccctacaggaatggatcaacatg actggcttcctttgtgcccttgggggagtgtgcctccagcagagaagcaattctggcctg gcaacctatagcccacccatgggtccagtcagtgaacgtaagggttctatgatttcagtg atgtcttcagagggaaacgcagatacacctgtcagcaaatttatggatcggctgttgtcc ttaatggtgtgtaaccatgagaaagtgggacttcaaatacggaccaatgttaaggatctg gtgggtctagaattgagtcctgctctgtatccaatgctatttaacaaattgaagaatacc atcagcaagttttttgactcccaaggacaggttttattgactgataccaatactcaattt gtagaacaaaccatagctataatgaagaacttgctagataatcatactgaaggcagctct gaacatctagggcaagctagcattgaaacaatgatgttaaatctggtcaggtatgttcgt gtgcttgggaatatggtccatgcaattcaaataaaaacgaaactgtgtcaattagttgaa gtaatgatggcaaggagagatgacctctcattttgccaagagatgaaatttaggaataag atggtagaatacctgacagactgggttatgggaacatcaaaccaagcagcagatgatgat gtaaaatgtcttacaagagatttggaccaggcaagcatggaagcagtagtttcacttcta gctggtctccctctgcagcctgaagaaggagatggtgtggaattgatggaagccaaatca cagttatttcttaaatacttcacattatttatgaaccttttgaatgactgcagtgaagtt gaagatgaaagtgcgcaaacaggtggcaggaaacgtggcatgtctcggaggctggcatca ctgaggcactgtacggtccttgcaatgtcaaacttactcaatgccaacgtagacagtggt ctcatgcactccataggcttaggttaccacaaggatctccagacaagagctacatttatg gaagttctgacaaaaatccttcaacaaggcacagaatttgacacacttgcagaaacagta ttggctgatcggtttgagagattggtggaactggtcacaatgatgggtgatcaaggagaa ctccctatagcgatggctctggccaatgtggttccttgttctcagtgggatgaactagct cgagttctggttactctgtttgattctcggcatttactctaccaactgctctggaacatg ttttctaaagaagtagaattggcagactccatgcagactctcttccgaggcaacagcttg gccagtaaaataatgacattctgtttcaaggtatatggtgctacctatctacaaaaactc ctggatcctttattacgaattgtgatcacatcctctgattggcaacatgttagctttgaa gtggatcctaccaggttagaaccatcagagagccttgaggaaaaccagcggaacctcctt cagatgactgaaaagttcttccatgccatcatcagttcctcctcagaattcccccctcaa cttcgaagtgtgtgccactgtttataccaggcaacttgccactccctactgaataaagct acagtaaaagaaaaaaaggaaaacaaaaaatcagtggttagccagcgtttccctcagaac agcatcggtgcagtaggaagtgccatgttcctcagatttatcaatcctgccattgtctca ccgtatgaagcagggattttagataaaaagccaccacctagaatcgaaaggggcttgaag ttaatgtcaaagatacttcagagtattgccaatcatgttctcttcacaaaagaagaacat atgcggcctttcaatgattttgtgaaaagcaactttgatgcagcacgcaggtttttcctt gatatagcatctgattgtcctacaagtgatgcagtaaatcatagtctttccttcataagt gacggcaatgtgcttgctttacatcgtctactctggaacaatcaggagaaaattgggcag tatctttccagcaacagggatcataaagctgttggaagacgaccttttgataagatggca acacttcttgcatacctgggtcctccagagcacaaacctgtggcagatacacactggtcc agccttaaccttaccagttcaaagtttgaggaatttatgactaggcatcaggtacatgaa aaagaagaattcaaggctttgaaaacgttaagtattttctaccaagctgggacttccaaa gctgggaatcctattttttattatgttgcacggaggttcaaaactggtcaaatcaatggt gatttgctgatataccatgtcttactgactttaaagccatattatgcaaagccatatgaa attgtagtggaccttacccataccgggcctagcaatcgctttaaaacagactttctctct aagtggtttgttgtttttcctggctttgcttacgacaacgtctccgcagtctatatctat aactgtaactcctgggtcagggagtacaccaagtatcatgagcggctgctgactggcctc aaaggtagcaaaaggcttgttttcatagactgtcctgggaaactggctgagcacatagag catgaacaacagaaactacctgctgccaccttggctttagaagaggacctgaaggtattc cacaatgctctcaagctagctcacaaagacaccaaagtttctattaaagttggttctact gctgtccaagtaacttcagcagagcgaacaaaagtcctagggcaatcagtctttctaaat gacatttattatgcttcggaaattgaagaaatctgcctagtagatgagaaccagttcacc ttaaccattgcaaaccagggcacgccgctcaccttcatgcaccaggagtgtgaagccatt gtccagtctatcattcatatccggacccgctgggaactgtcacagcccgactctatcccc caacacaccaagattcggccaaaagatgtccctgggacactgctcaatatcgcattactt aatttaggcagttctgacccgagtttacggtcagctgcctataatcttctgtgtgcctta acttgtacctttaatttaaaaatcgagggccagttactagagacatcaggtttatgtatc cctgccaacaacaccctctttattgtctctattagtaagacactggcagccaatgagcca cacctcacgttagaatttttggaagagtgtatttctggatttagcaaatctagtattgaa ttgaaacacctttgtttggaatacatgactccatggctgtcaaatctagttcgtttttgc aagcataatgatgatgccaaacgacaaagagttactgctattcttgacaagctgataaca atgaccatcaatgaaaaacagatgtacccatctattcaagcaaaaatatggggaagcctt gggcagattacagatctgcttgatgttgtactagacagtttcatcaaaaccagtgcaaca ggtggcttgggatcaataaaagctgaggtgatggcagatactgctgtagctttggcttct ggaaatgtgaaattggtttcaagcaaggttattggaaggatgtgcaaaataattgacaag acatgcttatctccaactcctactttagaacaacatcttatgtgggatgatattgctatt ttagcacgctacatgctgatgctgtccttcaacaattcccttgatgtggcagctcatctt ccctacctcttccacgttgttactttcttagtagccacaggtccgctctcccttagagct tccacacatggactggtcattaatatcattcactctctgtgtacttgttcacagcttcat tttagtgaagagaccaagcaagttttgagactcagtctgacagagttctcattacccaaa ttttacttgctgtttggcattagcaaagtcaagtcagctgctgtcattgccttccgttcc agttaccgggacaggtcattctctcctggctcctatgagagagagacttttgctttgaca tccttggaaacagtcacagaagctttgttggagatcatggaggcatgcatgagagatatt ccaacgtgcaagtggctggaccagtggacagaactagctcaaagatttgcattccaatat aatccatccctgcaaccaagagctcttgttgtctttgggtgtattagcaaacgagtgtct catgggcagataaagcagataatccgtattcttagcaaggcacttgagagttgcttaaaa ggacctgacacttacaacagtcaagttctgatagaagctacagtaatagcactaaccaaa ttacagccacttcttaataaggactcgcctctgcacaaagccctcttttgggtagctgtg gctgtgctgcagcttgatgaggtcaacttgtattcagcaggtaccgcacttcttgaacaa aacctgcatactttagatagtctccgtatattcaatgacaagagtccagaggaagtattt atggcaatccggaatcctctggagtggcactgcaagcaaatggatcattttgttggactc aatttcaactctaactttaactttgcattggttggacaccttttaaaagggtacaggcat ccttcacctgctattgttgcaagaacagtcagaattttacatacactactaactctggtt aacaaacacagaaattgtgacaaatttgaagtgaatacacagagcgtggcctacttagca gctttacttacagtgtctgaagaagttcgaagtcgctgcagcctaaaacatagaaagtca cttcttcttactgatatttcaatggaaaatgttcctatggatacatatcccattcatcat ggtgacccttcctataggacactaaaggagactcagccatggtcctctcccaaaggttct gaaggataccttgcagccacctatccaactgtcggccagaccagtccccgagccaggaaa tccatgagcctggacatggggcaaccttctcaggccaacactaagaagttgcttggaaca aggaaaagttttgatcacttgatatcagacacaaaggctcctaaaaggcaagaaatggaa tcagggatcacaacaccccccaaaatgaggagagtagcagaaactgattatgaaatggaa actcagaggatttcctcatcacaacagcacccacatttacgtaaagtttcagtgtctgaa tcaaatgttctcttggatgaagaagtacttactgatccgaagatccaggcgctgcttctt actgttctagctacactggtaaaatataccacagatgagtttgatcaacgaattctttat gaatacttagcagaggccagtgttgtgtttcccaaagtctttcctgttgtgcataatttg ttggactctaagatcaacaccctgttatcattgtgccaagatccaaatttgttaaatcca atccatggaattgtgcagagtgtggtgtaccatgaagaatccccaccacaataccaaaca tcttacctgcaaagttttggttttaatggcttgtggcggtttgcaggaccgttttcaaag caaacacaaattccagactatgctgagcttattgttaagtttcttgatgccttgattgac acgtacctgcctggaattgatgaagaaaccagtgaagaatccctcctgactcccacatct ccttaccctcctgcactgcagagccagcttagtatcactgccaaccttaacctttctaat tccatgacctcacttgcaacttcccagcattccccaggaatcgacaaggagaacgttgaa ctctcccctaccactggccactgtaacagtggacgaactcgccacggatccgcaagccaa gtgcagaagcaaagaagcgctggcagtttcaaacgtaatagcattaagaagatcgtgtga

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