LOCUS HUMNF1AB 8959 bp mRNA PRI 07-JAN-1995 DEFINITION Human type 1 neurofibromatosis protein mRNA, complete cds. ACCESSION M82814 NID g189164 KEYWORDS NF1 GAP-related protein; NF1 gene product; type 1 neurofibromatosis protein. SOURCE Homo sapiens cDNA to mRNA. ORGANISM Homo sapiens Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata; Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 8959) AUTHORS Wallace,M.R., Marchuk,D.A., Andersen,L.B., Letcher,R., Odeh,H., Saulino,A.M., Fountain,J., Brereton,A., Nicholson,J., Mitchell,A., Brownstein,B.H. and Collins,F.S. TITLE Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients [published erratum appears in Science 1990 Dec 21;250(4988):1749] JOURNAL Science 249 (4965), 181-186 (1990) MEDLINE 90319792 REFERENCE 2 (bases 1 to 8959) AUTHORS Collins,F.S., Andersen,L.B., Marchuk,D.A. and Wallace,M.R. TITLE Type 1 neurofibromatosis gene: correction [letter] JOURNAL Science 250 (4988), 1749 (1990) MEDLINE 91102559 REFERENCE 3 (bases 1 to 8959) AUTHORS Marchuk,D.A., Saulino,A.M., Tavakkol,R., Swaroop,M., Wallace,M.R., Andersen,L.B., Mitchell,A.L., Gutmann,D.H., Boguski,M. and Collins,F.S. TITLE cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product JOURNAL Genomics 11 (4), 931-940 (1991) MEDLINE 92147138 FEATURES Location/Qualifiers source 1..8959 /organism="Homo sapiens" /db_xref="taxon:9606" gene 212..8668 /gene="NF1" CDS 212..8668 /gene="NF1" /note="putative" /codon_start=1 /product="GAP-related protein" /db_xref="PID:g189165" /translation="MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLI NISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTM RLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTR LQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEK AFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLIL CPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYI NWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQ HFKICLAQNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKA VQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLIHADPKLLL CNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAP VETFWEISSQMLFYICKKLTSHQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHF LLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTPPICRQ AQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFME FASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAK MEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGVCLQQRS NSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVGLQIR TNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQFVEQTIAIMKNLL DNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLS FCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPE EGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLASLRHCTV LAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETVLADR FERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNMFS KEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFE VDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQVVSQRFPQ NSIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTK EEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALHRLLWNNQ EKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFM TRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTL KPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREY TKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLA HKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIAN QGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLG SSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPH LTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLI TMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVA LASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLD VAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSL TEFSLPKFYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLE IMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIR ILSKALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDE VNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSN FNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALL TVSEEVRSRCSLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSE GYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEM ESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQA LLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDP NLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVK FLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHS PGIDKENVELSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV" BASE COUNT 2598 a 2024 c 1888 g 2449 t ORIGIN 1 ccccagcctc cttgccaacg ccccctttcc ctctccccct cccgctcggc gctgaccccc 61 catccccacc cccgtgggaa cactgggagc ctgcactcca cagaccctct ccttgcctct 121 tccctcacct cagcctccgc tccccgccct cttcccggcc cagggcgccg gcccaccctt 181 ccctccgccg ccccccggcc gcggggagga catggccgcg cacaggccgg tggaatgggt 241 ccaggccgtg gtcagccgct tcgacgagca gcttccaata aaaacaggac agcagaacac 301 acataccaaa gtcagtactg agcacaacaa ggaatgtcta atcaatattt ccaaatacaa 361 gttttctttg gttataagcg gcctcactac tattttaaag aatgttaaca atatgagaat 421 atttggagaa gctgctgaaa aaaatttata tctctctcag ttgattatat tggatacact 481 ggaaaaatgt cttgctgggc aaccaaagga cacaatgaga ttagatgaaa cgatgctggt 541 caaacagttg ctgccagaaa tctgccattt tcttcacacc tgtcgtgaag gaaaccagca 601 tgcagctgaa cttcggaatt ctgcctctgg ggttttattt tctctcagct gcaacaactt 661 caatgcagtc tttagtcgca tttctaccag gttacaggaa ttaactgttt gttcagaaga 721 caatgttgat gttcatgata tagaattgtt acagtatatc aatgtggatt gtgcaaaatt 781 aaaacgactc ctgaaggaaa cagcatttaa atttaaagcc ctaaagaagg ttgcgcagtt 841 agcagttata aatagcctgg aaaaggcatt ttggaactgg gtagaaaatt atccagatga 901 atttacaaaa ctgtaccaga tcccacagac tgatatggct gaatgtgcag aaaagctatt 961 tgacttggtg gatggttttg ctgaaagcac caaacgtaaa gcagcagttt ggccactaca 1021 aatcattctc cttatcttgt gtccagaaat aatccaggat atatccaaag acgtggttga 1081 tgaaaacaac atgaataaga agttatttct ggacagtcta cgaaaagctc ttgctggcca 1141 tggaggaagt aggcagctga cagaaagtgc tgcaattgcc tgtgtcaaac tgtgtaaagc 1201 aagtacttac atcaattggg aagataactc tgtcattttc ctacttgttc agtccatggt 1261 ggttgatctt aagaacctgc tttttaatcc aagtaagcca ttctcaagag gcagtcagcc 1321 tgcagatgtg gatctaatga ttgactgcct tgtttcttgc tttcgtataa gccctcacaa 1381 caaccaacac tttaagatct gcctggctca gaattcacct tctacatttc actatgtgct 1441 ggtaaattca ctccatcgaa tcatcaccaa ttccgcattg gattggtggc ctaagattga 1501 tgctgtgtat tgtcactcgg ttgaacttcg aaatatgttt ggtgaaacac ttcataaagc 1561 agtgcaaggt tgtggagcac acccagcaat acgaatggca ccgagtctta catttaaaga 1621 aaaagtaaca agccttaaat ttaaagaaaa acctacagac ctggagacaa gaagctataa 1681 gtatcttctc ttgtccatgg tgaaactaat tcatgcagat ccaaagctct tgctttgtaa 1741 tccaagaaaa caggggcccg aaacccaagg cagtacagca gaattaatta cagggctcgt 1801 ccaactggtc cctcagtcac acatgccaga gattgctcag gaagcaatgg aggctctgct 1861 ggttcttcat cagttagata gcattgattt gtggaatcct gatgctcctg tagaaacatt 1921 ttgggagatt agctcacaaa tgctttttta catctgcaag aaattaacta gtcatcaaat 1981 gcttagtagc acagaaattc tcaagtggtt gcgggaaata ttgatctgca ggaataaatt 2041 tcttcttaaa aataagcagg cagatagaag ttcctgtcac tttctccttt tttacggggt 2101 aggatgtgat attccttcta gtggaaatac cagtcaaatg tccatggatc atgaagaatt 2161 actacgtact cctggagcct ctctccggaa gggaaaaggg aactcctcta tggatagtgc 2221 agcaggatgc agcggaaccc ccccaatttg ccgacaagcc cagaccaaac tagaagtggc 2281 cctgtacatg tttctgtgga accctgacac tgaagctgtt ctggttgcca tgtcctgttt 2341 ccgccacctc tgtgaggaag cagatatccg gtgtggggtg gatgaagtgt cagtgcataa 2401 cctcttgccc aactataaca cattcatgga gtttgcctct gtcagcaata tgatgtcaac 2461 aggaagagca gcacttcaga aaagagtgat ggcactgctg aggcgcattg agcatcccac 2521 tgcaggaaac actgaggctt gggaagatac acatgcaaaa tgggaacaag caacaaagct 2581 aatccttaac tatccaaaag ccaaaatgga agatggccag gctgctgaaa gccttcacaa 2641 gaccattgtt aagaggcgaa tgtcccatgt gagtggagga ggatccatag atttgtctga 2701 cacagactcc ctacaggaat ggatcaacat gactggcttc ctttgtgccc ttggaggagt 2761 gtgcctccag cagagaagca attctggcct ggcaacctat agcccaccca tgggtccagt 2821 cagtgaacgt aagggttcta tgatttcagt gatgtcttca gagggaaacg cagatacacc 2881 tgtcagcaaa tttatggatc ggctgttgtc cttaatggtg tgtaaccatg agaaagtggg 2941 acttcaaata cggaccaatg ttaaggatct ggtgggtcta gaattgagtc ctgctctgta 3001 tccaatgcta tttaacaaat tgaagaatac catcagcaag ttttttgact cccaaggaca 3061 ggttttattg actgatacca atactcaatt tgtagaacaa accatagcta taatgaagaa 3121 cttgctagat aatcatactg aaggcagctc tgaacatcta gggcaagcta gcattgaaac 3181 aatgatgtta aatctggtca ggtatgttcg tgtgcttggg aatatggtcc atgcaattca 3241 aataaaaacg aaactgtgtc aattagttga agtaatgatg gcaaggagag atgacctctc 3301 attttgccaa gagatgaaat ttaggaataa gatggtagaa tacctgacag actgggttat 3361 gggaacatca aaccaagcag cagatgatga tgtaaaatgt cttacaagag atttggacca 3421 ggcaagcatg gaagcagtag tttcacttct agctggtctc cctctgcagc ctgaagaagg 3481 agatggtgtg gaattgatgg aagccaaatc acagttattt cttaaatact tcacattatt 3541 tatgaacctt ttgaatgact gcagtgaagt tgaagatgaa agtgcgcaaa caggtggcag 3601 gaaacgtggc atgtctcgga ggctggcatc actgaggcac tgtacggtcc ttgcaatgtc 3661 aaacttactc aatgccaacg tagacagtgg tctcatgcac tccataggct taggttacca 3721 caaggatctc cagacaagag ctacatttat ggaagttctg acaaaaatcc ttcaacaagg 3781 cacagaattt gacacacttg cagaaacagt attggctgat cggtttgaga gattggtgga 3841 actggtcaca atgatgggtg atcaaggaga actccctata gcgatggctc tggccaatgt 3901 ggttccttgt tctcagtggg atgaactagc tcgagttctg gttactctgt ttgattctcg 3961 gcatttactc taccaactgc tctggaacat gttttctaaa gaagtagaat tggcagactc 4021 catgcagact ctcttccgag gcaacagctt ggccagtaaa ataatgacat tctgtttcaa 4081 ggtatatggt gctacctatc tacaaaaact cctggatcct ttattacgaa ttgtgatcac 4141 atcctctgat tggcaacatg ttagctttga agtggatcct accaggttag aaccatcaga 4201 gagccttgag gaaaaccagc ggaacctcct tcagatgact gaaaagttct tccatgccat 4261 catcagttcc tcctcagaat tcccccctca acttcgaagt gtgtgccact gtttatacca 4321 ggtggttagc cagcgtttcc ctcagaacag catcggtgca gtaggaagtg ccatgttcct 4381 cagatttatc aatcctgcca ttgtctcacc gtatgaagca gggattttag ataaaaagcc 4441 accacctaga atcgaaaggg gcttgaagtt aatgtcaaag atacttcaga gtattgccaa 4501 tcatgttctc ttcacaaaag aagaacatat gcggcctttc aatgattttg tgaaaagcaa 4561 ctttgatgca gcacgcaggt ttttccttga tatagcatct gattgtccta caagtgatgc 4621 agtaaatcat agtctttcct tcataagtga cggcaatgtg cttgctttac atcgtctact 4681 ctggaacaat caggagaaaa ttgggcagta tctttccagc aacagggatc ataaagctgt 4741 tggaagacga ccttttgata agatggcaac acttcttgca tacctgggtc ctccagagca 4801 caaacctgtg gcagatacac actggtccag ccttaacctt accagttcaa agtttgagga 4861 atttatgact aggcatcagg tacatgaaaa agaagaattc aaggctttga aaacgttaag 4921 tattttctac caagctggga cttccaaagc tgggaatcct attttttatt atgttgcacg 4981 gaggttcaaa actggtcaaa tcaatggtga tttgctgata taccatgtct tactgacttt 5041 aaagccatat tatgcaaagc catatgaaat tgtagtggac cttacccata ccgggcctag 5101 caatcgcttt aaaacagact ttctctctaa gtggtttgtt gtttttcctg gctttgctta 5161 cgacaacgtc tccgcagtct atatctataa ctgtaactcc tgggtcaggg agtacaccaa 5221 gtatcatgag cggctgctga ctggcctcaa aggtagcaaa aggcttgttt tcatagactg 5281 tcctgggaaa ctggctgagc acatagagca tgaacaacag aaactacctg ctgccacctt 5341 ggctttagaa gaggacctga aggtattcca caatgctctc aagctagctc acaaagacac 5401 caaagtttct attaaagttg gttctactgc tgtccaagta acttcagcag agcgaacaaa 5461 agtcctaggg caatcagtct ttctaaatga catttattat gcttcggaaa ttgaagaaat 5521 ctgcctagta gatgagaacc agttcacctt aaccattgca aaccagggca cgccgctcac 5581 cttcatgcac caggagtgtg aagccattgt ccagtctatc attcatatcc ggacccgctg 5641 ggaactgtca cagcccgact ctatccccca acacaccaag attcggccaa aagatgtccc 5701 tgggacactg ctcaatatcg cattacttaa tttaggcagt tctgacccga gtttacggtc 5761 agctgcctat aatcttctgt gtgccttaac ttgtaccttt aatttaaaaa tcgagggcca 5821 gttactagag acatcaggtt tatgtatccc tgccaacaac accctcttta ttgtctctat 5881 tagtaagaca ctggcagcca atgagccaca cctcacgtta gaatttttgg aagagtgtat 5941 ttctggattt agcaaatcta gtattgaatt gaaacacctt tgtttggaat acatgactcc 6001 atggctgtca aatctagttc gtttttgcaa gcataatgat gatgccaaac gacaaagagt 6061 tactgctatt cttgacaagc tgataacaat gaccatcaat gaaaaacaga tgtacccatc 6121 tattcaagca aaaatatggg gaagccttgg gcagattaca gatctgcttg atgttgtact 6181 agacagtttc atcaaaacca gtgcaacagg tggcttggga tcaataaaag ctgaggtgat 6241 ggcagatact gctgtagctt tggcttctgg aaatgtgaaa ttggtttcaa gcaaggttat 6301 tggaaggatg tgcaaaataa ttgacaagac atgcttatct ccaactccta ctttagaaca 6361 acatcttatg tgggatgata ttgctatttt agcacgctac atgctgatgc tgtccttcaa 6421 caattccctt gatgtggcag ctcatcttcc ctacctcttc cacgttgtta ctttcttagt 6481 agccacaggt ccgctctccc ttagagcttc cacacatgga ctggtcatta atatcattca 6541 ctctctgtgt acttgttcac agcttcattt tagtgaagag accaagcaag ttttgagact 6601 cagtctgaca gagttctcat tacccaaatt ttacttgctg tttggcatta gcaaagtcaa 6661 gtcagctgct gtcattgcct tccgttccag ttaccgggac aggtcattct ctcctggctc 6721 ctatgagaga gagacttttg ctttgacatc cttggaaaca gtcacagaag ctttgttgga 6781 gatcatggag gcatgcatga gagatattcc aacgtgcaag tggctggacc agtggacaga 6841 actagctcaa agatttgcat tccaatataa tccatccctg caaccaagag ctcttgttgt 6901 ctttgggtgt attagcaaac gagtgtctca tgggcagata aagcagataa tccgtattct 6961 tagcaaggca cttgagagtt gcttaaaagg acctgacact tacaacagtc aagttctgat 7021 agaagctaca gtaatagcac taaccaaatt acagccactt cttaataagg actcgcctct 7081 gcacaaagcc ctcttttggg tagctgtggc tgtgctgcag cttgatgagg tcaacttgta 7141 ttcagcaggt accgcacttc ttgaacaaaa cctgcatact ttagatagtc tccgtatatt 7201 caatgacaag agtccagagg aagtatttat ggcaatccgg aatcctctgg agtggcactg 7261 caagcaaatg gatcattttg ttggactcaa tttcaactct aactttaact ttgcattggt 7321 tggacacctt ttaaaagggt acaggcatcc ttcacctgct attgttgcaa gaacagtcag 7381 aattttacat acactactaa ctctggttaa caaacacaga aattgtgaca aatttgaagt 7441 gaatacacag agcgtggcct acttagcagc tttacttaca gtgtctgaag aagttcgaag 7501 tcgctgcagc ctaaaacata gaaagtcact tcttcttact gatatttcaa tggaaaatgt 7561 tcctatggat acatatccca ttcatcatgg tgacccttcc tataggacac taaaggagac 7621 tcagccatgg tcctctccca aaggttctga aggatacctt gcagccacct atccaactgt 7681 cggccagacc agtccccgag ccaggaaatc catgagcctg gacatggggc aaccttctca 7741 ggccaacact aagaagttgc ttggaacaag gaaaagtttt gatcacttga tatcagacac 7801 aaaggctcct aaaaggcaag aaatggaatc agggatcaca acacccccca aaatgaggag 7861 agtagcagaa actgattatg aaatggaaac tcagaggatt tcctcatcac aacagcaccc 7921 acatttacgt aaagtttcag tgtctgaatc aaatgttctc ttggatgaag aagtacttac 7981 tgatccgaag atccaggcgc tgcttcttac tgttctagct acactggtaa aatataccac 8041 agatgagttt gatcaacgaa ttctttatga atacttagca gaggccagtg ttgtgtttcc 8101 caaagtcttt cctgttgtgc ataatttgtt ggactctaag atcaacaccc tgttatcatt 8161 gtgccaagat ccaaatttgt taaatccaat ccatggaatt gtgcagagtg tggtgtacca 8221 tgaagaatcc ccaccacaat accaaacatc ttacctgcaa agttttggtt ttaatggctt 8281 gtggcggttt gcaggaccgt tttcaaagca aacacaaatt ccagactatg ctgagcttat 8341 tgttaagttt cttgatgcct tgattgacac gtacctgcct ggaattgatg aagaaaccag 8401 tgaagaatcc ctcctgactc ccacatctcc ttaccctcct gcactgcaga gccagcttag 8461 tatcactgcc aaccttaacc tttctaattc catgacctca cttgcaactt cccagcattc 8521 cccaggaatc gacaaggaga acgttgaact ctcccctacc actggccact gtaacagtgg 8581 acgaactcgc cacggatccg caagccaagt gcagaagcaa agaagcgctg gcagtttcaa 8641 acgtaatagc attaagaaga tcgtgtgaag cttgcttgct ttctttttta aaatcaactt 8701 aacatgggct cttcactagt gaccccttcc ctgtccttgc cctttccccc catgttgtaa 8761 tgctgcactt cctgttttat aatgaaccca tccggtttgc catgttgcca gatgatcaac 8821 tcttcgaagc cttgcctaaa tttaatgctg ccttttcttt aacttttttt cttctacttt 8881 tggcgtgtat ctggtatatg taagtgttca gaacaactgc aaagaaagtg ggaggtcagg 8941 aaacttttaa ctgagaaat //
the above report in Macintosh PC UNIX Text HTML MIME format
