LOCUS       AB053305                6394 bp    mRNA    linear   HUM 05-OCT-2001
DEFINITION  Homo sapiens ALS2 mRNA, complete cds, long form.
ACCESSION   AB053305
VERSION     AB053305.1
KEYWORDS    .
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 6394)
  AUTHORS   Hadano,S. and Ikeda,J.
  TITLE     Direct Submission
  JOURNAL   Submitted (08-JAN-2001) to the DDBJ/EMBL/GenBank databases.
            Contact:Shinji Hadano
            Tokai University, The Institute of Medical Sciences; Bohseidai,
            Isehara, Kanagawa 259-1193, Japan
REFERENCE   2
  AUTHORS   Hadano,S., Hand,C.K., Osuga,H., Yanagisawa,Y., Otomo,A.,
            Devon,R.S., Miyamoto,N., Showguchi-Miyata,J., Okada,Y.,
            Singaraja,R., Figlewicz,D.A., Kwiatkowski,T., Hosler,B.A.,
            Sagie,T., Skaug,J., Nasir,J., Brown,R.H.,Jr., Scherer,S.W.,
            Rouleau,G.A., Hayden,M.R. and Ikeda,J.-E.
  TITLE     A gene encoding a novel GTPase regulator is mutated in familial
            amyotrophic lateral sclerosis 2
  JOURNAL   Nat. Genet. 29, 166-173 (2001)
COMMENT     
FEATURES             Location/Qualifiers
     source          1..6394
                     /chromosome="2"
                     /clone="CALS370L"
                     /db_xref="H-InvDB:HIT000059676"
                     /db_xref="taxon:9606"
                     /map="2q33"
                     /mol_type="mRNA"
                     /note="alternative splicing variant, long form, see also
                     AB053306"
                     /note="clone:H1:1-1217nt"
                     /note="clone:H2:1047-2156nt"
                     /note="clone:H3:1912-3231nt"
                     /note="clone:H4:3019-4216nt"
                     /note="clone:IMAGE:269257:4079-6394nt"
                     /note="composite sequence: 1-6394nt"
                     /organism="Homo sapiens"
                     /tissue_type="brain"
     CDS             124..5097
                     /codon_start=1
                     /gene="ALS2"
                     /note="long form"
                     /protein_id="BAB69014.1"
                     /transl_table=1
                     /translation="MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVL
                     QAALGVKHGVLLTEDGEVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFH
                     SGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEE
                     HTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQ
                     CLPSQDLKPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTAL
                     SPSTETLDRQEEVFENTLVANDQSVATELNAVSAQITSSDAMSSQQNVMGTTEISSAR
                     NIPSYPDTQAVNEYLRKLSDHSVREDSEHGEKPMPSQPLLEEAIPNLHSPPTTSTSAL
                     NSLVVSCASAVGVRVAATYEAGALSLKKVMNFYSTTPCETGAQAGSSAIGPEGLKDSR
                     EEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQVSPRLLRKAARVKTRTVV
                     LTPTYSGEADALLPSLRTEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKEVIHLEA
                     GGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTVPRLAKISSENGVWSIAAGRDYSLF
                     LVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTAGKDSYLA
                     LVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVAS
                     RFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLDSYTEYCTSITNFLVMGGF
                     QLLAKPAIDFLNKNQELLQDLSEVNDENTQLMEILNTLFFLPIRRLHNYAKVLLKLAT
                     CFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFPGKMTDSLRKPERRL
                     LCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLWAEPLSEEAGGVN
                     GLKITTPEEQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSGSSVQRQEPPI
                     SRSAKYTFYKDPRLKDATYDGRWLSGKPHGRGVLKWPDGKMYSGMFRNGLEDGYGEYR
                     IPNKAMNKEDHYVGHWKEGKMCGQGVYSYASGEVFEGCFQDNMRHGHGLLRSGKLTSS
                     SPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVVVTQFGLYYEGNFHL
                     NKMMGNGVLLSEDDTIYEGEFSDDWTLSGKGTLTMPNGDYIEGYFSGEWGSGIKITGT
                     YFKPSLYESDKDRPKVFRKLGNLAVPADEKWKAVFDECWRQLGCEGPGQGEVWKAWDN
                     IAVALTTSRRQHRDSPEILSRSQTQTLESLEFIPQHVGAFSVEKYDDIRKYLIKACDT
                     PLHPLGRLVETLVAVYRMTYVGVGANRRLLQEAVKEIKSYLKRIFQLVRFLFPELPEE
                     GSTIPLSAPLPTERKSFCTGKSDSRSESPEPGYVVTSSGLLLPVLLPRLYPPLFMLYA
                     LDNDREEDIYWECVLRLNKQPDIALLGFLGVQRKFWPATLSILGESKKVLPTTKDACF
                     ASAVECLQQISTTFTPSDKLKVIQQTFEEISQSVLASLHEDFLWSMDDLFPVFLYVVL
                     RARIRNLGSEVHLIEDLMDPYLQHGEQGIMFTTLKACYYQIQREKLN"
     misc_feature    1034..6394
                     /note="matched with KIAA1563(AB046783)"
     regulatory      6375..6380
                     /regulatory_class="polyA_signal_sequence"
BASE COUNT         1779 a         1326 c         1591 g         1698 t
ORIGIN      
        1 ggacccactg ggttgccaag ctcgcgccgg atgcggagcg cggtgctgcc ggtggagctt
       61 caggtcttga tagactttct gtaaagaagg aatgatttgg tgatggagtg ttcccactga
      121 ccgatggact caaagaagag aagctcaaca gaggcagaag gatccaagga aagaggcctg
      181 gtccatatct ggcaggcagg atcctttccc ataacaccag agagattgcc aggctgggga
      241 ggaaagactg ttttgcaggc agccctcgga gtgaaacatg gagttcttct gactgaagat
      301 ggtgaggtct acagctttgg gactcttccc tggagaagtg gaccagtgga gatttgtcca
      361 agtagcccca ttctagaaaa tgccctggtt gggcaatatg ttattactgt ggcaacagga
      421 agcttccata gtggagcagt gacagacaat ggtgtcgcgt acatgtgggg agagaattct
      481 gctggccagt gtgcagtagc caaccagcag tatgtgccgg aaccaaatcc tgtcagcatt
      541 gctgattctg aggccagccc tttgttagca gtcaggattt tacagttggc gtgtggcgag
      601 gagcacactc tggcattgtc aataagcaga gagatttggg catggggtac cggttgtcag
      661 ttgggtctca ttaccactgc cttcccagtg acaaagccgc aaaaggtaga acatcttgct
      721 gggcgagtgg tgcttcaagt tgcctgtggt gctttccaca gcttagccct tgtacaatgc
      781 ctcccttccc aggatctgaa gccagtccca gaacgatgca accagtgcag ccagctcttg
      841 attactatga ctgacaaaga agaccatgtg attatatcag acagtcattg ttgcccatta
      901 ggtgtgacac tgacagaatc tcaggcagaa aaccatgcca gcactgctct cagcccctcc
      961 actgaaaccc ttgacaggca ggaagaagta tttgagaaca ctcttgtagc aaatgatcag
     1021 tctgttgcta ctgaactgaa tgcagtaagt gctcagatca caagcagcga tgccatgtcc
     1081 tctcaacaaa atgtcatggg aacaactgaa atttcctctg ccagaaacat accatcatac
     1141 cctgacaccc aagcagtcaa tgaataccta cggaaactgt cagatcattc agtaagagag
     1201 gactcagagc atggtgaaaa gccaatgcca tctcagcctc ttttagaaga agcaattcct
     1261 aatctccaca gcccgcctac cacaagcacc tcagccctaa acagcctggt ggtctcttgt
     1321 gcatctgctg ttggtgtgag agtggctgct acttatgaag ctggtgcctt gtcactgaag
     1381 aaagttatga acttttatag tacaacccct tgtgaaactg gagctcaggc aggcagtagt
     1441 gccattggcc ccgaaggttt gaaagatagc agggaagaac aggttaaaca ggaatcaatg
     1501 caaggaaaga aaagttcaag tcttgtggat atcagagaag aagaaacaga gggaggcagt
     1561 cgaagactct ccctccctgg attgttgtca caagtttccc ccaggctctt aagaaaggct
     1621 gcacgggtga aaacgaggac agtggttctg acccccacat acagtggaga agcagatgcg
     1681 ctcctgcctt ctctgagaac agaagtgtgg acctggggga aagggaagga agggcagctg
     1741 gggcacggcg atgttctgcc taggcttcaa ccgttgtgtg taaaatgtct ggatggcaaa
     1801 gaagtaatcc atctggaggc aggtggttac cattctcttg cacttactgc gaaatcccag
     1861 gtttactcat ggggtagcaa tacctttggt caacttgggc attccgattt tccaacaaca
     1921 gttcctcgtc ttgcaaagat aagcagtgaa aatggagtct ggagcatagc tgcaggcagg
     1981 gattattccc tgtttttagt ggatacagaa gacttccagc ctgggttata ttacagtggc
     2041 cgacaggacc ctacagaagg tgacaacctt ccagagaatc acagtggttc taagactcca
     2101 gtacttctct cctgtagtaa gcttggatat ataagcagag tgacagcagg aaaagatagc
     2161 tatttagcct tggtggataa aaacattatg gggtatattg ccagtctcca cgagttagct
     2221 actacagaaa gacgattcta ttcaaaacta agtgatatca aatctcagat tctcaggcct
     2281 cttctcagtt tagaaaattt gggcactaca actacagtcc agctgttgca ggaggtggct
     2341 agccgattca gcaagctgtg ttacctcatt ggtcagcatg gagcctcatt gagcagcttc
     2401 cttcatgggg taaaggaagc caggagtttg gtcatcctga agcattcaag tctcttcttg
     2461 gatagttata cagagtattg cacatctatt acaaatttcc tggttatggg aggattccag
     2521 cttcttgcta agcctgccat tgatttccta aataaaaacc aagagctgtt gcaagatttg
     2581 tcagaagtga atgacgaaaa cactcagttg atggaaatac tgaatacttt gtttttcttg
     2641 ccaatcagac gacttcataa ttacgcaaaa gttttgctaa agcttgctac ttgttttgaa
     2701 gtggcatctc cagaatatca gaaactgcag gattccagtt cttgttatga gtgtcttgct
     2761 ctccatctcg gcaggaaaag gaaggaagca gaatacacac tgggcttctg gaagaccttc
     2821 cccggaaaaa tgacggattc cttgaggaag ccagagcgtc gactgctgtg tgagagtagt
     2881 aaccgagccc tgtctctgca gcatgctggg aggttttccg tgaattggtt cattctcttt
     2941 aatgatgccc tggtccatgc ccagttctcc acgcaccatg ttttccctct ggccacgctg
     3001 tgggcagagc cactgtctga agaagctggt ggtgtgaatg gcttaaagat aactacacct
     3061 gaggagcagt tcactctcat ttcatctaca ccccaggaaa agacaaagtg gctacgagct
     3121 ataagccaag ccgtagatca ggctttgaga gggatgtctg atctcccccc ttatggaagt
     3181 ggtagcagtg ttcagagaca ggaaccaccc atttcacgca gtgccaaata tactttctac
     3241 aaggatcctc gcctaaagga tgccacctat gatggacgct ggctttcagg gaagcctcat
     3301 ggcagagggg ttttgaagtg gcctgatgga aagatgtatt ctggcatgtt caggaatggc
     3361 ttggaagatg ggtatggaga atacagaatc ccaaacaagg caatgaacaa agaagaccat
     3421 tatgtgggcc attggaaaga aggaaaaatg tgcggtcaag gagtctacag ctatgcttct
     3481 ggtgaagtat ttgagggctg ttttcaagat aatatgcgtc atggtcatgg tcttctacga
     3541 agtgggaaat tgacgtcctc ttctcctagt atgttcattg gccagtgggt aatggataag
     3601 aaagcaggat atggtgtctt tgatgatatc actagggggg aaaagtatat gggaatgtgg
     3661 caagatgatg tgtgtcaagg gaatggtgtg gtggttaccc agtttggatt atactacgag
     3721 ggcaactttc accttaataa aatgatggga aatggggttt tgctttccga agatgatact
     3781 atctatgaag gagaattttc agatgactgg actcttagtg gaaagggaac actgactatg
     3841 ccaaatggag actacattga aggttatttt agtggagaat ggggatctgg gataaaaatc
     3901 actggaacct acttcaaacc tagtctatat gagagtgata aagacagacc taaagttttc
     3961 aggaagctag gaaacctggc agtgccagct gatgagaagt ggaaagcggt gtttgacgaa
     4021 tgttggcgcc aactgggctg tgagggccca ggccaagggg aagtttggaa agcatgggac
     4081 aatattgctg tggccttgac caccagtcgg cgccagcaca gagacagtcc agaaatattg
     4141 agtcgttcac agactcagac actagagagt ttggaattca ttccacagca tgttggtgcc
     4201 ttctctgtgg agaaatatga tgacatcagg aaatatttaa taaaggcctg tgacactcct
     4261 ctgcaccccc tgggcaggct tgtggagaca ctggttgcag tgtatagaat gacatacgtg
     4321 ggcgtaggag ccaaccgcag gttattgcag gaggctgtaa aggagattaa gtcctatctt
     4381 aagcgaattt tccagctggt gaggttctta tttcctgagc tgcctgaaga aggcagcaca
     4441 attcctctct ctgctcctct gccaaccgaa aggaagtctt tttgcactgg gaagtcagat
     4501 tcccgatctg aatcaccaga gccaggttat gtagtaacga gttctggatt attgcttcct
     4561 gtgctgctac ctcggctcta cccaccgctg tttatgcttt atgctttgga taatgatcgc
     4621 gaggaagaca tttactggga atgtgtcctt cgactaaata agcagccaga tattgctctc
     4681 ctgggctttc ttggggtgca gaggaaattt tggccagcaa ccttgtcaat ccttggagag
     4741 agtaaaaagg ttttgccaac cacgaaagat gcttgttttg cctcagcagt agaatgtctg
     4801 cagcagatca gcacaacatt taccccatca gacaaactta aggtcatcca gcagactttt
     4861 gaggagatct ctcagagtgt cctggcgtca ctccacgaag acttcttgtg gtccatggat
     4921 gacttgtttc ctgttttctt atatgtggtg ctacgggcca ggattaggaa tttaggctct
     4981 gaggtacacc tcattgagga tctaatggac ccctatcttc agcatgggga acagggtata
     5041 atgttcacca ccttgaaggc atgttactac cagattcagc gtgagaagct taactaggct
     5101 gcataacagc ttgaaaactg gattatctac tacagagtgt tataacacca tctggagtct
     5161 tcctgtagtg gcaaaaaaga acagtgttga aattggaaag gactttgtgt tatttaggtt
     5221 gttagaatga gccttaccaa taataagagc cctgagccca gaaaaaagga ctgtatagtt
     5281 taaagggagg attgaaaggg aggtaaaaaa tcagattaga ccagttcttg gcctatgata
     5341 agttccaaaa ataccattta tctactattt gaaaaaagaa gaggatatcc cttcctacag
     5401 taaagggtat gtcagctaca tgaagttgta agaaaagctt ccagtagagc ttcttatatt
     5461 aaagaagttg atggatattt ttgaatttct ggtttgcctg aatccacctg cagttacccc
     5521 gatccgtttg caagaaccag atcgtacttg aaactatagt ggccacactc tgccttcctg
     5581 agtcccttcc agtcatgtgt gcatcatgtc tctttgccaa gggaggggag aaaggaactt
     5641 ttaaactgca gttttaactt tttctaagct gtttcttgat gggagaggtt ctgtgcaaaa
     5701 ctaccacatt ctgtccccaa aatgtggaat gcatccaaat aggagtcttc tgcctcttaa
     5761 cttaaaagaa cataggaatt ttgtttttgg tttctttatc atgctacaga gagtgaatac
     5821 actggaattc agacaccgac tctgagctgc taggaacctc atttgtccat gtgcaaacgc
     5881 tgtattccaa ggcctgtgaa tggcagcctg aggaagtttt gcatgcaggc tgtgttttcg
     5941 agcaggacta acaactggga aataagcaaa aaactgcatc gatccccagc ctggtgttgt
     6001 tcttccctat acttcacact gaactcagga tgggaagaaa aaggaaacaa gctttggctt
     6061 tttccatctc aaaagtattg tggcacctca acatttcagt gttttgcttt ttaaaaaatg
     6121 ccctattgta agttgttggt ttatactgta taagtaacac tagtagctgt tttgaataac
     6181 ataggtgctc ttcctcatct catctcctac accgtggtga gcatacagag tgtcctgatt
     6241 tgtgttaagt gactgagaag atgttaatta cttttgaaaa aggatcatgg tttttgctct
     6301 actttataat caagacaagt gtttattaaa atactgtttt ggaatgttgg ctgtaatgta
     6361 acagcaattt tcataataaa aggcattcat cttt
//