LOCUS AB053309 3438 bp mRNA linear HUM 05-OCT-2001 DEFINITION Homo sapiens ALS2CR8 mRNA, complete cds, long form. ACCESSION AB053309 VERSION AB053309.1 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 3438) 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..3438 /chromosome="2" /clone="CALS139L" /db_xref="H-InvDB:HIT000059679" /db_xref="taxon:9606" /map="2q33" /mol_type="mRNA" /note="alternative splicing variant, long form, see also AB053310" /note="clone:IMAGE:1376470:369-3438nt" /note="clone:IMAGE:3078066:1-1073nt" /note="composite sequence:1-3438nt" /organism="Homo sapiens" CDS 698..2854 /codon_start=1 /gene="ALS2CR8" /note="long form" /protein_id="BAB69018.1" /transl_table=1 /translation="MEQSNDSLRVNHNDGEESKTSAQVFEHLICMDSRDSSFGQNDSP TVLPITTREANNSLISQNIPGPLTQTQTLSAEQFHLVDQNGQAIQYELQSLGESNAQM MIVASPTENGQVLRVIPPTQTGMAQVIIPQGQLVDVNSPRDVPEEKPSNRNLPTVRVD TLADNTSNYILHPQTSFPLPKKSVTGMLEEPLLGPLQPLSSNTPIWACRLRSCEKIGD SYRGYCVSETELESVLTFHKQQTQSVWGTRQSPSPAKPATRLMWKSQYVPYDGIPFVN AGSRAVVMECQYGPRRKGFQLKKVSEQESRSCQLYKATCPARIYIKKVQKFPEYRVPT DPKIDKKIIRMEQEKAFNMLKKNLVDAGGVLRWYVQLPTQQAHQYHELETPCLTLSPS PFPVSSLEEEETAVRDENCALPSRLHPQVAHKIQELVSQGIEQVYAVRKQLRKFVERE LFKPDEVPERHNLSFFPTVNDIKNHIHEVQKSLRNGDTVYNSEIIPATLQWTTDSGNI LKETMTVTFAEGNSPGESITTKVETNQTRGSLSPEPTHLLSSLSSFQPKIFTQLQGLQ LQPRYTSPDESPAVVSVNNQPSSSPSGLLDTIGSAVMNNNSLLLGQSHSLQRDTCLTQ NNSTASTMGNLPEPDQNLVAMDELVEVGDVEDTGNLEGTVHRILLGDVQTIPIQIIDN HSALIEENPESTISVSQVKQEPKEPALSMEAKNCGL" BASE COUNT 1090 a 688 c 691 g 969 t ORIGIN 1 gccgcggaga aggagccgga ccccttgggc ggagcgccca atgtgtggtc cctcacgccg 61 tcccgcacct tgctttttag ggttcttttt ccgctttctg agccctttta taccttacgt 121 ttagaagggg aaaatcatcc tcccacacct tctccccgac tttttgcctt ttttgtcttg 181 aagttaccca aaggcctgtg tattgttctc aatggtccca agaattactc taatatagtt 241 gtttttctga gggaggatgg atggagataa ctatcctgat cccaatgtca ctttttaagg 301 cattcgcttc aagagacaag cagtttagaa tcaggcagaa ctggattgca aaatttatgg 361 gcagaccgag aaaatgctgc tgtgaagacc caattaaagc tttcacataa atgaagctac 421 agctatcatg atttagtgcc cccaaaagga agaacttcag tggacaagaa aggacatttc 481 tgggggtagt agaatgcttg aggcctggaa tttaaacctg agccactatc tgaaggttta 541 atatatcttt gccaagtcca agggtacaaa gattttctcc tgtgttttct tctagaagtt 601 ttatcatttg atagtctgtg atccatttca agttgatttg ctatctggtg tgagctatta 661 aataatagaa gaaaatggaa ttgaatatga tgtcagcatg gaacaatcta atgattcatt 721 aagagtcaac cataatgacg gtgaagagtc aaaaaccagt gctcaagtat ttgagcatct 781 aatctgtatg gactccaggg attcttcctt tggacaaaat gattctccta cagttttgcc 841 catcactact cgtgaagcaa ataattcact catatcacag aatataccag ggcccctgac 901 tcagacacag actctttctg cagagcaatt ccatctagtg gaccaaaatg ggcaggctat 961 tcaatatgaa cttcagtcat tgggggaatc caatgcacaa atgatgatcg ttgccagccc 1021 aacagaaaat ggacaggtac ttcgtgtaat tccacctacc cagacaggaa tggcacaagt 1081 gattatacct caggggcaac ttgtggatgt gaatagtcct cgggatgtcc ctgaagagaa 1141 acccagtaac agaaacttac caactgtaag agtggatact ctagcagaca ataccagcaa 1201 ttacattctt catcctcaaa catccttccc attgcccaaa aagtcagtga ccggaatgct 1261 ggaagaaccc cttctggggc ctcttcagcc actttcttct aatacaccta tatgggcctg 1321 ccgtcttagg agctgtgaga aaattggaga ttcataccgt ggctactgtg taagtgagac 1381 tgaattagaa agtgtcctaa catttcacaa gcagcaaaca cagagtgttt gggggacccg 1441 tcagtctcca agcccagcca agcctgctac acgcttgatg tggaaatccc agtatgttcc 1501 atatgatgga atcccatttg ttaatgcagg gagtagagct gtggtaatgg agtgtcagta 1561 tgggccaaga agaaaaggtt tccagttaaa aaaagtcagt gagcaggaaa gcaggtcttg 1621 tcagctctac aaagccactt gtccagctcg gatttacatt aaaaaggtac agaagtttcc 1681 tgaatataga gttcctacag accccaaaat tgacaagaaa attatcagaa tggagcagga 1741 gaaagctttt aacatgctaa agaagaactt ggtagatgct ggtggtgttc ttaggtggta 1801 tgtacagtta cctacacagc aagctcatca gtatcatgaa ttagagactc cctgcctcac 1861 tttgtcacct tctccttttc ctgtgtcttc tcttgaagaa gaggaaactg cagttagaga 1921 tgagaattgt gcattaccct cacgtttaca tcctcaagta gcacataaga ttcaagaatt 1981 agtatcacag ggaatagaac aagtgtatgc agtaaggaaa cagctaagaa aatttgtgga 2041 aagggaactg ttcaaacccg atgaggtacc tgaaagacat aatttatctt tttttccaac 2101 tgtaaatgat ataaaaaatc acatccatga ggtacagaaa tccttgagaa atggagatac 2161 ggtatataac tcagagatta ttccagcaac gcttcaatgg actacagaca gtgggaatat 2221 tctcaaagag accatgacag ttacatttgc agaaggaaat tcaccaggag aatcaattac 2281 caccaaagtg gaaacaaatc agaccagggg ttctttgtct cctgagccaa cccacttgct 2341 ctcctcactc tcctcatttc agcccaaaat atttacacaa ctacagggtt tgcagttaca 2401 accaaggtac acctctcctg atgaatcacc agctgtggta tcagtaaata accagccgtc 2461 ctctagtcct tcaggacttc tggatacaat aggaagtgct gtaatgaata ataattctct 2521 actgcttggt caaagtcata gccttcaaag agatacatgc ttaacccaaa acaatagtac 2581 tgcctccacc atgggtaacc ttccagaacc agatcaaaat ctagttgcaa tggacgagct 2641 ggtagaagtt ggagatgttg aggatacagg gaatctggaa ggaactgttc atcggattct 2701 gttgggagat gtgcagacta ttccaataca gattatagac aaccactcag ctcttattga 2761 agaaaatcca gaaagtacca tttctgtgag ccaagttaaa caagaaccca aagaaccagc 2821 attgtctatg gaagcaaaaa actgtggact ataagaaatt atctgctaca taaattattg 2881 aagcttttca gaatttacaa ctctggtgac ttctgatgtc ttagaaagga aggtgaatat 2941 agtcaaagcg tggcattgag ataattggac tgaagaccag tttgatgaga agcttttatt 3001 taaaactgat atatttgttg ccagttccat atttttacct tccttaagag atgttttact 3061 cttcttattt tgtataattt ttatgctctt tgattatcta ataaggccag tatttcaaaa 3121 gctgttctga atttatccac agtaatatag tctgaacaca aatagtttac ttaacttatc 3181 cttggaaata ttcaattttg gttattacaa aacagaaaag aacaacagca acaaaaacat 3241 tgtgtgaata tatgtttgta tgtgtgtatg tatatcatga attttttttt taagttctga 3301 aaaagaactt gttctctcct taaagttgtg aagaaattgt taattgccag acaggtaaga 3361 aaatgtttat aatctatctc attaagaaag atgaagtatt agattttaca tcataacaca 3421 aagtccagca gctacatc //