LOCUS AF123761 4824 bp mRNA linear HUM 25-NOV-1999 DEFINITION Homo sapiens putative transmembrane protein (CLN8) mRNA, complete cds. ACCESSION AF123761 VERSION AF123761.1 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 4824) AUTHORS Ranta,S., Zhang,Y., Ross,B., Lonka,L., Takkunen,E., Messer,A., Sharp,J., Wheeler,R., Kusumi,K., Mole,S., Liu,W., Soares,M.B., Bonaldo,M.F., Hirvasniemi,A., de la Chapelle,A., Gilliam,T.C. and Lehesjoki,A.E. TITLE The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 JOURNAL Nat. Genet. 23 (2), 233-236 (1999) PUBMED 10508524 REFERENCE 2 (bases 1 to 4824) AUTHORS Ranta,S., Zhang,Y., Ross,B., Lonka,L., Takkunen,E., Soares,B.M., Hirvasniemi,A., de la Chapelle,A., Gilliam,T.C. and Lehesjoki,A.-E. TITLE Direct Submission JOURNAL Submitted (27-JAN-1999) Medical Genetics, University of Helsinki, PO Box 21 (Haartmaninkatu 3), University of Helsinki 00280, Finland FEATURES Location/Qualifiers source 1..4824 /db_xref="H-InvDB:HIT000070406" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8p23" gene 1..4824 /gene="CLN8" CDS 235..1095 /gene="CLN8" /codon_start=1 /product="putative transmembrane protein" /protein_id="AAF13119.1" /translation="MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQ LSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAAGLWALLGDPVLHADKARGQQNW CWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQVGHYLA MTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYHMWWVCFWH WDGLVSNLYLPHLTLFLVGLALLTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEG NGQLLRKKRP" BASE COUNT 1086 a 1129 c 1302 g 1295 t ORIGIN 1 gtttgaggcc ggccagtcgt gactgggcgg caatgaggtc agtgactgcc gggagtcctg 61 caggggcggg gcggcgccaa gcgcagggag cccggctgag tggcagccya gattgaagat 121 ggatacgtga caatcccagg gaccgctgca ctgacttcat ttccttagac aagacacagt 181 gtagggcccg gcccgygttg gccccaggac tcctttggaa tatagctgtg gacaatgaat 241 cctgcgagcg atgggggcac atcagagagc atttttgacc tggactatgc atcctggggg 301 atccgctcca cgctgatggt cgcyggcttt gtcttctact tgggcgtctt tgtggtctgc 361 caccagctgt cctcttccct gaatgccact taccgttctt tggtggccag agagaaggtc 421 ttctgggacc tggcggccac gcgtgcagtc tttggtgttc agagcacagc cgcaggcctg 481 tgggctctgc tgggggaccc tgtgctgcat gccgacaagg cgcgtggcca gcagaactgg 541 tgctggtttc acatcacgac agcaacggga ttcttttgct ttgaaaatgt tgcagtccac 601 ctgtccaact tgatcttccg gacatttgac ttgtttctgg ttatccacca tctctttgcc 661 tttcttgggt ttcttggctg cttggtcaat ctccaagttg gccactatct agctatgacc 721 acgttgctcc tggagatgag tacgcccttt acctgcgttt cctggatgct cttaaaggcg 781 ggctggtccg agtctctgtt ttggaagctc aaccagtggc tgatgattca catgtttcac 841 tgccgcatgg ttctaaccta ccacatgtgg tgggtgtgtt tctggcactg ggacggcctg 901 gtcagcaacc tgtatctgcc tcatttgaca ctgttccttg tcggactggc tctgcttacg 961 ctaatcatta atccatattg gacccataag aagactcagc agcttctcaa tccggtggac 1021 tggaacttcg cacagccaga agccaagagc aggccagaag gcaacgggca gctgctgcgg 1081 aagaagaggc catagctgct ccagccgggg ctccggggcg gcagcagagc tggcacaccg 1141 attctgggaa gccccgcgaa tgatggcttt tgaattaatg aggcagtgaa tgttttgtgt 1201 ttacttctaa gggaaatact aactttcttt cgcattagta ttaattttga agtagctaca 1261 aagtattttt aagaaattat aattttatga ctgtctggca ggctctgtca gtttagccgc 1321 gccggaccgt gtcaagcatc taggagagga gtccatggtg tccaggcatc ggggcgtcac 1381 acctgttgag gagtggggtg gctttgaatg ctggaaatgg cttcatagtg aagtgcctcc 1441 cacagggcgg gtgggtcagc gttgactctt tccarctgca cactcatatg ccgtgtgtct 1501 tattcagaag tcacattctt ttcagttgga gagaattggg ctaagataga aaataacatg 1561 atttgttcct tattaaagtt tcccagcgta tgaaattcta agctgggtgg ggtggctcac 1621 gcccgacgta atcccagcac gttgggaggc cgaggcaggt ggatcacttg aggccaggag 1681 ttcgagacca gcctggtcaa gatggtgaaa ccccatctct actaaaatta caaaaattag 1741 ccgggtgtcg tggcacacac ctgtaatccc agctatttgg gaggccaagg caggagaatt 1801 gcctgaaccc gggaggcgga ggttgcagtg agctgagatc gcaccactgc actccagcac 1861 tccagcctgg gtgacagagc aagactctct ctcataaaaa aaaaaaaaaa aaaaattcta 1921 gaccgaagtg tacggcagtg ccatctggtg gcaagtggta caaagacaac gctgaggggt 1981 agtgactcct gtagcagcag agacgccttg gagtttaacc cccaccaacc agagcgtggg 2041 ctggtaaaga tgaaatcttg caagtttttt ttttttttaa atcatggtac ctgttttaaa 2101 atgagaagtt attattcata ctgtgttgct catttgacaa aataaggtaa ggatttcata 2161 atcaggttgt ctgggtttca gagctgtttt taattgactg agttacctac aggcacccaa 2221 tctagaccct aattctgtgg ttggtgttcc tctgtagatt tcaagacaag tagtgatgtc 2281 attttctccc tgagctgtag ggtggacctg gacccctcag agatgctcga ctgcagggtc 2341 ctggggtccc tagagtggtc ctgcagcagc ccctggcaat gagctgcctg atgatgagtc 2401 ccaaggtaca ttgttctact gttttatacc caggtagaag ttacacagca atttagcaat 2461 gttgttaaca gacatacaga attgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgagtg 2521 ttttgatata aacgtgcaat taaaattcaa agtttatttt ttatcacaag cacctttgaa 2581 atgtacgtgg aaaacgtcgg ctgctcgtga gaatcatgtg tgacttacgt tccttatgtt 2641 ttatggaact ctcggaacag tgttttgttt ttgtttagtt tttgttttcg tttttttgrg 2701 acggagcctg gctttggctc ccaggctgga gtccagtggt gtgatctcgg ctcactgcaa 2761 cctccacctc ccgggttcca gggattctcc tgcctcaccc tttcaagtag ctgggattrc 2821 aggtacctct accatgcctg gctgattttt tgtattttta gtagagacag ggtttcacca 2881 tgttggccag gctggtctct gactcctgac taaaagtgat ctgcccacct cggcctccca 2941 aagttctggg attacgggcg tgagccactt cacccggccc ggagcggtgt attttgattg 3001 ctggtgcttt aactatattg accaaggtgt atagtaacct atttatcaca ttttacgaag 3061 caattttaat cttaaacaca tccagcaaat ggtgtccctg ctgaaacttt taactggaaa 3121 cctcacacct ggcaggcagc actctctgca gccgtgccct tgtggagtca gcaggagctg 3181 gtgtttttca gccagacaga ggcataataa agtgactgat gtttacrgaa cccaaatgat 3241 gtcttcctct ctctcaaaat aaactaacct attcatattg ctgtgaatgc tttatcttgg 3301 agatagaaaa tataatgata aattcatcat gtgttcagaa ttcgatttgg agttggaagt 3361 ggacagccta atttttatct cacctccact aggactttga ccttcccagg ggtccacact 3421 ttacctcctg tatcttcata cgcgtgtgtg gatgcataga gatggaggtg ctgtagagaa 3481 gcacaggctc acccgctccg tccagtgtca cccacacatt ggtccgggga cccctcagtg 3541 cagagcctga agttgggggt ttaggggtgg aaaaggcttc gtgaaatgtt aatgatgcgt 3601 acaccttcca gatggcacag cactttccca tggtcctcrc tggcctcagt ctccctgacc 3661 ggcagtgtga ggggatgtag ctatagtgga gcatggtaca agcgacattc atgagctctg 3721 acttcttggt gccaggttgg tgtgagcctg ggcccggccc actcagcggc ccacattggc 3781 cagcattcag ctgcacgtgt gtgctgcgtg cttcacatcc tctattgaga gttacagcaa 3841 gtgttaaacg aggtgagtty acataacagg aattctggaa ctgcttgaaa actaggacga 3901 ttgggcaata tcggccttaa ctccacctga tggcaggtga cccggataga aaatggccct 3961 gcgtttagcc aggatgtggc tctccagctt ggcttcagtg tgatcacttg tcagtgcgct 4021 ttctctttcg atagtgaaat ccttctctat acctatgttt tgttttgttg ctcgacgttg 4081 ggaaacagaa tgggccaggg aggttgagtg actgaagacc aagggttggt gcagcctcct 4141 cgccgcgctg cggggkctgg gccgcacagg cttctgccct tctcggtgtc caggctcctt 4201 gggtgatgct ggagttgtca tggcygcagt tcagtgtgag attttttacc aggtattgcg 4261 cttaagggac atgattttcc attttcttcg cccggacaac ttgaatgaaa tgggcactgt 4321 tgattccact tctgtcgagg agcttcgggg ctcagagagg tgatgacgtg cccaaggtga 4381 cgcaactcgt gaacagccgt gcctgccttg ggcgcagctc cggcgccaga gctgggctct 4441 tcaacacggc atttagcgca gaaagtcgtg gttcaggcag tatgggccgc tgtgacaaaa 4501 cacctaagac tgggtagttt ataaagaaca gacattcagg ccaggcacgg tgactcacgc 4561 ctgtaatccc agcactttgg gaggccgagg cgcgtggatc atttgaggtc aggagtttga 4621 aaccagcctg gccaacatgg tgaaacccca tctctactaa aaaaacaaaa ctagctgggg 4681 gtggtggtgt atgcctgtgg tcccagctac ttgggaggct aaggtagaag aattgcttga 4741 acctgggagg cagagattgc agtgagccga gatcacgcca ttgcactcca gcctgggtga 4801 cacagtgaga ctccatckca aaaa //