LOCUS AB050195 1267 bp mRNA linear HUM 09-JUL-2002 DEFINITION Homo sapiens mRNA, partial cds, clone:H2-5, MJD homolog. ACCESSION AB050195 VERSION AB050195.1 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 1267) AUTHORS Ichikawa,Y., Goto,J., Jeong,S., Ogata,K. and Kanazawa,I. TITLE Direct Submission JOURNAL Submitted (18-OCT-2000) to the DDBJ/EMBL/GenBank databases. Contact:Yaeko Ichikawa The University of Tokyo, Neurology; 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan REFERENCE 2 AUTHORS Ichikawa,Y., Goto,J., Hattori,M., Toyoda,A., Ishii,K., Jeong,S.-Y., Hashida,H., Masuda,N., Ogata,K., Kasai,F., Hirai,M., Maciel,P., Rouleau,G.A., Sakaki,Y. and Kanazawa,I. TITLE The genomic structure and expression of MJD, the Machado-Joseph disease gene JOURNAL J. Hum. Genet. 46, 413-422 (2001) COMMENT FEATURES Location/Qualifiers source 1..1267 /chromosome="X" /clone="H5-2" /clone_lib="human testis cDNA library" /country="Japan:Tokyo" /db_xref="H-InvDB:HIT000059553" /db_xref="taxon:9606" /map="Xp22" /mol_type="mRNA" /organism="Homo sapiens" CDS <1..1041 /codon_start=1 /note="homologue of MJD, high homology to a genomic sequence in Xp22" /protein_id="BAB18799.1" /transl_table=1 /translation="EGFLCAQHCLNNLLQGEYFSPVELASIAHQLDEEERMRMAEGGV TSEEYLAFLQQPSENMDDTGFFSIQVISNALKFWGLEIIHFNNPEYQMLGIDPINERS FICNYKQHWFTIRKFGKHWFNLNSLLAGPELISDTCLANFLARLQQQAYSVFVVKGDL PDCEADQLLQIISVEEMDTPKLNGKKLVKQKEHRVYKTVLEKVSEESDESGTSDQDEE DFQRALELSRQETNREDEHLRSTIELSMQGSSGNTSQDLPKTSCVTPASEQPKKIKED YFEKHQQEQKQQQQQSDLPGHSSYLHERATTSSRAIESDLSDDISEDTVQAAVDTILE IMRKNLKIKGEK" BASE COUNT 458 a 226 c 262 g 321 t ORIGIN 1 gaaggtttcc tgtgtgctca gcactgtctg aacaatctat tgcaaggaga atattttagc 61 cctgtggaat tagcctcaat tgcacatcag ctagatgaag aagagaggat gagaatggca 121 gaaggaggag tcaccagtga agagtatctt gcatttttac agcagccttc agaaaacatg 181 gatgataccg gtttcttctc cattcaggta ataagcaatg ccttgaagtt ctggggttta 241 gagatcatcc atttcaataa tcctgaatat cagatgctcg gcattgatcc tataaatgaa 301 agatctttta tatgtaatta taaacaacac tggtttacta ttagaaaatt tggaaaacac 361 tggtttaact tgaattctct cttggcgggt ccagaattaa tatcagatac atgccttgca 421 aatttcttgg ctcgattaca acaacaagca tattctgtat ttgttgtcaa gggtgatctg 481 ccagactgtg aagctgacca actcctgcag atcatcagtg tcgaagagat ggatacacca 541 aaacttaatg gaaaaaaatt agtaaaacaa aaagagcata gagtctataa aacagtcctt 601 gaaaaagtat cagaagaaag tgatgagtct ggaacatcag accaagatga ggaggatttt 661 cagagggccc ttgaactaag ccgccaagaa accaatagag aagatgaaca tctccgcagt 721 actattgagt taagcatgca aggtagttcc ggaaacacat cgcaagatct tccaaagaca 781 tcatgtgtaa ctcctgcttc agaacagccg aagaaaataa aagaagacta ttttgaaaag 841 catcagcagg aacagaagca gcagcaacaa cagtcagatc tgccgggcca cagttcatac 901 ctacacgaaa gggcaacaac aagttcgaga gcaattgaga gtgatctcag tgatgacatc 961 agtgaagaca cagtacaggc cgctgtcgac accattttag aaattatgag aaagaatttg 1021 aaaatcaaag gggaaaaata atgcctttaa aaataattta gatagtcata ctttcccaca 1081 ttatcctgtg tgattatact gtaggatcca ttttggtcat ctgtcaaaga gatgaggaaa 1141 taaggctttt agacagtttg caaacaaaat gacgagagag atgtgggact aaataatgat 1201 cgttcaacta ctagccaagg agacattcag caattaatta aatttaaatt agctttcaaa 1261 aaaaaaa //