1: AJ010063. Homo sapiens telet...[gi:3688391]

LOCUS       HSA010063    1730 bp    DNA             PRI       07-JAN-2000

DEFINITION  Homo sapiens telethonin gene.

ACCESSION   AJ010063

KEYWORDS    telethonin gene.

SOURCE      human.

  ORGANISM  Homo sapiens

            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Mammalia;

            Eutheria; Primates; Catarrhini; Hominidae; Homo.

REFERENCE   1  (bases 1 to 1730)

  AUTHORS   Pallavicini,A., Valle,G. and Lanfranchi,G.

  TITLE     Human telethonin genomic sequence

  JOURNAL   Unpublished

REFERENCE   2  (bases 1 to 1730)

  AUTHORS   Pallavicini,A.L.

  TITLE     Direct Submission

  JOURNAL   Submitted (06-AUG-1998) Pallavicini A.L., Complesso interdipartim.

            Vallisneri Dipartimento di Biologia, Universita di Padova, via

            G.Colombo 3, 35121, ITALY

FEATURES             Location/Qualifiers

     source          1..1730

                     /organism="Homo sapiens"

                     /db_xref="taxon:9606"

                     /chromosome="17"

                     /map="q12"

     TATA_signal     488..495

                     /gene="telethonin"

     gene            488..1730

                     /gene="telethonin"

     promoter        504..529

                     /gene="telethonin"

     5'UTR           520..529

                     /gene="telethonin"

                     /evidence=experimental

     exon            520..639

                     /gene="telethonin"

                     /number=1

     mRNA            join(520..639,887..1730)

                     /gene="telethonin"

     CDS             join(530..639,887..1280)

                     /gene="telethonin"

                     /codon_start=1

                     /product="telethonin"

                     /db_xref="SWISS-PROT:O15273"

                     /translation="MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEED

                     TQRHETYHQQGQCQVLVQRSPWLMMRMGILGRGLQEYQLPYQRVLPLPIFTPAKMGAT

                     KEEREDTPIQLQELLALETALGGQCVDRQEVAEITKQLPPVVPVSKPGALRRSLSRSM

                     SQEAQRG"

     intron          640..886

                     /gene="telethonin"

                     /number=1

     exon            887..1280

                     /gene="telethonin"

                     /number=2

     3'UTR           1281..1730

                     /gene="telethonin"

                     /evidence=experimental

     STS             1451..1630

                     /gene="telethonin"

                     /note="mapped with RH GB4 on chromosome 17q12"

     polyA_signal    1707..1712

                     /gene="telethonin"

                     /evidence=experimental

     polyA_site      1730

                     /gene="telethonin"

                     /evidence=experimental

BASE COUNT      348 a    486 c    612 g    280 t      4 others

ORIGIN      

        1 gtggtgaggg tgactgggga ctaggcacta ggcctttggt gcaggcgcct gaggacktgg

       61 ttgcactctc ccttctgggg atatgccctt gagcccaggc agaggagagc acagcccagg

      121 gcaggacctg gcagccctgg tacagagccc agagggggca tcagttcctg ctggtcctgc

      181 tctgtttaca gacaasctgc tgtcctccct gcaaagggga gtgggtgggg cagagggcaa

      241 ktgccagggg ggcacaaggc tgggcatgtg gctggcatga gacggtgtct gagtaatgtc

      301 aggcacctgg aggcattgac cccaggacct tggaccccag acctctgacc gtggggcagc

      361 cagcgtccag gtaccccaac ccctgccctg ggtccggcgt ccccccatta gtgagtcttg

      421 gctctactta tagcatctga caccagaggg gccgaaaata gcccctggag aagggggagg

      481 agggggctat ttaaagggcc tgggagggga gagagaatga ggagtgatca tggctacctc

      541 agagctgagc tgcgaggtgt cggaggagaa ctgtgagcgc cgggaggcct tctgggcaga

      601 atggaaggat ctgacactgt ccacacggcc cgaggagggg tgagtgtggg tctgctagag

      661 tccctgcctc tgctccccca gagcaccctc actgagccat gaggccagag catgaagccc

      721 tggagaaatt tctgggggtg ggggcaggaa gaatgcccca tggggagagc aaaggggaac

      781 cacccttcct gcccccaggt cccagcagcc caggggagcc ccccacccag cctgtgccca

      841 gagagcaaca gctcccagga gctcactgcc cctcccctct ccccagctgc tccctgcatg

      901 aggaggacac ccagagacat gagacctacc accagcaggg gcagtgccag gtgctggtgc

      961 agcgctcgcc ctggctgatg atgcggatgg gcatcctcgg ccgtgggctg caggagtacc

     1021 agctgcccta ccagcgggta ctgccgctgc ccatcttcac ccctgccaag atgggcgcca

     1081 ccaaggagga gcgtgaggac acccccatcc agcttcagga gctgctggcg ctggagacag

     1141 ccctgggtgg ccagtgtgtg gaccgccagg aggtggctga gatcacaaag cagctgcccc

     1201 ctgtggtgcc tgtcagcaag cccggtgcmc ttcgtcgctc cctgtcccgc tccatgtccc

     1261 aggaagcaca gagaggctga gagggactgt gacttgggct ccgctgtgcc cgccccctgg

     1321 gctgggccct tcctggctag gacctgtgga ggggcagctc gctggcccat ggctgctttg

     1381 tagtttgccc agagttgggg gctaggggag gggggagcca gaggccagga tgcctgagcc

     1441 ccctgagttc ccaaagggag ggtggcagag acagtgggca ctaagggtgg agagttgggg

     1501 gccagcacag ctgaggaccc tcagccccag gagaagggac aaaaggtact ggtgagggca

     1561 agaggtgcct gggaggagtg gccctgatcc aggaaaatgt gaggggaatc tggaacgctc

     1621 taggcagaag aagctgggag ggagggggag gtgaaaaggg cagaggcaag gatggtgggg

     1681 cccccagcac cctctgttag tgccgcaata aatgctcaat catgtgccag 

//