LOCUS HSU23851 4168 bp mRNA linear HUM 25-MAR-1997
DEFINITION Human atrophin-1 mRNA, complete cds.
ACCESSION U23851
VERSION U23851.1
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 4168)
AUTHORS Margolis,R.L., Li,S.H., Young,W.S., Wagster,M.V., Stine,O.C.,
Kidwai,A.S., Ashworth,R.G. and Ross,C.A.
TITLE DRPLA gene (atrophin-1) sequence and mRNA expression in human brain
JOURNAL Brain Res. Mol. Brain Res. 36 (2), 219-226 (1996)
PUBMED 8965642
REFERENCE 2 (bases 1 to 4168)
AUTHORS Li,S., McInnis,M.G., Margolis,R.L., Antonarakis,S.E. and Ross,C.A.
TITLE Novel triplet repeat containing genes in human brain: cloning,
expression, and length polymorphisms
JOURNAL Unpublished
REFERENCE 3 (bases 1 to 4168)
AUTHORS Margolis,R.L.
TITLE Direct Submission
JOURNAL Submitted (28-MAR-1995) Russell L. Margolis, Psychiatry, Johns
Hopkins University School of Medicine, 720 Rutland Ave., Baltimore,
MD 21205-2196, USA
FEATURES Location/Qualifiers
source 1..4168
/db_xref="H-InvDB:HIT000218709"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/clone_lib="frontal cortex, cerebellum, and caudate cDNA
libraries (Stratagene)"
/dev_stage="adult"
gene 1..4168
/gene="DRPLA"
CDS 74..3628
/gene="DRPLA"
/codon_start=1
/product="atrophin-1"
/protein_id="AAB50276.1"
/translation="MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSD
GKAEKSRQTAKKARVEEASTPKVNKQGRSEEISESESEETNAPKKTKTEELPRPQSPS
DLDSLDGRSLNDDGSSDPRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHP
PPLFPPSPQPPDSTPRQPEASFEPHPSVTPTGYHAPMEPPTSRMFQAPPGAPPPHPQL
YPGGTGGVLSGPPMGPKGGGAASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPT
TPVGGGNLPSAPPPANFPHVTPNLPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAM
GQGIGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASSSSSSSS
SSASPFPASQALPSYPHSFPPPTSLSVSNQPPKYTQPSLPSQAVWSQGPPPPPPYGRL
LANSNAHPGPFPPSTGAQSTAHPPVSTHHHHHQQQQQQQQQQQQQQHHGNSGPPPPGA
FPHPLEGGSSHHAHPYAMSPSLGSLRPYPPGPAHLPPPHSQVSYSQAGPNGPPVSSSS
NSSSSTSQGSYPCSHPSPSQGPQGAPYPFPPVPTVTTSSATLSTVIATVASSPAGYKT
ASPPGPPPYGKRAPSPGAYKTATPPGYKPGSPPSFRTGTPPGYRGTSPPAGPGTFKPG
SPTVGPGPLPPAGPSGLPSLPPPPAAPASGPPLSATQIKQEPAEEYETPESPVPPARS
PSPPPKVVDVPSHASQSARFNKHLDRGFNSCARSDLYFVPLEGSKLAKKRADLVEKVR
REAEQRAREEKEREREREREKEREREKERELERSVKLAQEGRAPVECPSLGPVPHRPP
FEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNRNHPFYVPLGAVDPGLLGYNV
PALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPLHGVPGPGLDPFPRHGGLA
LQPGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAERLAAERQHAERVAALGN
DPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLIDPLASGSHLTRIPY
PAGTLPNPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQLQAMHAQSAELQR
LALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL"
repeat_region 1532..1561
/gene="DRPLA"
/note="polymorphic CAG repeat encoding glutamine, long
expansion causes DRPLA"
/rpt_type=tandem
/rpt_unit_seq="cag"
/satellite="microsatellite"
polyA_site 4168
/gene="DRPLA"
/note="49 A nucleotides"
BASE COUNT 827 a 1554 c 1046 g 741 t
ORIGIN
1 ttggggtgga gcagagaagt ttctgtattc agctgcccag gcagaggaga atggggtctc
61 cacagcctga agaatgaaga cacgacagaa taaagactcg atgtcaatga ggagtggacg
121 gaagaaagag gcccctgggc cccgggaaga actgagatcg aggggccggg cctcccctgg
181 aggggtcagc acgtccagca gtgatggcaa agctgagaag tccaggcaga cagccaagaa
241 ggcccgagta gaggaagcct ccaccccaaa ggtcaacaag cagggtcgga gtgaggagat
301 ctcagagagt gaaagtgagg agaccaatgc accaaaaaag accaaaactg aggaactccc
361 tcggccacag tctccctccg atctggatag cttggacggg cggagcctta atgatgatgg
421 cagcagcgac cctagggata tcgaccagga caaccgaagc acgtccccca gtatctacag
481 ccctggaagt gtggagaatg actctgactc atcttctggc ctgtcccagg gcccagcccg
541 cccctaccac ccacctccac tctttcctcc ttcccctcaa ccgccagaca gcacccctcg
601 acagccagag gctagctttg aaccccatcc ttctgtgaca cccactggat atcatgctcc
661 catggagccc cccacatctc gaatgttcca ggctcctcct ggggcccctc cccctcaccc
721 acagctctat cccgggggca ctggtggagt tttgtctgga cccccaatgg gtcccaaggg
781 gggaggggct gcctcatcag tggggggccc taatgggggt aagcagcacc ccccacccac
841 tactcccatt tcagtatcaa gctctggggc tagtggtgct cccccaacaa agccgcctac
901 cactccagtg ggtggtggga acctaccttc tgctccacca ccagccaact tcccccatgt
961 gacaccgaac ctgcctcccc cacctgccct gagacccctc aacaatgcat cagcctctcc
1021 ccctggcctg ggggcccaac cactacctgg tcatctgccc tctccccacg ccatgggaca
1081 gggtatcggt ggacttcctc ctggcccaga gaagggccca actctggctc cttcacccca
1141 ctctctgcct cctgcttcct cttctgctcc agcgcccccc atgaggtttc cttattcatc
1201 ctctagtagt agctctgcag cagcctcctc ttccagttct tcctcctctt cctctgcctc
1261 ccccttccca gcttcccagg cattgcccag ctacccccac tctttccctc ccccaacaag
1321 cctctctgtc tccaatcagc cccccaagta tactcagcct tctctcccat cccaggctgt
1381 gtggagccag ggtcccccac cacctcctcc ctatggccgc ctcttagcca acagcaatgc
1441 ccatccaggc cccttccctc cctctactgg ggcccagtcc accgcccacc caccagtctc
1501 aacacatcac catcaccacc agcaacagca acagcagcag cagcagcagc agcagcagca
1561 gcatcacgga aactctgggc cccctcctcc tggagcattt ccccacccac tggagggcgg
1621 tagctcccac cacgcacacc cttacgccat gtctccctcc ctggggtctc tgaggcccta
1681 cccaccaggg ccagcacacc tgcccccacc tcacagccag gtgtcctaca gccaagcagg
1741 ccccaatggc cctccagtct cttcctcttc caactcttcc tcttccactt ctcaagggtc
1801 ctacccatgt tcacacccct ccccttccca gggccctcaa ggggcgccct accctttccc
1861 accggtgcct acggtcacca cctcttcggc taccctttcc acggtcattg ccaccgtggc
1921 ttcctcgcca gcaggctaca aaacggcctc cccacctggg cccccaccgt acggaaagag
1981 agccccgtcc ccgggggcct acaagacagc caccccaccc ggatacaaac ccgggtcgcc
2041 tccctccttc cgaacgggga ccccaccggg ctatcgagga acctcgccac ctgcaggccc
2101 agggaccttc aagccgggct cgcccaccgt gggacctggg cccctgccac ctgcggggcc
2161 ctcaggcctg ccatcgctgc caccaccacc tgcggcccct gcctcagggc cgcccctgag
2221 cgccacgcag atcaaacagg agccggctga ggagtatgag acccccgaga gcccggtgcc
2281 cccagcccgc agcccctcgc cccctcccaa ggtggtagat gtacccagcc atgccagtca
2341 gtctgccagg ttcaacaaac acctggatcg cggcttcaac tcgtgcgcgc gcagcgacct
2401 gtacttcgtg ccactggagg gctccaagct ggccaagaag cgggccgacc tggtggagaa
2461 ggtgcggcgc gaggccgagc agcgcgcgcg cgaagaaaag gagcgcgagc gcgagcggga
2521 acgcgagaaa gagcgcgagc gcgagaagga gcgcgagctt gaacgcagcg tgaagttggc
2581 tcaggagggc cgtgctccgg tggaatgccc atctctgggc ccagtgcccc atcgccctcc
2641 atttgaaccg ggcagtgcgg tggctacagt gcccccctac ctgggtcctg acactccagc
2701 cttgcgcact ctcagtgaat atgcccggcc tcatgtcatg tctcctggca atcgcaacca
2761 tccattctac gtgcccctgg gggcagtgga cccggggctc ctgggttaca atgtcccggc
2821 cctgtacagc agtgatccag ctgcccggga gagggaacgg gaagcccgtg aacgagacct
2881 ccgtgaccgc ctcaagcctg gctttgaggt gaagcctagt gagctggaac ccctacatgg
2941 ggtccctggg ccgggcttgg atccctttcc ccgacatggg ggcctggctc tgcagcctgg
3001 cccacctggc ctgcaccctt tcccctttca tccgagcctg gggcccctgg agcgagaacg
3061 tctagcgctg gcagctgggc cagccctgcg gcctgacatg tcctatgctg agcggctggc
3121 agctgagagg cagcacgcag aaagggtggc ggccctgggc aatgacccac tggcccggct
3181 gcagatgctc aatgtgactc cccatcacca ccagcactcc cacatccact cgcacctgca
3241 cctgcaccag caagatgcta tccatgcagc ctctgcctcg gtgcaccctc tcattgaccc
3301 cctggcctca gggtctcacc ttacccggat cccctaccca gctggaactc tccctaaccc
3361 cctgcttcct caccctctgc acgagaacga agttcttcgt caccagctct ttgctgcccc
3421 ttaccgggac ctgccggcct ccctttctgc cccgatgtca gcagctcatc agctgcaggc
3481 catgcacgca cagtcagctg agctgcagcg cttggcgctg gaacagcagc agtggctgca
3541 tgcccatcac ccgctgcaca gtgtgccgct gcctgcccag gaggactact acagtcacct
3601 gaagaaggaa agcgacaagc cactgtagaa cctgcgatca agagagcacc atggctccta
3661 cattggacct tggagcaccc ccaccctccc cccaccgtgc ccttggcctg ccacccagag
3721 ccaagagggt gctgctcagt tgcagggcct ccgcagctgg acagagagtg ggggagggag
3781 ggacagacag aaggccaagg cccgatgtgg tgtgcagagg tggggaggtg gcgaggatgg
3841 ggacagaaag cgcacagaat cttggaccag gtctctcttc cttgtccccc ctgcttttct
3901 cctcccccat gcccaacccc tgtggccgcc gcccctcccc tgccccgttg gtgtgattat
3961 ttcatctgtt agatgtggct gttttgcgta gcatcgtgtg ccacccctgc ccctccccga
4021 tccctgtgtg cgcgccccct ctgcaatgta tgccccttgc cccttcccca cactaataat
4081 ttatatatat aaatatctat atgacgctct taaaaaaaca tcccaaccaa aaccaaccaa
4141 acaaaaacat cctcacaact ccccagga
//