LOCUS AF026029 6002 bp DNA linear HUM 20-FEB-1998
DEFINITION Homo sapiens poly(A) binding protein II (PABP2) gene, complete cds.
ACCESSION AF026029
VERSION AF026029.1
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 6002)
AUTHORS Brais,B., Bouchard,J.-P., Xie,Y.-G., Rochefort,D.L., Chretien,N.,
Tome,F.M.S., Lafreniere,R.G., Rommens,J.M., Uyama,E., Nohira,O.,
Blumen,S., Korcyn,A.D., Heutink,P., Mathieu,J., Duranceau,A.,
Codere,F., Fardeau,M. and Rouleau,G.A.
TITLE Short GCG expansions in the PABP2 gene cause oculopharyngeal
muscular dystrophy
JOURNAL Nat. Genet. 18 (2), 164-167 (1998)
PUBMED 9462747
REFERENCE 2 (bases 1 to 6002)
AUTHORS Brais,B. and Rouleau,G.A.
TITLE Direct Submission
JOURNAL Submitted (19-SEP-1997) Neurology, Montreal General Hospital, 1650
Avenue Cedar, Montreal, Quebec H3G 1A4, Canada
FEATURES Location/Qualifiers
source 1..6002
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/chromosome="14"
/map="14q11"
gene 1..6002
/gene="PABP2"
mRNA join(1..1633,1985..2098,2808..2876,3186..3291,3772..3860,
3946..4097,5059..6002)
/gene="PABP2"
/product="poly(A) binding protein II"
5'UTR 1..1282
/gene="PABP2"
CDS join(1283..1633,1985..2098,2808..2876,3186..3291,
3772..3860,3946..4097,5059..5098)
/gene="PABP2"
/codon_start=1
/product="poly(A) binding protein II"
/protein_id="AAC39596.1"
/translation="MAAAAAAAAAAGAAGGRGSGPGRRRHLVPGAGGEAGEGAPGGAG
DYGNGLESEELEPEELLLEPEPEPEPEEEPPRPRAPPGAPGPGPGSGAPGSQEEEEEP
GLVEGDPGDGAIEDPELEAIKARVREMEEEAEKLKELQNEVEKQMNMSPPPGNAGPVI
MSIEEKMEADARSIYVGNVDYGATAEELEAHFHGCGSVNRVTILCDKFSGHPKGFAYI
EFSDKESVRTSLALDESLFRGRQIKVIPKRTNRPGISTTDRGFPRARYRARTTNYNSS
RSRFYSGFNSRPRGRVYRGRARATSWYSPY"
intron 1634..1984
/gene="PABP2"
/note="present in 60% of cDNA clones; when transcribed,
this intron is not involved in alternative splicing; when
transcribed, this intron is non-coding; specific probes
for this intron's sequence hybridize with the appropriate
bands on Northern blots"
/number=1
intron 4098..5058
/gene="PABP2"
/note="present in 60% of cDNA clones; when transcribed,
this intron is not involved in alternative splicing; when
transcribed, this intron is non-coding; specific probes
for this intron's sequence hybridize with the appropriate
bands on Northern blots"
/number=7
3'UTR 5099..6002
/gene="PABP2"
BASE COUNT 1405 a 1340 c 1697 g 1559 t
ORIGIN
1 aatgaaggtg gacacccaaa tagccccaat acaaatgcct gttcaatcaa ccaaacatct
61 aagcagcaca tctatgtggt agcatattgc caggccgtga gactgcgaat ataaatagga
121 accgcccctc atctgcaggc gctcacaacc tagttagcaa acagtaaaac aattaagcgc
181 gccgtggaca taggcccact tgtcctggga aatgagggga agctggggtt tgcagtggtt
241 tgattgaagg gggactacat gttagaggca cagactgggt gcaggtacac ccaaaggaac
301 gagaagagtg gaaggaaaca acatccacaa agtaaccaca tgctggcgta tcgaaggccg
361 tgatttacgg ttttgagact ttacctcgcc agcaaagggg ggccagtctg ttagcggtgc
421 agattggagg ggtgacattg gaagctgtcc aggaaaaaga aaatggaact ggggagcaga
481 aggcctacgc aagagggcgg gacagacagg acttgtgact agtagctctg gactgaggaa
541 tcctccctgc tttctggtgc gggagagcta gtggatgatg gtgccaataa cctggatggg
601 gaaagtaagc tccctcctgg aatgcttcat tcacaacctc cattttcagc aacatcccat
661 ctactggtgc ttcctggtcg agatacaagt ttcctgaaac tgctgctctg ttttgggcct
721 cacccggcca acagctcact agctggcaag cagtagtatc aagatggcgg ccccctagga
781 ctggctagtc atgtgacctc gggtttccca agtttgaagc ccggcagtcc tttcgggggc
841 aaggttcacc tgtcacgaaa cgagtgtcac cccttcgact ctcgcaagcc aatcggcatc
901 tgagactggg ccactgcggt gaggcgatcg gaagattggt cctttccagt cgcctagcta
961 gggccaatca cggagcgtcc catacttcgc gggcccgccc gtaggccggg gagaagcagg
1021 aatatcgtca cagcgtggcg gtattattac ctaaggactc gataggaggt gggacgcgtg
1081 ttgattgaca ggcagatttc cctaccggga tttgagaatt tggcgcagtg cccgccttag
1141 aggtgcgctt atttgattgc caagtaatat tccccaatgg agtactagct catggtgacg
1201 ggcaggcagc ttgagctaat gagtcctccg tggccggcgc agctctccac atgccgggcg
1261 gcgggcccca gtctgagcgg cgatggcggc ggcggcggcg gcggcagcag cagcgggggc
1321 tgcgggcggt cggggctccg ggccggggcg gcggcgccat cttgtgcccg gggccggtgg
1381 ggaggccggg gagggggccc cggggggcgc aggggactac gggaacggcc tggagtctga
1441 ggaactggag cctgaggagc tgctgctgga gcccgagccg gagcccgagc ccgaagagga
1501 gccgccccgg ccccgcgccc ccccgggagc tccgggccct gggcctggtt cgggagcccc
1561 cggcagccaa gaggaggagg aggagccggg actggtcgag ggtgacccgg gggacggcgc
1621 cattgaggac ccggtgagga aggagggcga gcgagcaggc cggcggctgg cgcgtcactg
1681 gaggcccaga gctcgggcga gcggtggcag gcggggggtg gggttgggcg gggaataacg
1741 tggctggggc gggtcgggcc ggggatgggt cagcgatcac tacaaggggc ccgactggct
1801 tgattcgggc gtcacgggtg cctagtgttg ttctagagag ggtagctttt cttttatcac
1861 gaccctcgca tggggcgagg gaaatggccg agcatggctg aggcgcgctc tggccgagag
1921 cagggcacag cccctgcgtt ggttcctctt aagctgtcct ccataccctc cccacttata
1981 ttaggagctg gaagctatca aagctcgagt cagggagatg gaggaagaag ctgagaagct
2041 aaaggagcta cagaacgagg tagagaagca gatgaatatg agtccacctc caggcaatgc
2101 tgagtaactg gcggttgcac gcggagcccg ggttctcggg ttggaagggt tgtggggagg
2161 atggggaatg tggggttaga tactcggcac cctggagctg cttgtctgag ctattatgac
2221 tgtgccgcgg tcatagtccg ttgtgtgttc ctctgacctt tgtgaggcag aactgatatt
2281 ttggtggtgg tagccttgtg cctccctttg tcctgttata attgtgttgc tctttattct
2341 tagtctacgt ctatctttct ttggtagagg ttgcgtgctc gcatttgacc ttcaaatcta
2401 atagtttttc ctccaattgg agacgcttta ggattctaag agaaagcaag ctggaagggg
2461 tttccccttt aaattctaga aatgtggagt ctcagcccac ttaattttgc tcactcttaa
2521 aagcatttca accaaagcca ttcattaggg atttgatttg gagggcagga gggattccta
2581 tactgtttta agtgtgtatt aattctttca atttatcgaa ttatttagtg agtaacctgc
2641 tatgcactag gcactattct cggcttgtgg gtacagcagg gaacagcaca gaccaaaatc
2701 tttgccttca ctgagcttat gggatagtgc tggtggtgga agtgcaacat attggtcaag
2761 tagaaaacaa gtgtgtggtt tttgtaaaaa attatttttt cctgatagct ggcccggtga
2821 tcatgtccat tgaggagaag atggaggctg atgcccgttc catctatgtt ggcaatgtga
2881 cgtactgggg ctctgactgg ggttgggggc aagttcttct tttggggaat tatttaatag
2941 tcctgaaaga acatctccgg gatagatgtg gttttgggtg tggagggagt gtgggaagga
3001 ggttaaaggt aatggaatga tcagtaatca gcaaaggctc tgggtttgga aggaaaagag
3061 attaattcct caaattacca gatttcatgt gctttggtgt atgatggccc agaccaaagg
3121 ctcgggaggg ttcttttgag acaggaattt gcctggtgcc tgtgaaattt ttctcctctc
3181 atcaggtgga ctatggtgca acagcagaag agctggaagc tcactttcat ggctgtggtt
3241 cagtcaaccg tgttaccata ctgtgtgaca aatttagtgg ccatcccaaa ggtaaagtaa
3301 aggggagtaa gttgagataa tttaaattac agtgtacaaa tagataaatt atgttttata
3361 ttgagcagta agttatttgg tgttaacaca ggtgatctgt gtcatttaag atcatggcat
3421 taatgttgat atatcaggag ttgcacctaa atgtcttcag aggccagata acaaaaatga
3481 aggctagatg tgggtgggat tacgaactag aaggggaggg gcagcttcta cttggcctat
3541 tatggcatat ggaaattcag gccctgtgtg tcttattttt acaaatttca aagagtagct
3601 ggaaatttta aaatttaaat gatttcgaat gattgaaatt ttccatttag aagaattttg
3661 acaaataaaa aatataactg cattgtagcc caaaacgaag catgcctgca ggttgaattt
3721 gacctgtgag gtatttgtaa cctcagagag atacaatgac aattcttttc aggtttgcgt
3781 atatagagtt ctcagacaaa gagtcagtga ggacttcctt ggccttagat gagtccctat
3841 ttagaggaag gcaaatcaag gtaagcctat gtccattgct gttctagttg tgtataaact
3901 ctccaggttg cctttaaggc tatcatttgt tcatctctga ctcaggtgat cccaaaacga
3961 accaacagac caggcatcag cacaacagac cggggttttc cacgagcccg ctaccgcgcc
4021 cggaccacca actacaacag ctcccgctct cgattctaca gtggttttaa cagcaggccc
4081 cggggtcgcg tctacaggtc aggatagatg ggctgctcct ctttcccccg cctcccgtga
4141 gccccgtatg cttcctcctc tctggtctga ggaacctccc tccccccacc cctccccgtg
4201 gtcttcagga actttgtctc ctgcctgtgc aggttgagga aggtagttgc aggccaggcc
4261 agaaggcagc ctcatcatct tttctgcagt agaaattggt gataagggct gcatccctcc
4321 cttggttcaa agaggcttcc acccccagcc ttttttttct tgggagttgg tggcatttga
4381 aggtgtttgc ggacaaaact gggaggaaca gggcctccag gaagttgaaa gcactgcttg
4441 gacatttgtt acttttttcg gagttaggga gggattgaag actgaacctc ccttggaaga
4501 ataccagagg ctagctagtt gatcctccca acagccttgt gggaggattt tgagatactt
4561 attctttatt tgagccagtc ttgcaaggtt aacttctcac tgggcctagt gtggtnccca
4621 ggtttttgcc ttgcttcact tctgtctcta catttaaata gacgggttag gcatataaac
4681 cttggctttt cataagctct acctgcctat ccccaggagt tagggaggat ctatttgtga
4741 aggccctagg gtttaaaaac tgtggaggac tgaaaaactg gataaaaagg gggtcctttt
4801 ccttgcccct gtctctcact cagatgcgct tctttttcgc cactgtttgg caaagttttc
4861 tgttaagccc ccctccccct gccccagttc tcccaggtgc gttactattt ctgggatcat
4921 ggggtcggtt ttaggacact tgaacacttc ttttcccccc ttcccttcac agtaactggg
4981 gcaggggcct acggggaggg gcttgtactg aactatctag tgatcacgtt aacacctaac
5041 tctccttctt tcttccaggg gccgggctag agcgacatca tggtattccc cttactaaaa
5101 aaagtgtgta ttaggaggag agagaggaaa aaaagaggaa agaaggaaaa aaaaaagaat
5161 taaaaaaaaa aaaaagaaaa acagaagatg accttgatgg aaaaaaaata ttttttaaaa
5221 aaaagatata ctgtggaagg ggggagaatc ccataactaa ctgctgagga gggacctgct
5281 ttggggagta ggggaaggcc cagggagtgg ggcagggggc tgcttattca ctctggggat
5341 tcgccatgga cacgtctcaa ctgcgcaagc tgcttgccca tgtttccctg cccccttcac
5401 ccccttgggc ctgctcaagg gtaggtgggc gtgggtggta ggagggtttt ttttacccag
5461 ggctctggaa ggacaccaaa ctgttctgct tgttaccttc cctcccgtct tctcctcgcc
5521 tttcacagtc ccctcctgcc tgctcctgtc cagccaggtc taccacccac cccacccctc
5581 tttctccggc tccctgcccc tccagattgc ctggtgatct attttgtttc cttttgtgtt
5641 tctttttctg ttttgagtgt ctttctttgc aggtttctgt agccggaaga tctccgttcc
5701 gctcccagcg gctccagtgt aaattcccct tccccctggg gaaatgcact accttgtttt
5761 ggggggttta ggggtgtttt tgtttttcag ttgttttgtt tttttgtttt ttttttttcc
5821 tttgcctttt ttccctttta tttggaggga atgggaggaa gtgggaacag ggaggtggga
5881 ggtggatttt gtttattttt ttagctcatt tccaggggtg ggaatttttt tttaatatgt
5941 gtcatgaata aagttgtttt tgaaaataaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
6001 aa
//