LOCUS X69962 4362 bp mRNA linear HUM 24-SEP-2008
DEFINITION H.sapiens FMR-1 mRNA.
ACCESSION X69962
VERSION X69962.1
KEYWORDS Fragile X mental retardation 1; Fragile X syndrome.
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 4362)
AUTHORS Oostra B.A.
JOURNAL Submitted (07-JAN-1993) to the INSDC. B.A. Oostra, Dep. of Clinical
Genetics, Erasmus Uni., P.O. Box 1738, 3000 DR Rotterdam, THE
NETHERLANDS
REFERENCE 2 (bases 1 to 4362)
AUTHORS Verkerk A.J.H.M., de Graaff E., de Boulle K., Eichler E.E.,
Konecki D.S., Reyniers E., Manca A., Poustka A., Willems P.J.,
Nelson D.L., Oostra B.A.
TITLE Alternative splicing in the fragile X gene FMR1
JOURNAL Hum. Mol. Genet. 2(4), 399-404(1993).
PUBMED 8504300
FEATURES Location/Qualifiers
source 1..4362
/db_xref="H-InvDB:HIT000323078"
/organism="Homo sapiens"
/chromosome="X"
/map="Xq27.3"
/mol_type="mRNA"
/db_xref="taxon:9606"
CDS 220..2118
/db_xref="GOA:Q06787"
/db_xref="H-InvDB:HIT000323078.12"
/db_xref="HGNC:HGNC:3775"
/db_xref="InterPro:IPR004087"
/db_xref="InterPro:IPR004088"
/db_xref="InterPro:IPR008395"
/db_xref="InterPro:IPR022034"
/db_xref="InterPro:IPR032196"
/db_xref="InterPro:IPR036612"
/db_xref="InterPro:IPR040148"
/db_xref="InterPro:IPR040472"
/db_xref="InterPro:IPR041560"
/db_xref="PDB:2BKD"
/db_xref="PDB:2FMR"
/db_xref="PDB:2LA5"
/db_xref="PDB:2QND"
/db_xref="PDB:4OVA"
/db_xref="PDB:4QVZ"
/db_xref="PDB:4QW2"
/db_xref="PDB:5DE5"
/db_xref="PDB:5DE8"
/db_xref="PDB:5DEA"
/db_xref="PDB:5UWJ"
/db_xref="PDB:5UWO"
/db_xref="UniProtKB/Swiss-Prot:Q06787"
/protein_id="CAA49586.1"
/translation="MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPF
HDVRFPPPVGYNKDINESDEVEVYSRANEKEPCCWWLAKVRMIKGEFYVIEYAACDAT
YNEIVTIERLRSVNPNKPATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVT
YDPENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASR
FHEQFIVREDLMGLAIGTHGANIQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKAR
SFLEFAEDVIQVPRNLVGKVIGKNGKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMP
PNSLPSNNSRVGPNAPEEKKHLDIKENSTHFSQPNSTKVQRVLVASSVVAGESQKPEL
KAWQGMVPFVFVGTKDSIANATVLLDYHLNYLKEVDQLRLERLQIDEQLRQIGASSRP
PPNRTDKEKSYVTDDGQGMGRGSRPYRNRGHGRRGPGYTSGTNSEASNASETESDHRD
ELSDWSLAPTEEERESFLRRGDGRRRGGGGRGQGGRGRGGGFKGNDDHSRTDNRPRNP
REAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSSEGSRLRTGKDRNQKKEKPDSVDGQ
QPLVNGVP"
exon 1345..1407
/note="alternative exon"
misc_feature 1691..1765
/note="alternative splice"
misc_feature 1957..2007
/note="alternative splice"
polyA_site 3909
BASE COUNT 1340 a 719 c 995 g 1308 t
ORIGIN
1 acggcgagcg cgggcggcgg cggtgacgga ggcgccgctg ccagggggcg tgcggcagcg
61 cggcggcggc ggcggcggcg gcggcggcgg aggcggcggc ggcggcggcg gcggcggcgg
121 aggcggcggc ggcggcggcg gcggcggcgg ctgggcctcg agcgcccgca gcccacctct
181 cgggggcggg ctcccggcgc tagcagggct gaagagaaga tggaggagct ggtggtggaa
241 gtgcggggct ccaatggcgc tttctacaag gcatttgtaa aggatgttca tgaagattca
301 ataacagttg catttgaaaa caactggcag cctgataggc agattccatt tcatgatgtc
361 agattcccac ctcctgtagg ttataataaa gatataaatg aaagtgatga agttgaggtg
421 tattccagag caaatgaaaa agagccttgc tgttggtggt tagctaaagt gaggatgata
481 aagggtgagt tttatgtgat agaatatgca gcatgtgatg caacttacaa tgaaattgtc
541 acaattgaac gtctaagatc tgttaatccc aacaaacctg ccacaaaaga tactttccat
601 aagatcaagc tggatgtgcc agaagactta cggcaaatgt gtgccaaaga ggcggcacat
661 aaggatttta aaaaggcagt tggtgccttt tctgtaactt atgatccaga aaattatcag
721 cttgtcattt tgtccatcaa tgaagtcacc tcaaagcgag cacatatgct gattgacatg
781 cactttcgga gtctgcgcac taagttgtct ctgataatga gaaatgaaga agctagtaag
841 cagctggaga gttcaaggca gcttgcctcg agatttcatg aacagtttat cgtaagagaa
901 gatctgatgg gtctagctat tggtactcat ggtgctaata ttcagcaagc tagaaaagta
961 cctggggtca ctgctattga tctagatgaa gatacctgca catttcatat ttatggagag
1021 gatcaggatg cagtgaaaaa agctagaagc tttctcgaat ttgctgaaga tgtaatacaa
1081 gttccaagga acttagtagg caaagtaata ggaaaaaatg gaaagctgat tcaggagatt
1141 gtggacaagt caggagttgt gagggtgagg attgaggctg aaaatgagaa aaatgttcca
1201 caagaagagg aaattatgcc accaaattcc cttccttcca ataattcaag ggttggacct
1261 aatgccccag aagaaaaaaa acatttagat ataaaggaaa acagcaccca tttttctcaa
1321 cctaacagta caaaagtcca gagggtgtta gtggcttcat cagttgtagc aggggaatcc
1381 cagaaacctg aactcaaggc ttggcagggt atggtaccat ttgtttttgt gggaacaaag
1441 gacagcatcg ctaatgccac tgttcttttg gattatcacc tgaactattt aaaggaagta
1501 gaccagttgc gtttggagag attacaaatt gatgagcagt tgcgacagat tggagctagt
1561 tctagaccac caccaaatcg tacagataag gaaaaaagct atgtgactga tgatggtcaa
1621 ggaatgggtc gaggtagtag accttacaga aatagggggc acggcagacg cggtcctgga
1681 tatacttcag gaactaattc tgaagcatca aatgcttctg aaacagaatc tgaccacaga
1741 gacgaactca gtgattggtc attagctcca acagaggaag agagggagag cttcctgcgc
1801 agaggagacg gacggcggcg tggaggggga ggaagaggac aaggaggaag aggacgtgga
1861 ggaggcttca aaggaaacga cgatcactcc cgaacagata atcgtccacg taatccaaga
1921 gaggctaaag gaagaacaac agatggatcc cttcagatca gagttgactg caataatgaa
1981 aggagtgtcc acactaaaac attacagaat acctccagtg aaggtagtcg gctgcgcacg
2041 ggtaaagatc gtaaccagaa gaaagagaag ccagacagcg tggatggtca gcaaccactc
2101 gtgaatggag taccctaaac tgcataattc tgaagttata tttcctatac catttccgta
2161 attcttattc catattagaa aactttgtta ggccaaagac aaatagtagg caagatggca
2221 cagggcatga aatgaacaca aattatgcta agaatttttt attttttggt attggccata
2281 agcaacaatt ttcagatttg cacaaaaaga taccttaaaa tttgaaacat tgcttttaaa
2341 actacttagc acttcagggc agattttagt tttattttct aaagtactga gcagtgatat
2401 tctttgttaa tttggaccat tttcctgcat tgggtgatca ttcaccagta cattctcagt
2461 ttttcttaat atatagcatt tatggtaatc atattagact tctgttttca atctcgtata
2521 gaagtcttca tgaaatgcta tgtcatttca tgtcctgtgt cagtttatgt tttggtccac
2581 ttttccagta ttttagtgga ccctgaaatg tgtgtgatgt gacatttgtc attttcatta
2641 gcaaaaaaag ttgtatgatc tgtgcctttt ttatatcttg gcaggtagga atattatatt
2701 tggatgcaga gttcagggaa gataagttgg aaacactaaa tgttaaagat gtagcaaacc
2761 ctgtcaaaca ttagtacttt atagaagaat gcatgctttc catatttttt tccttacata
2821 aacatcaggt taggcagtat aaagaatagg acttgttttt gtttttgttt tgttgcactg
2881 aagtttgata aatagtgtta ttgagagaga tgtgtaattt ttctgtatag acaggagaag
2941 aaagaactat cttcatctga gagaggctaa aatgttttca gctaggaaca aatcttcctg
3001 gtcgaaagtt agtaggatat gcctgctctt tggcctgatg accaatttta acttagagct
3061 ttttttttta attttgtctg ccccaagttt tgtgaaattt ttcatatttt aatttcaagc
3121 ttattttgga gagataggaa ggtcatttcc atgtatgcat aataatcctg caaagtacag
3181 gtactttgtc taagaaacat tggaagcagg ttaaatgttt tgtaaacttt gaaatatatg
3241 gtctaatgtt taagcagaat tggaaaagac taagatcggt taacaaataa caactttttt
3301 ttcttttttt cttttgtttt ttgaagtgtt ggggtttggt tttgtttttt gagtcttttt
3361 tttttaagtg aaatttattg aggaaaaata tgtgaaggac cttcactcta agatgttata
3421 tttttcttaa aaagtaactc ctagtagggg taccactgaa tctgtacaga gccgtaaaaa
3481 ctgaagttct gcctctgatg tattttgtga gtttgtttct ttgaattttc attttacagt
3541 tacttttcct tgcatacaaa caagcatata aaatggcaac aaactgcaca tgatttcaca
3601 aatattaaaa agtcttttaa aaagtattgc caaacattaa tgttgatttc tagttattta
3661 ttctgggaat gtatagtatt tgaaaacaga aattggtacc ttgcacacat catctgtaag
3721 ctgtttggtt ttaaaatact gtagataatt aaccaaggta gaatgacctt gtaatgtaac
3781 tgctcttggg caatattctc tgtacatatt agcgacaaca gattggattt tatgttgaca
3841 tttgtttggt tatagtgcaa tatattttgt atgcaagcag tttcaataaa gtttgatctt
3901 cctctgctaa attgatgttg atgcaatcct tacaaatgat tgcttttaaa attttaagct
3961 aggaaaagaa atctatagaa agtgttctgt tacaaaatgt aactgttacc attggaaatt
4021 tcacgtcata ggaagttagc ctttatctac ccaactttca agaaggttct ttaataaagc
4081 gaaaactcaa ccaaatggta cttttccaca gtgtaccatt aaaatatgca ctagtctctt
4141 tttacaaggc tgtattcagc aagggcctaa cttgcttaaa gtgtaattac taacttctaa
4201 aactgtactt tgattcacat gttttcaaat ggagttggag ttcattcata ttacaatatt
4261 tgtgtgctaa acgtgtatgt ttttcagttc aaagtcatga tgtttttaaa atcttattaa
4321 agtttcaaaa atctgaagat tgtttatcta gatgtaaatt tt
//