LOCUS       HSU39817                4437 bp    mRNA    linear   HUM 16-FEB-1996
DEFINITION  Human Bloom's syndrome protein (BLM) mRNA, complete cds.
ACCESSION   U39817
VERSION     U39817.1
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 4437)
  AUTHORS   Ellis,N.A., Groden,J., Ye,T.Z., Straughen,J., Lennon,D.J.,
            Ciocci,S., Proytcheva,M. and German,J.
  TITLE     The Bloom's syndrome gene product is homologous to RecQ helicases
  JOURNAL   Cell 83 (4), 655-666 (1995)
   PUBMED   7585968
REFERENCE   2  (bases 1 to 4437)
  AUTHORS   Ellis,N.
  TITLE     Direct Submission
  JOURNAL   Submitted (01-NOV-1995) Nathan A. Ellis, Human Genetics, New York
            Blood Center, 310 E 67th St., New York, NY 10021, USA
FEATURES             Location/Qualifiers
     source          1..4437
                     /db_xref="H-InvDB:HIT000219697"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
                     /cell_line="lymphoblastoid; normal diploid fibroblast"
                     /cell_type="HeLa"
     gene            1..4437
                     /gene="BLM"
     CDS             75..4328
                     /gene="BLM"
                     /note="putative DNA helicase; contain motifs similar to
                     the seven helicase motifs in RecQ helicases"
                     /codon_start=1
                     /product="Bloom's syndrome protein"
                     /protein_id="AAA87850.1"
                     /db_xref="GI:1072122"
                     /translation="MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSD
                     NNVSVTNVSVAKTPVLRNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRG
                     GSKSLLPDFLQTPKEVVCTTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDF
                     DTSETSKSFVTPPQSHFVRVSTAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQI
                     DLTEEQKDDSEWLSSDVICIDDGPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLE
                     EAELHSTEKVPCIEFDDDDYDTDFVPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDV
                     LSTSKDLLSKPEKMSMQELNPETSTDCDARQISLQQQLIHVMEHICKLIDTIPDDKLK
                     LLDCGNELLQQRNIRRKLLTEVDFNKSDASLLGSLWRYRPDSLDGPMEGDSCPTGNSM
                     KELNFSHLPSNSVSPGDCLLTTTLGKTGFSATRKNLFERPLFNTHLQKSFVSSNWAET
                     PRLGKKNESSYFPGNVLTSTAVKDQNKHTASINDLERETQPSYDIDNFDIDDFDDDDD
                     WEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERLSSAKTDCLPVSSTAQNINFSESIQ
                     NYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLG
                     EDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLIVDQVQKLTSLDIPATYLTGD
                     KTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTLENLYERKLLARFVIDEAH
                     CVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKDILTQLKILRPQVFSMS
                     FNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRECDTMADTLQRDGLA
                     ALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRFVIHASLPKSVEG
                     YYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHFNNLYSMVHYC
                     ENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDDVKSIVRFV
                     QEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRHNAERLF
                     KKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKKQKAL
                     VAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVLLQ
                     IDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP
                     VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIG
                     SSSASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS"
BASE COUNT         1465 a          865 c          913 g         1194 t
ORIGIN      
        1 gcgcggcggc cgtggttgcg gcgcgggaag tttggatcct ggttccgtcc gctaggagtc
       61 tgcgtgcgag gattatggct gctgttcctc aaaataatct acaggagcaa ctagaacgtc
      121 actcagccag aacacttaat aataaattaa gtctttcaaa accaaaattt tcaggtttca
      181 cttttaaaaa gaaaacatct tcagataaca atgtatctgt aactaatgtg tcagtagcaa
      241 aaacacctgt attaagaaat aaagatgtta atgttaccga agacttttcc ttcagtgaac
      301 ctctacccaa caccacaaat cagcaaaggg tcaaggactt ctttaaaaat gctccagcag
      361 gacaggaaac acagagaggt ggatcaaaat cattattgcc agatttcttg cagactccga
      421 aggaagttgt atgcactacc caaaacacac caactgtaaa gaaatcccgg gatactgctc
      481 tcaagaaatt agaatttagt tcttcaccag attctttaag taccatcaat gattgggatg
      541 atatggatga ctttgatact tctgagactt caaaatcatt tgttacacca ccccaaagtc
      601 actttgtaag agtaagcact gctcagaaat caaaaaaggg taagagaaac ttttttaaag
      661 cacagcttta tacaacaaac acagtaaaga ctgatttgcc tccaccctcc tctgaaagcg
      721 agcaaataga tttgactgag gaacagaagg atgactcaga atggttaagc agcgatgtga
      781 tttgcatcga tgatggcccc attgctgaag tgcatataaa tgaagatgct caggaaagtg
      841 actctctgaa aactcatttg gaagatgaaa gagataatag cgaaaagaag aagaatttgg
      901 aagaagctga attacattca actgagaaag ttccatgtat tgaatttgat gatgatgatt
      961 atgatacgga ttttgttcca ccttctccag aagaaattat ttctgcttct tcttcctctt
     1021 caaaatgcct tagtacgtta aaggaccttg acacatctga cagaaaagag gatgttctta
     1081 gcacatcaaa agatcttttg tcaaaacctg agaaaatgag tatgcaggag ctgaatccag
     1141 aaaccagcac agactgtgac gctagacaga taagtttaca gcagcagctt attcatgtga
     1201 tggagcacat ctgtaaatta attgatacta ttcctgatga taaactgaaa cttttggatt
     1261 gtgggaacga actgcttcag cagcggaaca taagaaggaa acttctaacg gaagtagatt
     1321 ttaataaaag tgatgccagt cttcttggct cattgtggag atacaggcct gattcacttg
     1381 atggccctat ggagggtgat tcctgcccta cagggaattc tatgaaggag ttaaattttt
     1441 cacaccttcc ctcaaattct gtttctcctg gggactgttt actgactacc accctaggaa
     1501 agacaggatt ctctgccacc aggaagaatc tttttgaaag gcctttattc aatacccatt
     1561 tacagaagtc ctttgtaagt agcaactggg ctgaaacacc aagactagga aaaaaaaatg
     1621 aaagctctta tttcccagga aatgttctca caagcactgc tgtgaaagat cagaataaac
     1681 atactgcttc aataaatgac ttagaaagag aaacccaacc ttcctatgat attgataatt
     1741 ttgacataga tgactttgat gatgatgatg actgggaaga cataatgcat aatttagcag
     1801 ccagcaaatc ttccacagct gcctatcaac ccatcaagga aggtcggcca attaaatcag
     1861 tatcagaaag actttcctca gccaagacag actgtcttcc agtgtcatct actgctcaaa
     1921 atataaactt ctcagagtca attcagaatt atactgacaa gtcagcacaa aatttagcat
     1981 ccagaaatct gaaacatgag cgtttccaaa gtcttagttt tcctcataca aaggaaatga
     2041 tgaagatttt tcataaaaaa tttggcctgc ataattttag aactaatcag ctagaggcga
     2101 tcaatgctgc actgcttggt gaagactgtt ttatcctgat gccgactgga ggtggtaaga
     2161 gtttgtgtta ccagctccct gcctgtgttt ctcctggggt cactgttgtc atttctccct
     2221 tgagatcact tatcgtagat caagtccaaa agctgacttc cttggatatt ccagctacat
     2281 atctgacagg tgataagact gactcagaag ctacaaatat ttacctccag ttatcaaaaa
     2341 aagacccaat cataaaactt ctatatgtca ctccagaaaa gatctgtgca agtaacagac
     2401 tcatttctac tctggagaat ctctatgaga ggaagctctt ggcacgtttt gttattgatg
     2461 aagcacattg tgtcagtcag tggggacatg attttcgtca agattacaaa agaatgaata
     2521 tgcttcgcca gaagtttcct tctgttccgg tgatggctct tacggccaca gctaatccca
     2581 gggtacagaa ggacatcctg actcagctga agattctcag acctcaggtg tttagcatga
     2641 gctttaacag acataatctg aaatactatg tattaccgaa aaagcctaaa aaggtggcat
     2701 ttgattgcct agaatggatc agaaagcacc acccatatga ttcagggata atttactgcc
     2761 tctccaggcg agaatgtgac accatggctg acacgttaca gagagatggg ctcgctgctc
     2821 ttgcttacca tgctggcctc agtgattctg ccagagatga agtgcagcag aagtggatta
     2881 atcaggatgg ctgtcaggtt atctgtgcta caattgcatt tggaatgggg attgacaaac
     2941 cggacgtgcg atttgtgatt catgcatctc tccctaaatc tgtggagggt tactaccaag
     3001 aatctggcag agctggaaga gatggggaaa tatctcactg cctgcttttc tatacctatc
     3061 atgatgtgac cagactgaaa agacttataa tgatggaaaa agatggaaac catcatacaa
     3121 gagaaactca cttcaataat ttgtatagca tggtacatta ctgtgaaaat ataacggaat
     3181 gcaggagaat acagcttttg gcctactttg gtgaaaatgg atttaatcct gatttttgta
     3241 agaaacaccc agatgtttct tgtgataatt gctgtaaaac aaaggattat aaaacaagag
     3301 atgtgactga cgatgtgaaa agtattgtaa gatttgttca agaacatagt tcatcacaag
     3361 gaatgagaaa tataaaacat gtaggtcctt ctggaagatt tactatgaat atgctggtcg
     3421 acattttctt ggggagtaag agtgcaaaaa tccagtcagg tatatttgga aaaggatctg
     3481 cttattcacg acacaatgcc gaaagacttt ttaaaaagct gatacttgac aagattttgg
     3541 atgaagactt atatatcaat gccaatgacc aggcgatcgc ttatgtgatg ctcggaaata
     3601 aagcccaaac tgtactaaat ggcaatttaa aggtagactt tatggaaaca gaaaattcca
     3661 gcagtgtgaa aaaacaaaaa gcgttagtag caaaagtgtc tcagagggaa gagatggtta
     3721 aaaaatgtct tggagaactt acagaagtct gcaaatctct ggggaaagtt tttggtgtcc
     3781 attacttcaa tatttttaat accgtcactc tcaagaagct tgcagaatct ttatcttctg
     3841 atcctgaggt tttgcttcaa attgatggtg ttactgaaga caaactggaa aaatatggtg
     3901 cggaagtgat ttcagtatta cagaaatact ctgaatggac atcgccagct gaagacagtt
     3961 ccccagggat aagcctgtcc agcagcagag gccccggaag aagtgccgct gaggagcttg
     4021 acgaggaaat acccgtatct tcccactact ttgcaagtaa aaccagaaat gaaaggaaga
     4081 ggaaaaagat gccagcctcc caaaggtcta agaggagaaa aactgcttcc agtggttcca
     4141 aggcaaaggg ggggtctgcc acatgtagaa agatatcttc caaaacgaaa tcctccagca
     4201 tcattggatc cagttcagcc tcacatactt ctcaagcgac atcaggagcc aatagcaaat
     4261 tggggattat ggctccaccg aagcctataa atagaccgtt tcttaagcct tcatatgcat
     4321 tctcataaca accgaatctc aatgtacata gaccctcttt cttgtttgtc agcatctgac
     4381 catctgtgac tataaagctg ttattcttgt tataccaaaa aaaaaaaaaa aaaaaaa
//