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Gene Model: Blm

NomenclatureGenomic Location
SymbolBlmChromosome2
NameBloom syndrome proteinLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 42 Mbp

Molecular Function

Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction.

ATP + H2O = ADP + phosphate.

Molecular Function Terms:

binding
   nucleic acid binding
      DNA binding
         structure-specific DNA binding
            DNA secondary structure binding
            double-stranded DNA binding
            G-quadruplex DNA binding
            single-stranded DNA binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               ATP binding
   protein binding
      p53 binding

catalytic activity
   hydrolase activity
      hydrolase activity, acting on acid anhydrides
         hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
            pyrophosphatase activity
               nucleoside-triphosphatase activity
                  ATPase activity
                  helicase activity

Human Disease Association

Defects in BLM are the cause of Bloom syndrome (BLM) [MIM:210900]. BLM is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.

Predicted Transcript
     1 TCTTCAGGATGTGGGGTTTCCCTCCGAATGGTGGAATCCCCCTCTGCCAGGAACCCCTCC
    61 CTGGAACGCTTCAGGGGCTGCTCGTTCCCCCATTCCAATGAAATGATGAAAGTTTTCCAC
   121 AAACGTTTTGGTCTGCATCACTTCCGTACAAACCAGCAAGAGGCCATCAATGCCGCTCTG
   181 CTGGGTGAAGACTGTTTTGTCTTGATGCCGACAGGAGGTGGCAAGAGCTTATGCTACCAG
   241 CTGCCGGCCTGCATTTTGGTGGGAGTCACCATAGTAATTTCCCCCTTGCGGTCCCTGATC
   301 GTGGATCAAGTCCAGAAGCTGACGTCGATGGATATTCCTGCGACGTACCTGACAGGAGAT
   361 AAGACTGATGCAGAAGCCTCCAGGATCTACATGCAGCTCTCCAAGAAGGACCCCATTATC
   421 AAACTCCTCTACGTTACTCCGGAGAAGGTCTGCTCAAGCGGGCGGCTGATGTCAACGCTG
   481 GAGAATCTGTACCAGCGGCAACTCTTGGCCCGCTTTGTGATTGATGAAGCCCACTGCGTC
   541 AGCCAGTGGGGCCATGACTTCCGACAAGACTACAAGCGGCTTAATATGCTTCGCAAGAAA
   601 TTCGCCTCCGTCCCCATGATGGCTCTCACGGCCACTGCAAACCCCAGGGTGCAAAAGGAC
   661 ATCCTGAACCAGCTGGAGATGCTGAAGCCGCAGGTGTTTAGCATGAGCTTTAACAGACAC
   721 AATTTGAAGTATGATGTTTTACCCAAAAGGCCCAAAAGTGTTGCATTGGACTGCTTGCAA
   781 TGGATCAGAAAATATCATCCCTATGACTCCGGCATCATCTACTGCCTCTCGCGCTATGAA
   841 TGTGACTCTATGGCCAGCAACCTGCAGAAAGCTGGCCTGTCTGCACTCGCGTACCATGCC
   901 GGCCTCCCTGACGAAACCAGAGACATTGTGCAACAGAAGTGGATCAACCAGGATGGATGC
   961 CAGATCATATGTGCCACCATCGCTTTTGGTATGGGGATCGACAAGCCTGACGTGCGTTTC
  1021 GTGATCCACGCCTCCCTCCCCAAATCCATTGAGGGCTACTACCAGGAGTCAGGAAGAGCT
  1081 GGCCGTGACGGAGAGAGGTCCCACTGCCTGCTCTTCTACAGCTACAGCGACGTCACCCGC
  1141 TTGCGGCGCCTCATCCTGATGGAAAAGGACGGCAACAGCCACACGCGGCAGACGCACTTC
  1201 AACAACCTCTACAGCATGGTCCATTACTGTGAGAATGTGGTCGAGTGCCGGAGGATACAG
  1261 CTGCTGGCCTATTTTGGGGAAACGGGCTTTAATCCTAAATTCTGTAAGGAATACCCCGAA
  1321 GTCAGTTGCGACAACTGCTGTAAAGTGCAAGATTATAATATGAAGAATGTGACCGAGGAA
  1381 GTGAAAAGCATTGTTAGGTTTGTCCAGGAGCATTGTGGCGAAAAGGGAGCAAGAGGTGCA
  1441 AGAAGAAATGGAGGGAGATACACACTCAATATGATGATTGACATTTTCTTGGGTACCAAA
  1501 AGTGCCAAAATCCAGACTGGTATCTATGGCAAGGGAGCAGCCTACTCACGCCACAATGCG
  1561 GAGCGGCTCTTTCGGAAGCTGGTGTTGGATAAGATTTTGGACGAAGAGCTGTATATCACG
  1621 GCAAACGACCAAGCCGTGGCCTATGTACACACAGGAGAAAGAGCCCACGTGGTGCTCAGT
  1681 GGCTGCCTGCAGGTCGAGTTCTGCGAGACGGAAAGTGCCAGCAGCCTCCGGAAGCACAGG
  1741 GCTTCCGTCACCAAGATTTCCCAGCGGGAGGAGATGGCCAAGGAGTGCCTCTCGGAACTC
  1801 ACCGATGTCTGCAAAAACCTGGGCAAAGTGTTCAATGTCCACTACTTTAACATTTTTAAC
  1861 ACAGCCACACTGAAACGAATAGCAGAGACGTTGTCTTCGGACCCAGAAGTCTTGCTCCAG
  1921 ATTGATGGTGTCACGGAAGACAAGCTGGAAAAGTATGGAGCAGAAATCATTGCAGTGATG
  1981 CAAAAGTATTCTGACAAAACATTGCCA

Predicted Protein Product
SSGCGVSLRMVESPSARNPSLERFRGCSFPHSNEMMKVFHKRFGLHHFRTNQQEAINAAL
LGEDCFVLMPTGGGKSLCYQLPACILVGVTIVISPLRSLIVDQVQKLTSMDIPATYLTGD
KTDAEASRIYMQLSKKDPIIKLLYVTPEKVCSSGRLMSTLENLYQRQLLARFVIDEAHCV
SQWGHDFRQDYKRLNMLRKKFASVPMMALTATANPRVQKDILNQLEMLKPQVFSMSFNRH
NLKYDVLPKRPKSVALDCLQWIRKYHPYDSGIIYCLSRYECDSMASNLQKAGLSALAYHA
GLPDETRDIVQQKWINQDGCQIICATIAFGMGIDKPDVRFVIHASLPKSIEGYYQESGRA
GRDGERSHCLLFYSYSDVTRLRRLILMEKDGNSHTRQTHFNNLYSMVHYCENVVECRRIQ
LLAYFGETGFNPKFCKEYPEVSCDNCCKVQDYNMKNVTEEVKSIVRFVQEHCGEKGARGA
RRNGGRYTLNMMIDIFLGTKSAKIQTGIYGKGAAYSRHNAERLFRKLVLDKILDEELYIT
ANDQAVAYVHTGERAHVVLSGCLQVEFCETESASSLRKHRASVTKISQREEMAKECLSEL
TDVCKNLGKVFNVHYFNIFNTATLKRIAETLSSDPEVLLQIDGVTEDKLEKYGAEIIAVM
QKYSDKTLP
Protein Alignment to Mouse
sp|O88700|BLM_MOUSE Bloom syndrome protein homolog OS=Mus musculus GN=Blm PE=1
            SV=1
      MGI:1328362 Blm Bloom syndrome, RecQ helicase-like (Chr 7)
        Length = 1416

 Score = 2767 (979.1 bits), Expect = 9.2e-289, P = 9.2e-289
 Identities = 507/661 (76%), Positives = 588/661 (88%)

Query:     9 RMVESPSARNPSLERFRGCSFPHSNEMMKVFHKRFGLHHFRTNQQEAINAALLGEDCFVL 68
             ++ ++ S++NP  E F+  +FPH+ EMMK+FHK+FGLH+FRTNQ EAINAALLGEDCF+L
Sbjct:   637 KLAQNLSSKNPKHEHFQSLNFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLGEDCFIL 696

Query:    69 MPTGGGKSLCYQLPACILVGVTIVISPLRSLIVDQVQKLTSMDIPATYLTGDKTDAEASR 128
             MPTGGGKSLCYQLPAC+  GVTIVISPLRSLIVDQVQKLTS DIPATYLTGDKTD+EA+ 
Sbjct:   697 MPTGGGKSLCYQLPACVSPGVTIVISPLRSLIVDQVQKLTSFDIPATYLTGDKTDSEAAN 756

Query:   129 IYMQLSKKDPIIKLLYVTPEKVCSSGRLMSTLENLYQRQLLARFVIDEAHCVSQWGHDFR 188
             IY+QLSKKDPIIKLLYVTPEKVC+S RL+STLENLY+R+LLARFVIDEAHCVSQWGHDFR
Sbjct:   757 IYLQLSKKDPIIKLLYVTPEKVCASNRLISTLENLYERKLLARFVIDEAHCVSQWGHDFR 816

Query:   189 QDYKRLNMLRKKFASVPMMALTATANPRVQKDILNQLEMLKPQVFSMSFNRHNLKYDVLP 248
             QDYKR+NMLR+KF SVP+MALTATANPRVQKDIL QL++L+PQVFSMSFNRHNLKY VLP
Sbjct:   817 QDYKRMNMLRQKFPSVPVMALTATANPRVQKDILTQLKILRPQVFSMSFNRHNLKYYVLP 876

Query:   249 KRPKSVALDCLQWIRKYHPYDSGIIYCLSRYECDSMASNLQKAGLSALAYHAGLPDETRD 308
             K+PK VA DCL+WIRK+HPYDSGIIYCLSR ECD+MA  LQ+ GL+ALAYHAGL D  RD
Sbjct:   877 KKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRECDTMADTLQREGLAALAYHAGLSDSARD 936

Query:   309 IVQQKWINQDGCQIICATIAFGMGIDKPDVRFVIHASLPKSIEGYYQESGRAGRDGERSH 368
              VQ KWINQD CQ+ICATIAFGMGIDKPDVRFVIHASLPKS+EGYYQESGRAGRDGE SH
Sbjct:   937 EVQHKWINQDNCQVICATIAFGMGIDKPDVRFVIHASLPKSMEGYYQESGRAGRDGEISH 996

Query:   369 CLLFYSYSDVTRLRRLILMEKDGNSHTRQTHFNNLYSMVHYCENVVECRRIQLLAYFGET 428
             C+LFY+Y DVTRL+RLI+MEKDGN HT++TH NNLYSMVHYCEN+ ECRRIQLLAYFGE 
Sbjct:   997 CVLFYTYHDVTRLKRLIMMEKDGNYHTKETHVNNLYSMVHYCENITECRRIQLLAYFGEK 1056

Query:   429 GFNPKFCKEYPEVSCDNCCKVQDYNMKNVTEEVKSIVRFVQEHCGEKXXXXXXXXXXXYT 488
             GFNP FCK+YP+VSCDNCCK +DY  K+VT++VK+I+RFVQEH               +T
Sbjct:  1057 GFNPDFCKKYPDVSCDNCCKTKDYKTKDVTDDVKNIIRFVQEHSSSPGTRNIGPAGR-FT 1115

Query:   489 LNMMIDIFLGTKSAKIQTGIYGKGAAYSRHNAERLFRKLVLDKILDEELYITANDQAVAY 548
             LNM++DIFLG+KSAK+++GI+GKG  YSRHNAERLF+KL+LDKILDE+LYI ANDQ +AY
Sbjct:  1116 LNMLVDIFLGSKSAKVKSGIFGKGTTYSRHNAERLFKKLILDKILDEDLYINANDQPIAY 1175

Query:   549 VHTGERAHVVLSGCLQVEFCETESASSLRKHRASVTKISQREEMAKECLSELTDVCKNLG 608
             V  G +AH VLSG L+V+F ETE++SS++K +A V K+SQREE+ K+CL ELT+VCK LG
Sbjct:  1176 VMLGTKAHSVLSGHLKVDFMETENSSSIKKQKALVAKVSQREEVVKKCLGELTEVCKLLG 1235

Query:   609 KVFNVHYFNIFNTATLKRIAETLSSDPEVLLQIDGVTEDKLEKYGAEIIAVMQKYSDKTL 668
             KVF VHYFNIFNTATLK++AE+LSSDPEVLLQIDGVTEDKLEKYGAE+I V+QKYS+ T+
Sbjct:  1236 KVFGVHYFNIFNTATLKKLAESLSSDPEVLLQIDGVTEDKLEKYGAEVIPVLQKYSEWTV 1295

Query:   669 P 669
             P
Sbjct:  1296 P 1296