Homo sapiens (human): 641 Help Entry 641               CDS       T01001                                  Symbol BLM, BS, MGRISCE1, RECQ2, RECQL2, RECQL3 Name (RefSeq) BLM RecQ like helicase   KO K10901   bloom syndrome protein [EC:5.6.2.4] Organism hsa  Homo sapiens (human) Pathway hsa03440   Homologous recombination hsa03460   Fanconi anemia pathway Network nt06506  Double-strand break repair   Element N01446   DNA end resection and RPA loading N01447   Double Holliday junction dissolution N01449   Synthesis-dependent strand annealing Disease H00094   Immunodeficiency associated with DNA repair defects H00296   Defects in RecQ helicases H01346   Bloom syndrome H02492   Microcephaly, growth restriction, and increased sister chromatid exchange Brite KEGG Orthology (KO) [BR:hsa00001]  09120 Genetic Information Processing   09124 Replication and repair    03440 Homologous recombination     641 (BLM)    03460 Fanconi anemia pathway     641 (BLM)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03032 DNA replication proteins [BR:hsa03032]     641 (BLM)    03400 DNA repair and recombination proteins [BR:hsa03400]     641 (BLM) Enzymes [BR:hsa01000]  5. Isomerases   5.6  Isomerases altering macromolecular conformation    5.6.2  Enzymes altering nucleic acid conformation     5.6.2.4  DNA 3'-5' helicase      641 (BLM) DNA replication proteins [BR:hsa03032]  Eukaryotic type   DNA Replication Termination Factors    Other termination factors     641 (BLM) DNA repair and recombination proteins [BR:hsa03400]  Eukaryotic type   DSBR (double strand breaks repair)    HR (homologous recombination)     RecQ family DNA helicases      641 (BLM)     Bloom's syndrome complex (BTR)      641 (BLM)    FA (Fanconi anemia) pathway      641 (BLM) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  BLM_N BDHCT_assoc DEAD BDHCT Helicase_C RecQ_Zn_bind RQC HRDC ALMT Motif Other DBs NCBI-GeneID:  641 NCBI-ProteinID:  NP_000048 OMIM:  604610 HGNC:  1058 Ensembl:  ENSG00000197299 UniProt:  P54132 Structure PDB LinkDB All DBs Position 15:90717346..90816166 Genome browser AA seq 1417 aa AA seqDB search MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVL RNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVC TTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRV STAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDD GPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDF VPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTD CDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFS ATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASI NDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFH KKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLI VDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTL ENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRE CDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRF VIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHF NNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDD VKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRH NAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSS SASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS NT seq 4254 nt NT seq  +upstreamnt  +downstreamnt atggctgctgttcctcaaaataatctacaggagcaactagaacgtcactcagccagaaca cttaataataaattaagtctttcaaaaccaaaattttcaggtttcacttttaaaaagaaa acatcttcagataacaatgtatctgtaactaatgtgtcagtagcaaaaacacctgtatta agaaataaagatgttaatgttaccgaagacttttccttcagtgaacctctacccaacacc acaaatcagcaaagggtcaaggacttctttaaaaatgctccagcaggacaggaaacacag agaggtggatcaaaatcattattgccagatttcttgcagactccgaaggaagttgtatgc actacccaaaacacaccaactgtaaagaaatcccgggatactgctctcaagaaattagaa tttagttcttcaccagattctttaagtaccatcaatgattgggatgatatggatgacttt gatacttctgagacttcaaaatcatttgttacaccaccccaaagtcactttgtaagagta agcactgctcagaaatcaaaaaagggtaagagaaacttttttaaagcacagctttataca acaaacacagtaaagactgatttgcctccaccctcctctgaaagcgagcaaatagatttg actgaggaacagaaggatgactcagaatggttaagcagcgatgtgatttgcatcgatgat ggccccattgctgaagtgcatataaatgaagatgctcaggaaagtgactctctgaaaact catttggaagatgaaagagataatagcgaaaagaagaagaatttggaagaagctgaatta cattcaactgagaaagttccatgtattgaatttgatgatgatgattatgatacggatttt gttccaccttctccagaagaaattatttctgcttcttcttcctcttcaaaatgccttagt acgttaaaggaccttgacacctctgacagaaaagaggatgttcttagcacatcaaaagat cttttgtcaaaacctgagaaaatgagtatgcaggagctgaatccagaaaccagcacagac tgtgacgctagacagataagtttacagcagcagcttattcatgtgatggagcacatctgt aaattaattgatactattcctgatgataaactgaaacttttggattgtgggaacgaactg cttcagcagcggaacataagaaggaaacttctaacggaagtagattttaataaaagtgat gccagtcttcttggctcattgtggagatacaggcctgattcacttgatggccctatggag ggtgattcctgccctacagggaattctatgaaggagttaaatttttcacaccttccctca aattctgtttctcctggggactgtttactgactaccaccctaggaaagacaggattctct gccaccaggaagaatctttttgaaaggcctttattcaatacccatttacagaagtccttt gtaagtagcaactgggctgaaacaccaagactaggaaaaaaaaatgaaagctcttatttc ccaggaaatgttctcacaagcactgctgtgaaagatcagaataaacatactgcttcaata aatgacttagaaagagaaacccaaccttcctatgatattgataattttgacatagatgac tttgatgatgatgatgactgggaagacataatgcataatttagcagccagcaaatcttcc acagctgcctatcaacccatcaaggaaggtcggccaattaaatcagtatcagaaagactt tcctcagccaagacagactgtcttccagtgtcatctactgctcaaaatataaacttctca gagtcaattcagaattatactgacaagtcagcacaaaatttagcatccagaaatctgaaa catgagcgtttccaaagtcttagttttcctcatacaaaggaaatgatgaagatttttcat aaaaaatttggcctgcataattttagaactaatcagctagaggcgatcaatgctgcactg cttggtgaagactgttttatcctgatgccgactggaggtggtaagagtttgtgttaccag ctccctgcctgtgtttctcctggggtcactgttgtcatttctcccttgagatcacttatc gtagatcaagtccaaaagctgacttccttggatattccagctacatatctgacaggtgat aagactgactcagaagctacaaatatttacctccagttatcaaaaaaagacccaatcata aaacttctatatgtcactccagaaaagatctgtgcaagtaacagactcatttctactctg gagaatctctatgagaggaagctcttggcacgttttgttattgatgaagcacattgtgtc agtcagtggggacatgattttcgtcaagattacaaaagaatgaatatgcttcgccagaag tttccttctgttccggtgatggctcttacggccacagctaatcccagggtacagaaggac atcctgactcagctgaagattctcagacctcaggtgtttagcatgagctttaacagacat aatctgaaatactatgtattaccgaaaaagcctaaaaaggtggcatttgattgcctagaa tggatcagaaagcaccacccatatgattcagggataatttactgcctctccaggcgagaa tgtgacaccatggctgacacgttacagagagatgggctcgctgctcttgcttaccatgct ggcctcagtgattctgccagagatgaagtgcagcagaagtggattaatcaggatggctgt caggttatctgtgctacaattgcatttggaatggggattgacaaaccggacgtgcgattt gtgattcatgcatctctccctaaatctgtggagggttactaccaagaatctggcagagct ggaagagatggggaaatatctcactgcctgcttttctatacctatcatgatgtgaccaga ctgaaaagacttataatgatggaaaaagatggaaaccatcatacaagagaaactcacttc aataatttgtatagcatggtacattactgtgaaaatataacggaatgcaggagaatacag cttttggcctactttggtgaaaatggatttaatcctgatttttgtaagaaacacccagat gtttcttgtgataattgctgtaaaacaaaggattataaaacaagagatgtgactgacgat gtgaaaagtattgtaagatttgttcaagaacatagttcatcacaaggaatgagaaatata aaacatgtaggtccttctggaagatttactatgaatatgctggtcgacattttcttgggg agtaagagtgcaaaaatccagtcaggtatatttggaaaaggatctgcttattcacgacac aatgccgaaagactttttaaaaagctgatacttgacaagattttggatgaagacttatat atcaatgccaatgaccaggcgatcgcttatgtgatgctcggaaataaagcccaaactgta ctaaatggcaatttaaaggtagactttatggaaacagaaaattccagcagtgtgaaaaaa caaaaagcgttagtagcaaaagtgtctcagagggaagagatggttaaaaaatgtcttgga gaacttacagaagtctgcaaatctctggggaaagtttttggtgtccattacttcaatatt tttaataccgtcactctcaagaagcttgcagaatctttatcttctgatcctgaggttttg cttcaaattgatggtgttactgaagacaaactggaaaaatatggtgcggaagtgatttca gtattacagaaatactctgaatggacatcgccagctgaagacagttccccagggataagc ctgtccagcagcagaggccccggaagaagtgccgctgaggagctcgacgaggaaataccc gtatcttcccactactttgcaagtaaaaccagaaatgaaaggaagaggaaaaagatgcca gcctcccaaaggtctaagaggagaaaaactgcttccagtggttccaaggcaaaggggggg tctgccacatgtagaaagatatcttccaaaacgaaatcctccagcatcattggatccagt tcagcctcacatacttctcaagcgacatcaggagccaatagcaaattggggattatggct ccaccgaagcctataaatagaccgtttcttaagccttcatatgcattctcataa

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