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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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Gene ID | 641 |
Name | BLM |
Synonym | BS|RECQ2|RECQL2|RECQL3;Bloom syndrome, RecQ helicase-like;BLM;Bloom syndrome, RecQ helicase-like |
Definition | Bloom syndrome protein|DNA helicase, RecQ-like type 2|recQ protein-like 3 |
Position | 15q26.1 |
Gene Type | protein-coding |
Source | Count: 2; TAG,Generif |
Literature support | Count: 2 PubMed records as below. |
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Evidence Status |
Description |
potential | "Hence BLM seems to be a protein involved in multiple functions - all of which may together contribute to its reported role as a ""caretaker tumor suppressor"". ". |
potential | "Thus, both large scale and small scale genetic alterations are elevated when BLM is reduced, which may contribute to loss of function of tumor suppressor genes and subsequent tumorigenesis." |
| More detail of all 2 literatures about BLM | |
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Pathways and Diseases |
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Pathway | Homologous recombination;KEGG PATHWAY;hsa03440 |
Pathway | Regulation of Telomerase;PID Curated;200072 |
Disease | Endocrine system disease;FunDO |
Disease | Colon cancer;FunDO |
Disease | Embryoma;FunDO |
Disease | HIV infection;FunDO |
Disease | Bloom's syndrome;GAD |
Disease | Fanconi's anemia;FunDO |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Stomach cancer;FunDO |
Disease | Inherited disorders of DNA repair systems;KEGG DISEASE |
Disease | Immune system diseases;KEGG DISEASE |
Disease | Lung cancer;FunDO |
Disease | DNA repair defect;KEGG DISEASE;H00094 |
Disease | Leukemia;FunDO |
Disease | Defects in RecQ helicases;KEGG DISEASE;H00296 |
Disease | Primary immunodeficiency;KEGG DISEASE |
Disease | Leukoencephalopathy;FunDO |
Disease | Bloom syndrome;OMIM |
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External Links |
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Links to Entrez Gene | 641 |
Links to all GeneRIF Items | 641 |
Links to iHOP | 641 |
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Sequence Information |
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Nucleotide Sequence |
>641 : length: 4254 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 |
Protein Sequence |
>641 : length: 1417 MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVL RNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVC TTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRV STAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDD GPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDF VPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTD CDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFS ATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASI NDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFH KKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLI VDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTL ENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRE CDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRF VIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHF NNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDD VKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRH NAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSS SASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS |