| Gene ID | 641 |
| Symbol | BLM |
| Synonymous | BS|RECQ2|RECQL2|RECQL3 |
| Full name | Bloom syndrome, RecQ helicase-like |
| Gene description | Bloom syndrome protein|DNA helicase, RecQ-like type 2|recQ protein-like 3 |
| Cytoband | 15q26.1 |
| Gene type | protein-coding |
| Synonymous | MIM:604610; HGNC:HGNC:1058; Ensembl:ENSG00000197299; HPRD:05211; Vega:OTTHUMG00000149834 |
Pathways and Diseases | Detail |
|---|---|
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 |
Sequence Information | |
|---|---|
Nucleotide Sequence | >641 : length: 4721 AATCGGAATAGGCAAGCTTCCGGCGGGAAGTGAGCCAGGGCTTGGCGCGGCGGCCGTGGTTGCGGCGCGGGAAGTTTGGATCCTGGTTCCGTCCGCTAGGAGTCTGCGTGCGAGGATTAT GGCTGCTGTTCCTCAAAATAATCTACAGGAGCAACTAGAACGTCACTCAGCCAGAACACTTAATAATAAATTAAGTCTTTCAAAACCAAAATTTTCAGGTTTCACTTTTAAAAAGAAAAC ATCTTCAGATAACAATGTATCTGTAACTAATGTGTCAGTAGCAAAAACACCTGTATTAAGAAATAAAGATGTTAATGTTACCGAAGACTTTTCCTTCAGTGAACCTCTACCCAACACCAC AAATCAGCAAAGGGTCAAGGACTTCTTTAAAAATGCTCCAGCAGGACAGGAAACACAGAGAGGTGGATCAAAATCATTATTGCCAGATTTCTTGCAGACTCCGAAGGAAGTTGTATGCAC TACCCAAAACACACCAACTGTAAAGAAATCCCGGGATACTGCTCTCAAGAAATTAGAATTTAGTTCTTCACCAGATTCTTTAAGTACCATCAATGATTGGGATGATATGGATGACTTTGA TACTTCTGAGACTTCAAAATCATTTGTTACACCACCCCAAAGTCACTTTGTAAGAGTAAGCACTGCTCAGAAATCAAAAAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAAC AAACACAGTAAAGACTGATTTGCCTCCACCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCGATGTGATTTGCATCGATGATGG CCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTCTCTGAAAACTCATTTGGAAGATGAAAGAGATAATAGCGAAAAGAAGAAGAATTTGGAAGAAGCTGAATTACA TTCAACTGAGAAAGTTCCATGTATTGAATTTGATGATGATGATTATGATACGGATTTTGTTCCACCTTCTCCAGAAGAAATTATTTCTGCTTCTTCTTCCTCTTCAAAATGCCTTAGTAC GTTAAAGGACCTTGACACCTCTGACAGAAAAGAGGATGTTCTTAGCACATCAAAAGATCTTTTGTCAAAACCTGAGAAAATGAGTATGCAGGAGCTGAATCCAGAAACCAGCACAGACTG TGACGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGACTTAAGCAATCCTCCTGCCTTGGCCTCCCCAAAGGGCTGGGATTACAGTCATGAGCCACCATGCCTAGCCAAGAC TTTTTTTTTTTTCCCTCAAAGAAAAATATTAACAACATAATTATTTTATAGCTAGACAGATAAGTTTACAGCAGCAGCTTATTCATGTGATGGAGCACATCTGTAAATTAATTGATACTA TTCCTGATGATAAACTGAAACTTTTGGATTGTGGGAACGAACTGCTTCAGCAGCGGAACATAAGAAGGAAACTTCTAACGGAAGTAGATTTTAATAAAAGTGATGCCAGTCTTCTTGGCT CATTGTGGAGATACAGGCCTGATTCACTTGATGGCCCTATGGAGGGTGATTCCTGCCCTACAGGGAATTCTATGAAGGAGTTAAATTTTTCACACCTTCCCTCAAATTCTGTTTCTCCTG GGGACTGTTTACTGACTACCACCCTAGGAAAGACAGGATTCTCTGCCACCAGGAAGAATCTTTTTGAAAGGCCTTTATTCAATACCCATTTACAGAAGTCCTTTGTAAGTAGCAACTGGG CTGAAACACCAAGACTAGGAAAAAAAAATGAAAGCTCTTATTTCCCAGGAAATGTTCTCACAAGCACTGCTGTGAAAGATCAGAATAAACATACTGCTTCAATAAATGACTTAGAAAGAG AAACCCAACCTTCCTATGATATTGATAATTTTGACATAGATGACTTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCTATCAAC CCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTGTCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATT ATACTGACAAGTCAGCACAAAATTTAGCATCCAGAAATCTGAAACATGAGCGTTTCCAAAGTCTTAGTTTTCCTCATACAAAGGAAATGATGAAGATTTTTCATAAAAAATTTGGCCTGC ATAATTTTAGAACTAATCAGCTAGAGGCGATCAATGCTGCACTGCTTGGTGAAGACTGTTTTATCCTGATGCCGACTGGAGGTGGTAAGAGTTTGTGTTACCAGCTCCCTGCCTGTGTTT CTCCTGGGGTCACTGTTGTCATTTCTCCCTTGAGATCACTTATCGTAGATCAAGTCCAAAAGCTGACTTCCTTGGATATTCCAGCTACATATCTGACAGGTGATAAGACTGACTCAGAAG CTACAAATATTTACCTCCAGTTATCAAAAAAAGACCCAATCATAAAACTTCTATATGTCACTCCAGAAAAGATCTGTGCAAGTAACAGACTCATTTCTACTCTGGAGAATCTCTATGAGA GGAAGCTCTTGGCACGTTTTGTTATTGATGAAGCACATTGTGTCAGTCAGTGGGGACATGATTTTCGTCAAGATTACAAAAGAATGAATATGCTTCGCCAGAAGTTTCCTTCTGTTCCGG TGATGGCTCTTACGGCCACAGCTAATCCCAGGGTACAGAAGGACATCCTGACTCAGCTGAAGATTCTCAGACCTCAGGTGTTTAGCATGAGCTTTAACAGACATAATCTGAAATACTATG TATTACCGAAAAAGCCTAAAAAGGTGGCATTTGATTGCCTAGAATGGATCAGAAAGCACCACCCATATGATTCAGGGATAATTTACTGCCTCTCCAGGCGAGAATGTGACACCATGGCTG ACACGTTACAGAGAGATGGGCTCGCTGCTCTTGCTTACCATGCTGGCCTCAGTGATTCTGCCAGAGATGAAGTGCAGCAGAAGTGGATTAATCAGGATGGCTGTCAGGTTATCTGTGCTA CAATTGCATTTGGAATGGGGATTGACAAACCGGACGTGCGATTTGTGATTCATGCATCTCTCCCTAAATCTGTGGAGGGTTACTACCAAGAATCTGGCAGAGCTGGAAGAGATGGGGAAA TATCTCACTGCCTGCTTTTCTATACCTATCATGATGTGACCAGACTGAAAAGACTTATAATGATGGAAAAAGATGGAAACCATCATACAAGAGAAACTCACTTCAATAATTTGTATAGCA TGGTACATTACTGTGAAAATATAACGGAATGCAGGAGAATACAGCTTTTGGCCTACTTTGGTGAAAATGGATTTAATCCTGATTTTTGTAAGAAACACCCAGATGTTTCTTGTGATAATT GCTGTAAAACAAAGGATTATAAAACAAGAGATGTGACTGACGATGTGAAAAGTATTGTAAGATTTGTTCAAGAACATAGTTCATCACAAGGAATGAGAAATATAAAACATGTAGGTCCTT CTGGAAGATTTACTATGAATATGCTGGTCGACATTTTCTTGGGGAGTAAGAGTGCAAAAATCCAGTCAGGTATATTTGGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGACTTT TTAAAAAGCTGATACTTGACAAGATTTTGGATGAAGACTTATATATCAATGCCAATGACCAGGCGATCGCTTATGTGATGCTCGGAAATAAAGCCCAAACTGTACTAAATGGCAATTTAA AGGTAGACTTTATGGAAACAGAAAATTCCAGCAGTGTGAAAAAACAAAAAGCGTTAGTAGCAAAAGTGTCTCAGAGGGAAGAGATGGTTAAAAAATGTCTTGGAGAACTTACAGAAGTCT GCAAATCTCTGGGGAAAGTTTTTGGTGTCCATTACTTCAATATTTTTAATACCGTCACTCTCAAGAAGCTTGCAGAATCTTTATCTTCTGATCCTGAGGTTTTGCTTCAAATTGATGGTG TTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGCTGAAGACAGTTCCCCAGGGATAAGCCTGTCCAGCAGCAGAG GCCCCGGAAGAAGTGCCGCTGAGGAGCTCGACGAGGAAATACCCGTATCTTCCCACTACTTTGCAAGTAAAACCAGAAATGAAAGGAAGAGGAAAAAGATGCCAGCCTCCCAAAGGTCTA AGAGGAGAAAAACTGCTTCCAGTGGTTCCAAGGCAAAGGGGGGGTCTGCCACATGTAGAAAGATATCTTCCAAAACGAAATCCTCCAGCATCATTGGATCCAGTTCAGCCTCACATACTT CTCAAGCGACATCAGGAGCCAATAGCAAATTGGGGATTATGGCTCCACCGAAGCCTATAAATAGACCGTTTCTTAAGCCTTCATATGCATTCTCATAACAACCGAATCTCAATGTACATA GACCCTCTTTCTTGTTTGTCAGCATCTGACCATCTGTGACTATAAAGCTGTTATTCTTGTTATACCATTTGAAGTTTTTACTCGTCTCTATTAATATTTAAATAAATGCTGGGGGGTGAT AGTTCTTCTTTTTAAAATAAACATTTTCTTTTGAATAAGCA |
Protein Sequence | >641 : length: 1417 MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVLRNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVC TTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRVSTAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDD GPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDFVPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTD CDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSDASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFS ATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASINDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLI VDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTLENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRECDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRF VIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHFNNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDD VKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRHNAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVLLQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSSSASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS |