Hmdb loader

Showing Protein Bloom syndrome protein (HMDBP08705)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 5 metabolites
Identification
HMDB Protein ID HMDBP08705
Secondary Accession Numbers
  • 14427
Name Bloom syndrome protein
Synonyms
  1. DNA helicase, RecQ-like type 2
  2. RecQ protein-like 3
  3. RecQ2
Gene Name BLM
Protein Type Unknown
Biological Properties
General Function Involved in DNA binding
Specific 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. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA.
Pathways
  • Fanconi anemia pathway
  • Homologous recombination
Reactions
Adenosine triphosphate + Water → ADP + Phosphate details
GO Classification
Biological Process
alpha-beta T cell differentiation
DNA double-strand break processing
double-strand break repair via homologous recombination
G2 phase of mitotic cell cycle
G2/M transition DNA damage checkpoint
negative regulation of cell division
negative regulation of DNA recombination
negative regulation of mitotic recombination
positive regulation of alpha-beta T cell proliferation
protein oligomerization
regulation of binding
regulation of cyclin-dependent protein kinase activity
replication fork processing
replication fork protection
response to X-ray
telomere maintenance
positive regulation of transcription, DNA-dependent
Cellular Component
cytoplasm
nucleolus
lateral element
male germ cell nucleus
nuclear matrix
PML body
pronucleus
replication fork
Component
cell part
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
nucleus
intracellular
Function
binding
nucleotide binding
catalytic activity
hydrolase activity
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
atp-dependent helicase activity
dna helicase activity
atp-dependent dna helicase activity
atpase activity
atpase activity, coupled
nucleic acid binding
dna binding
atp-dependent 3'-5' dna helicase activity
nucleoside-triphosphatase activity
helicase activity
hydrolase activity, acting on acid anhydrides
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
pyrophosphatase activity
Molecular Function
ATP-dependent 3'-5' DNA helicase activity
ATP binding
annealing helicase activity
ATP-dependent DNA helicase activity
bubble DNA binding
four-way junction helicase activity
G-quadruplex DNA binding
single-stranded DNA binding
Process
metabolic process
macromolecule metabolic process
cellular macromolecule metabolic process
dna metabolic process
dna replication
dna recombination
dna repair
cellular metabolic process
Cellular Location
  1. Nucleus
Gene Properties
Chromosome Location 15
Locus 15q26.1
SNPs BLM
Gene Sequence 
>4254 bp
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 Properties
Number of Residues 1417
Molecular Weight 158998.92
Theoretical pI 7.491
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence 
>Bloom syndrome protein
MAAVPQNNLQEQLERHSARTLNNKLSLSKPKFSGFTFKKKTSSDNNVSVTNVSVAKTPVL
RNKDVNVTEDFSFSEPLPNTTNQQRVKDFFKNAPAGQETQRGGSKSLLPDFLQTPKEVVC
TTQNTPTVKKSRDTALKKLEFSSSPDSLSTINDWDDMDDFDTSETSKSFVTPPQSHFVRV
STAQKSKKGKRNFFKAQLYTTNTVKTDLPPPSSESEQIDLTEEQKDDSEWLSSDVICIDD
GPIAEVHINEDAQESDSLKTHLEDERDNSEKKKNLEEAELHSTEKVPCIEFDDDDYDTDF
VPPSPEEIISASSSSSKCLSTLKDLDTSDRKEDVLSTSKDLLSKPEKMSMQELNPETSTD
CDARQISLQQQLIHVMEHICKLIDTIPDDKLKLLDCGNELLQQRNIRRKLLTEVDFNKSD
ASLLGSLWRYRPDSLDGPMEGDSCPTGNSMKELNFSHLPSNSVSPGDCLLTTTLGKTGFS
ATRKNLFERPLFNTHLQKSFVSSNWAETPRLGKKNESSYFPGNVLTSTAVKDQNKHTASI
NDLERETQPSYDIDNFDIDDFDDDDDWEDIMHNLAASKSSTAAYQPIKEGRPIKSVSERL
SSAKTDCLPVSSTAQNINFSESIQNYTDKSAQNLASRNLKHERFQSLSFPHTKEMMKIFH
KKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLI
VDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTL
ENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKD
ILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRE
CDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRF
VIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHF
NNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDD
VKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRH
NAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKK
QKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVL
LQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPGISLSSSRGPGRSAAEELDEEIP
VSSHYFASKTRNERKRKKMPASQRSKRRKTASSGSKAKGGSATCRKISSKTKSSSIIGSS
SASHTSQATSGANSKLGIMAPPKPINRPFLKPSYAFS
GenBank ID Protein 58003498
UniProtKB/Swiss-Prot ID P54132
UniProtKB/Swiss-Prot Entry Name BLM_HUMAN
PDB IDs
GenBank Gene ID AY886902
GeneCard ID BLM
GenAtlas ID BLM
HGNC ID HGNC:1058
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [PubMed:19608861 ]
  3. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648 ]
  4. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. [PubMed:19690332 ]
  5. Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP: Large-scale characterization of HeLa cell nuclear phosphoproteins. Proc Natl Acad Sci U S A. 2004 Aug 17;101(33):12130-5. Epub 2004 Aug 9. [PubMed:15302935 ]
  6. Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD: Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra. J Proteome Res. 2007 Nov;6(11):4150-62. Epub 2007 Oct 9. [PubMed:17924679 ]
  7. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309. [PubMed:19413330 ]
  8. Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP: A probability-based approach for high-throughput protein phosphorylation analysis and site localization. Nat Biotechnol. 2006 Oct;24(10):1285-92. Epub 2006 Sep 10. [PubMed:16964243 ]
  9. Wang B, Malik R, Nigg EA, Korner R: Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis. Anal Chem. 2008 Dec 15;80(24):9526-33. doi: 10.1021/ac801708p. [PubMed:19007248 ]
  10. Nousiainen M, Sillje HH, Sauer G, Nigg EA, Korner R: Phosphoproteome analysis of the human mitotic spindle. Proc Natl Acad Sci U S A. 2006 Apr 4;103(14):5391-6. Epub 2006 Mar 24. [PubMed:16565220 ]
  11. Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 2000 Apr 15;14(8):927-39. [PubMed:10783165 ]
  12. Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J: The Bloom's syndrome gene product is homologous to RecQ helicases. Cell. 1995 Nov 17;83(4):655-66. [PubMed:7585968 ]
  13. Karow JK, Chakraverty RK, Hickson ID: The Bloom's syndrome gene product is a 3'-5' DNA helicase. J Biol Chem. 1997 Dec 5;272(49):30611-4. [PubMed:9388193 ]
  14. Kaneko H, Orii KO, Matsui E, Shimozawa N, Fukao T, Matsumoto T, Shimamoto A, Furuichi Y, Hayakawa S, Kasahara K, Kondo N: BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. Biochem Biophys Res Commun. 1997 Nov 17;240(2):348-53. [PubMed:9388480 ]
  15. Pichierri P, Franchitto A, Rosselli F: BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks. EMBO J. 2004 Aug 4;23(15):3154-63. Epub 2004 Jul 15. [PubMed:15257300 ]
  16. Langland G, Elliott J, Li Y, Creaney J, Dixon K, Groden J: The BLM helicase is necessary for normal DNA double-strand break repair. Cancer Res. 2002 May 15;62(10):2766-70. [PubMed:12019152 ]
  17. Yin J, Sobeck A, Xu C, Meetei AR, Hoatlin M, Li L, Wang W: BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity. EMBO J. 2005 Apr 6;24(7):1465-76. Epub 2005 Mar 17. [PubMed:15775963 ]
  18. Raynard S, Bussen W, Sung P: A double Holliday junction dissolvasome comprising BLM, topoisomerase IIIalpha, and BLAP75. J Biol Chem. 2006 May 19;281(20):13861-4. Epub 2006 Apr 4. [PubMed:16595695 ]
  19. Xu D, Guo R, Sobeck A, Bachrati CZ, Yang J, Enomoto T, Brown GW, Hoatlin ME, Hickson ID, Wang W: RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. Genes Dev. 2008 Oct 15;22(20):2843-55. doi: 10.1101/gad.1708608. [PubMed:18923082 ]
  20. Singh TR, Ali AM, Busygina V, Raynard S, Fan Q, Du CH, Andreassen PR, Sung P, Meetei AR: BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome. Genes Dev. 2008 Oct 15;22(20):2856-68. doi: 10.1101/gad.1725108. [PubMed:18923083 ]
  21. Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Gueret M: Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. Hum Mol Genet. 1997 Sep;6(9):1427-34. [PubMed:9285778 ]
  22. Barakat A, Ababou M, Onclercq R, Dutertre S, Chadli E, Hda N, Benslimane A, Amor-Gueret M: Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome. Hum Mutat. 2000 Jun;15(6):584-5. [PubMed:10862105 ]