| Identification |
| HMDB Protein ID
| CDBP03915 |
| Secondary Accession Numbers
| Not Available |
| Name
| Bloom syndrome protein |
| Description
| Not Available |
| Synonyms
|
- DNA helicase, RecQ-like type 2
- RecQ protein-like 3
- RecQ2
|
| Gene Name
| BLM |
| Protein Type
| Transcription Factor |
| 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.
|
| GO Classification
|
| Biological Process |
| 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 |
| alpha-beta T cell differentiation |
| positive regulation of transcription, DNA-dependent |
| 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 |
| Cellular Component |
| pronucleus |
| replication fork |
| cytoplasm |
| nucleolus |
| lateral element |
| male germ cell nucleus |
| nuclear matrix |
| PML body |
| Component |
| cell part |
| organelle |
| membrane-bounded organelle |
| intracellular membrane-bounded organelle |
| nucleus |
| intracellular |
| Function |
| 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 |
| binding |
| nucleoside-triphosphatase activity |
| nucleotide binding |
| helicase activity |
| catalytic activity |
| hydrolase activity, acting on acid anhydrides |
| hydrolase activity |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
| nucleoside binding |
| pyrophosphatase activity |
| purine nucleoside binding |
| adenyl nucleotide binding |
| adenyl ribonucleotide binding |
| Molecular Function |
| annealing helicase activity |
| ATP-dependent DNA helicase activity |
| bubble DNA binding |
| four-way junction helicase activity |
| ATP-dependent 3'-5' DNA helicase activity |
| G-quadruplex DNA binding |
| ATP 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
|
- Nucleus
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Homologous recombination | Not Available |  | | Fanconi anemia pathway | Not Available |  |
|
| 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
|
| External Links |
| 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
| Not Available |