Identification
HMDB Protein ID CDBP03915
Secondary Accession Numbers Not Available
Name Bloom syndrome protein
Description Not Available
Synonyms
  1. DNA helicase, RecQ-like type 2
  2. RecQ protein-like 3
  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
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
alpha-beta T cell differentiation
positive regulation of transcription, DNA-dependent
DNA double-strand break processing
Cellular Component
nucleolus
lateral element
male germ cell nucleus
nuclear matrix
PML body
pronucleus
replication fork
cytoplasm
Component
cell part
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
nucleus
intracellular
Function
hydrolase activity
hydrolase activity, acting on acid anhydrides
nucleoside binding
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
pyrophosphatase activity
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
binding
atp-dependent 3'-5' dna helicase activity
nucleotide binding
nucleoside-triphosphatase activity
catalytic activity
helicase activity
Molecular Function
annealing helicase activity
ATP-dependent 3'-5' DNA helicase activity
ATP-dependent DNA helicase activity
ATP binding
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
Pathways
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 Not Available