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HUMAN:BLM

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Contents

Species (Taxon ID) Homo sapiens (Human). (taxon:9606)
Gene Name(s) BLM ( synonyms: RECQ2, RECQL3 )
Protein Name(s)
  • Bloom syndrome protein
  • DNA helicase, RecQ-like type 2
  • RecQ2
  • RecQ protein-like 3
External Links
UniProt Identifier BLM_HUMAN
UniProt Accessions P54132, Q52M96,
EMBL U39817, AY886902, BC093622, BC101567, BC115030, BC115032,
PIR A57570,
RefSeq NP_000048.1,
PDB 2KV2, 2RRD,
IntAct P54132,
Ensembl ENST00000355112,
Pfam PF08072, PF00270, PF00271, PF00570, PF09382,

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0005737

cytoplasm

IDA: Inferred from Direct Assay

C

Source: HPA

GO:0000800

lateral element

IDA: Inferred from Direct Assay

C

Source: UniProtKB

GO:0016363

nuclear matrix

IDA: Inferred from Direct Assay

C

Source: UniProtKB

GO:0005730

nucleolus

IDA: Inferred from Direct Assay

C

Source: UniProtKB

GO:0016605

PML body

IDA: Inferred from Direct Assay

C

Source: UniProtKB

GO:0005524

ATP binding

IDA: Inferred from Direct Assay

F

Source: UniProtKB

GO:0000405

bubble DNA binding

IDA: Inferred from Direct Assay

F

Source: UniProtKB

GO:0000739

DNA strand annealing activity

IDA: Inferred from Direct Assay

F

Source: UniProtKB

GO:0009378

four-way junction helicase activity

IDA: Inferred from Direct Assay

F

Source: UniProtKB

GO:0051880

G-quadruplex DNA binding

IDA: Inferred from Direct Assay

F

Source: UniProtKB

GO:0002039

p53 binding

IPI: Inferred from Physical Interaction

F

Source: UniProtKB

GO:0000724

double-strand break repair via homologous r...

NAS: Non-traceable Author Statement

P

Source: UniProtKB

GO:0000085

G2 phase of mitotic cell cycle

NAS: Non-traceable Author Statement

P

Source: UniProtKB

GO:0031572

G2/M transition DNA damage checkpoint

NAS: Non-traceable Author Statement

P

Source: UniProtKB

GO:0051782

negative regulation of cell division

IMP: Inferred from Mutant Phenotype

P

Source: UniProtKB

GO:0045941

positive regulation of transcription

IDA: Inferred from Direct Assay

P

Source: UniProtKB

GO:0051259

protein oligomerization

IDA: Inferred from Direct Assay

P

Source: UniProtKB

GO:0000079

regulation of cyclin-dependent protein kina...

IMP: Inferred from Mutant Phenotype

P

Source: UniProtKB

GO:0031297

replication fork processing

IDA: Inferred from Direct Assay

P

Source: UniProtKB

GO:0048478

replication fork protection

NAS: Non-traceable Author Statement

P

Source: UniProtKB

GO:0010165

response to X-ray

IDA: Inferred from Direct Assay

P

Source: UniProtKB

GO:0000079

regulation of cyclin-dependent protein kinase activity

PMID:15604258[1]

IMP: Inferred from Mutant Phenotype

P

GO:0000085

G2 phase of mitotic cell cycle

PMID:11309417[2]

NAS: Non-traceable Author Statement

P

GO:0000166

nucleotide binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR010997

F

GO:0000166

nucleotide binding

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0547

F

GO:0000405

bubble DNA binding

PMID:11433031[3]

IDA: Inferred from Direct Assay

F

GO:0000724

double-strand break repair via homologous recombination

PMID:11309417[2]

NAS: Non-traceable Author Statement

P

GO:0000733

DNA strand renaturation

PMID:17878217[4]

IDA: Inferred from Direct Assay

P

GO:0000739

DNA strand annealing activity

PMID:17878217[4]

IDA: Inferred from Direct Assay

F

GO:0000800

lateral element

PMID:10728666[5]

IDA: Inferred from Direct Assay

C

GO:0001673

male germ cell nucleus

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

C

GO:0002039

p53 binding

PMID:11781842[6]

IPI: Inferred from Physical Interaction

UniProtKB:P04637

F

GO:0003676

nucleic acid binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR001650

F

GO:0003676

nucleic acid binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR002121

F

GO:0003676

nucleic acid binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR002464

F

GO:0003676

nucleic acid binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR011545

F

GO:0003677

DNA binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR012532

F

GO:0003677

DNA binding

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0238

F

GO:0003697

single-stranded DNA binding

PMID:12818200[7]

IDA: Inferred from Direct Assay

F

GO:0003824

catalytic activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR010997

F

GO:0004003

ATP-dependent DNA helicase activity

PMID:9388193[8]

IDA: Inferred from Direct Assay

F

GO:0004386

helicase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR001650

F

GO:0004386

helicase activity

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0347

F

GO:0004386

helicase activity

PMID:10871376[9]

IDA: Inferred from Direct Assay

F

GO:0004386

helicase activity

PMID:12181313[10]

IDA: Inferred from Direct Assay

F

GO:0004386

helicase activity

PMID:17878217[4]

IDA: Inferred from Direct Assay

F

GO:0005515

protein binding

PMID:10728666[5]

IPI: Inferred from Physical Interaction

UniProtKB:Q13472

F

GO:0005515

protein binding

PMID:10825162[11]

IPI: Inferred from Physical Interaction

UniProtKB:P27694

F

GO:0005515

protein binding

PMID:11309417[2]

IPI: Inferred from Physical Interaction

UniProtKB:Q06609

F

GO:0005515

protein binding

PMID:11919194[12]

IPI: Inferred from Physical Interaction

UniProtKB:Q14191

F

GO:0005515

protein binding

PMID:12181313[10]

IPI: Inferred from Physical Interaction

UniProtKB:Q15554

F

GO:0005515

protein binding

PMID:14688284[13]

IPI: Inferred from Physical Interaction

UniProtKB:P39748

F

GO:0005515

protein binding

PMID:15229185[14]

IPI: Inferred from Physical Interaction

UniProtKB:P54274

F

GO:0005515

protein binding

PMID:15229185[14]

IPI: Inferred from Physical Interaction

UniProtKB:Q15554

F

GO:0005515

protein binding

PMID:15965237[15]

IPI: Inferred from Physical Interaction

UniProtKB:P27694

F

GO:0005515

protein binding

PMID:16030011[16]

IPI: Inferred from Physical Interaction

UniProtKB:Q9NUX5

F

GO:0005515

protein binding

PMID:17961633[17]

IPI: Inferred from Physical Interaction

UniProtKB:Q8IYB8

F

GO:0005524

ATP binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR001650

F

GO:0005524

ATP binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR002464

F

GO:0005524

ATP binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR011545

F

GO:0005524

ATP binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR012532

F

GO:0005524

ATP binding

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0067

F

GO:0005524

ATP binding

PMID:17878217[4]

IDA: Inferred from Direct Assay

F

GO:0005622

intracellular

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR002121

C

GO:0005634

nucleus

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR012532

C

GO:0005634

nucleus

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0539

C

GO:0005634

nucleus

GO_REF:0000023

IEA: Inferred from Electronic Annotation

SP_SL:SL-0191

C

GO:0005634

nucleus

PMID:11500040[18]

IDA: Inferred from Direct Assay

C

GO:0005634

nucleus

PMID:18029348[19]

IDA: Inferred from Direct Assay

C

GO:0005634

nucleus

PMID:9388480[20]

IDA: Inferred from Direct Assay

C

GO:0005657

replication fork

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

C

GO:0005730

nucleolus

PMID:10779560[21]

IDA: Inferred from Direct Assay

C

GO:0005737

cytoplasm

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

C

GO:0005737

cytoplasm

PMID:18029348[19]

IDA: Inferred from Direct Assay

C

GO:0006200

ATP catabolic process

PMID:17878217[4]

IDA: Inferred from Direct Assay

P

GO:0006260

DNA replication

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR012532

P

GO:0006260

DNA replication

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR018982

P

GO:0006260

DNA replication

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0235

P

GO:0006281

DNA repair

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR018982

P

GO:0006281

DNA repair

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

GO:0006281

DNA repair

PMID:7585968[22]

NAS: Non-traceable Author Statement

P

GO:0006310

DNA recombination

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR004589

P

GO:0006310

DNA recombination

PMID:10728666[5]

NAS: Non-traceable Author Statement

P

GO:0006310

DNA recombination

PMID:7585968[22]

NAS: Non-traceable Author Statement

P

GO:0006974

response to DNA damage stimulus

PMID:12818200[7]

IMP: Inferred from Mutant Phenotype

P

GO:0008026

ATP-dependent helicase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR002464

F

GO:0008026

ATP-dependent helicase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR004589

F

GO:0008026

ATP-dependent helicase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR011545

F

GO:0008026

ATP-dependent helicase activity

PMID:12818200[7]

IDA: Inferred from Direct Assay

F

GO:0009378

four-way junction helicase activity

PMID:11433031[3]

IDA: Inferred from Direct Assay

F

GO:0009378

four-way junction helicase activity

PMID:12818200[7]

IDA: Inferred from Direct Assay

F

GO:0010165

response to X-ray

PMID:11309417[2]

IDA: Inferred from Direct Assay

P

GO:0016363

nuclear matrix

PMID:11309417[2]

IDA: Inferred from Direct Assay

C

GO:0016605

PML body

PMID:10728666[5]

IDA: Inferred from Direct Assay

C

GO:0016787

hydrolase activity

GO_REF:0000004

IEA: Inferred from Electronic Annotation

SP_KW:KW-0378

F

GO:0016818

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR012532

F

GO:0016887

ATPase activity

PMID:17878217[4]

IDA: Inferred from Direct Assay

F

GO:0031297

replication fork processing

PMID:17115688[23]

IDA: Inferred from Direct Assay

P

GO:0031572

G2/M transition DNA damage checkpoint

PMID:11309417[2]

NAS: Non-traceable Author Statement

P

GO:0043140

ATP-dependent 3'-5' DNA helicase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR018982

F

GO:0043140

ATP-dependent 3'-5' DNA helicase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

F

GO:0044237

cellular metabolic process

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR010997

P

GO:0045120

pronucleus

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

C

GO:0045893

positive regulation of transcription, DNA-dependent

PMID:11781842[6]

IDA: Inferred from Direct Assay

P

GO:0045910

negative regulation of DNA recombination

PMID:9671747[24]

IMP: Inferred from Mutant Phenotype

P

GO:0045950

negative regulation of mitotic recombination

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

GO:0046632

alpha-beta T cell differentiation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

GO:0046641

positive regulation of alpha-beta T cell proliferation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

GO:0048478

replication fork protection

PMID:10779560[21]

NAS: Non-traceable Author Statement

P

GO:0051098

regulation of binding

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

GO:0051259

protein oligomerization

PMID:10359700[25]

IDA: Inferred from Direct Assay

P

GO:0051276

chromosome organization

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

GO:0051782

negative regulation of cell division

PMID:11781842[6]

IMP: Inferred from Mutant Phenotype

P

GO:0051880

G-quadruplex DNA binding

PMID:11433031[3]

IDA: Inferred from Direct Assay

F

colocalizes_with

GO:0000781

chromosome, telomeric region

PMID:10779560[21]

IDA: Inferred from Direct Assay

C

colocalizes_with

GO:0016605

PML body

PMID:10779560[21]

IDA: Inferred from Direct Assay

C


Notes

References

See Help:References for how to manage references in GONUTS. Below are a number of reviews on the role of BLM (the human homolog of RecQ in E. coli) & its role in Bloom syndrome:

Roles of the Bloom's syndrome helicase in the maintenance of genome stability. Cheok et al (2005). [26]

Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Amor-Guéret (2006). [27]

Functions of RecQ family helicases: possible involvement of Bloom's and Werner's syndrome gene products in guarding genome integrity during DNA replication. Enomoto (2001). [28]

  1. ↑ Bayart E et al. (2004) A major role for mitotic CDC2 kinase inactivation in the establishment of the mitotic DNA damage checkpoint. Cancer Res 64: 8954-9 PubMed GONUTS page
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Bischof O et al. (2001) Regulation and localization of the Bloom syndrome protein in response to DNA damage. J Cell Biol 153: 367-80 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 Mohaghegh P et al. (2001) The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. Nucleic Acids Res 29: 2843-9 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 4.3 4.4 4.5 Guo RB et al. (2007) Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. Nucleic Acids Res 35: 6297-310 PubMed GONUTS page
  5. ↑ 5.0 5.1 5.2 5.3 Johnson FB et al. (2000) Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. Cancer Res 60: 1162-7 PubMed GONUTS page
  6. ↑ 6.0 6.1 6.2 Garkavtsev IV et al. (2001) The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control. Oncogene 20: 8276-80 PubMed GONUTS page
  7. ↑ 7.0 7.1 7.2 7.3 Janscak P et al. (2003) Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. J Mol Biol 330: 29-42 PubMed GONUTS page
  8. ↑ Karow JK et al. (1997) The Bloom's syndrome gene product is a 3'-5' DNA helicase. J Biol Chem 272: 30611-4 PubMed GONUTS page
  9. ↑ Brosh RM Jr et al. (2000) Potent inhibition of werner and bloom helicases by DNA minor groove binding drugs. Nucleic Acids Res 28: 2420-30 PubMed GONUTS page
  10. ↑ 10.0 10.1 Opresko PL et al. (2002) Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases. J Biol Chem 277: 41110-9 PubMed GONUTS page
  11. ↑ Brosh RM Jr et al. (2000) Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity. J Biol Chem 275: 23500-8 PubMed GONUTS page
  12. ↑ von Kobbe C et al. (2002) Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. J Biol Chem 277: 22035-44 PubMed GONUTS page
  13. ↑ Sharma S et al. (2004) Stimulation of flap endonuclease-1 by the Bloom's syndrome protein. J Biol Chem 279: 9847-56 PubMed GONUTS page
  14. ↑ 14.0 14.1 Lillard-Wetherell K et al. (2004) Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2. Hum Mol Genet 13: 1919-32 PubMed GONUTS page
  15. ↑ Doherty KM et al. (2005) Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases. J Biol Chem 280: 29494-505 PubMed GONUTS page
  16. ↑ Opresko PL et al. (2005) POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates. J Biol Chem 280: 32069-80 PubMed GONUTS page
  17. ↑ Pereira M et al. (2007) Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality. Mech Ageing Dev 128: 609-17 PubMed GONUTS page
  18. ↑ Suzuki H et al. (2001) The N-terminal internal region of BLM is required for the formation of dots/rod-like structures which are associated with SUMO-1. Biochem Biophys Res Commun 286: 322-7 PubMed GONUTS page
  19. ↑ 19.0 19.1 Barbe L et al. (2008) Toward a confocal subcellular atlas of the human proteome. Mol Cell Proteomics 7: 499-508 PubMed GONUTS page
  20. ↑ Kaneko H et al. (1997) BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. Biochem Biophys Res Commun 240: 348-53 PubMed GONUTS page
  21. ↑ 21.0 21.1 21.2 21.3 Yankiwski V et al. (2000) Nuclear structure in normal and Bloom syndrome cells. Proc Natl Acad Sci U S A 97: 5214-9 PubMed GONUTS page
  22. ↑ 22.0 22.1 Ellis NA et al. (1995) The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83: 655-66 PubMed GONUTS page
  23. ↑ Machwe A et al. (2006) The Werner and Bloom syndrome proteins catalyze regression of a model replication fork. Biochemistry 45: 13939-46 PubMed GONUTS page
  24. ↑ Yamagata K et al. (1998) Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases. Proc Natl Acad Sci U S A 95: 8733-8 PubMed GONUTS page
  25. ↑ Karow JK et al. (1999) Oligomeric ring structure of the Bloom's syndrome helicase. Curr Biol 9: 597-600 PubMed GONUTS page
  26. ↑ Cheok CF et al. (2005) Roles of the Bloom's syndrome helicase in the maintenance of genome stability. Biochem Soc Trans 33: 1456-9 PubMed GONUTS page
  27. ↑ Amor-Guéret M (2006) Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett 236: 1-12 PubMed GONUTS page
  28. ↑ Enomoto T (2001) Functions of RecQ family helicases: possible involvement of Bloom's and Werner's syndrome gene products in guarding genome integrity during DNA replication. J Biochem 129: 501-7 PubMed GONUTS page
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