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HUMAN:BLM
Contents |
| Species (Taxon ID) | Homo sapiens (Human). (taxon:9606) | |
| Gene Name(s) | BLM ( synonyms: RECQ2, RECQL3 ) | |
| Protein Name(s) |
| |
| 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 |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0000085 |
G2 phase of mitotic cell cycle |
NAS: Non-traceable Author Statement |
P |
|||||
| GO:0000166 |
nucleotide binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0000166 |
nucleotide binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0000405 |
bubble DNA binding |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0000724 |
double-strand break repair via homologous recombination |
NAS: Non-traceable Author Statement |
P |
|||||
| GO:0000733 |
DNA strand renaturation |
IDA: Inferred from Direct Assay |
P |
|||||
| GO:0000739 |
DNA strand annealing activity |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0000800 |
lateral element |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0001673 |
male germ cell nucleus |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
C |
||||
| GO:0002039 |
p53 binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0003676 |
nucleic acid binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0003676 |
nucleic acid binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0003676 |
nucleic acid binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0003676 |
nucleic acid binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0003677 |
DNA binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0003677 |
DNA binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0003697 |
single-stranded DNA binding |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0003824 |
catalytic activity |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0004003 |
ATP-dependent DNA helicase activity |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0004386 |
helicase activity |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0004386 |
helicase activity |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0004386 |
helicase activity |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0004386 |
helicase activity |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0004386 |
helicase activity |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005524 |
ATP binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0005524 |
ATP binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0005524 |
ATP binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0005524 |
ATP binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0005524 |
ATP binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0005524 |
ATP binding |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0005622 |
intracellular |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005634 |
nucleus |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005634 |
nucleus |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005634 |
nucleus |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0191 |
C |
||||
| GO:0005634 |
nucleus |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005634 |
nucleus |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005634 |
nucleus |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005657 |
replication fork |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
C |
||||
| GO:0005730 |
nucleolus |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
C |
||||
| GO:0005737 |
cytoplasm |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0006200 |
ATP catabolic process |
IDA: Inferred from Direct Assay |
P |
|||||
| GO:0006260 |
DNA replication |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0006260 |
DNA replication |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0006260 |
DNA replication |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0006281 |
DNA repair |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0006281 |
DNA repair |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
P |
||||
| GO:0006281 |
DNA repair |
NAS: Non-traceable Author Statement |
P |
|||||
| GO:0006310 |
DNA recombination |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0006310 |
DNA recombination |
NAS: Non-traceable Author Statement |
P |
|||||
| GO:0006310 |
DNA recombination |
NAS: Non-traceable Author Statement |
P |
|||||
| GO:0006974 |
response to DNA damage stimulus |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0008026 |
ATP-dependent helicase activity |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0008026 |
ATP-dependent helicase activity |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0008026 |
ATP-dependent helicase activity |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0008026 |
ATP-dependent helicase activity |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0009378 |
four-way junction helicase activity |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0009378 |
four-way junction helicase activity |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0010165 |
response to X-ray |
IDA: Inferred from Direct Assay |
P |
|||||
| GO:0016363 |
nuclear matrix |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0016605 |
PML body |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0016787 |
hydrolase activity |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0016818 |
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0016887 |
ATPase activity |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0031297 |
replication fork processing |
IDA: Inferred from Direct Assay |
P |
|||||
| GO:0031572 |
G2/M transition DNA damage checkpoint |
NAS: Non-traceable Author Statement |
P |
|||||
| GO:0043140 |
ATP-dependent 3'-5' DNA helicase activity |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0043140 |
ATP-dependent 3'-5' DNA helicase activity |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
F |
||||
| GO:0044237 |
cellular metabolic process |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0045120 |
pronucleus |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
C |
||||
| GO:0045893 |
positive regulation of transcription, DNA-dependent |
IDA: Inferred from Direct Assay |
P |
|||||
| GO:0045910 |
negative regulation of DNA recombination |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0045950 |
negative regulation of mitotic recombination |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
P |
||||
| GO:0046632 |
alpha-beta T cell differentiation |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
P |
||||
| GO:0046641 |
positive regulation of alpha-beta T cell proliferation |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
P |
||||
| GO:0048478 |
replication fork protection |
NAS: Non-traceable Author Statement |
P |
|||||
| GO:0051098 |
regulation of binding |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
P |
||||
| GO:0051259 |
protein oligomerization |
IDA: Inferred from Direct Assay |
P |
|||||
| GO:0051276 |
chromosome organization |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000127995 |
P |
||||
| GO:0051782 |
negative regulation of cell division |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0051880 |
G-quadruplex DNA binding |
IDA: Inferred from Direct Assay |
F |
|||||
|
colocalizes_with |
GO:0000781 |
chromosome, telomeric region |
IDA: Inferred from Direct Assay |
C |
||||
|
colocalizes_with |
GO:0016605 |
PML body |
IDA: Inferred from Direct Assay |
C |
| |||
| edit table |
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]
- ↑ 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
- ↑ 2.0 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
- ↑ 3.0 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
- ↑ 4.0 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
- ↑ 5.0 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
- ↑ 6.0 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
- ↑ 7.0 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
- ↑ 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
- ↑ 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
- ↑ 10.0 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 14.0 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 19.0 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
- ↑ 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
- ↑ 21.0 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
- ↑ 22.0 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
- ↑ 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
- ↑ 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
- ↑ Karow JK et al. (1999) Oligomeric ring structure of the Bloom's syndrome helicase. Curr Biol 9: 597-600 PubMed GONUTS page
- ↑ 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
- ↑ Amor-Guéret M (2006) Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett 236: 1-12 PubMed GONUTS page
- ↑ 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