Identity
HGNC
LOCATION
15q26.1
LOCUSID
ALIAS
BS,MGRISCE1,RECQ2,RECQL2,RECQL3
FUSION GENES
DNA/RNA
Transcription
4.4kb mRNA
Proteins
Description
1417 amino acids; ATP binding in amino acid 689-696; DEAH box in 795-798; two putative nuclear localization signals in the C-term in 1334-1349
Expression
accumulates to high levels in S phase of the cell cycle, persists in G2/M and sharply declines in G1. Hyperphoshorylated in mitosis
Localisation
nuclear (PML nuclear bodies and nucleolus)
Function
Homology
homologous to RecQ helicases, a subfamily of DExH box-containing helicases; in particular, similarity with the four known human members in the RecQ subfamily, human RecQL, human Wrn, the product of the Werner syndrome gene, and the human RecQL4, involved in the Rothmund-Thomson syndrome, and RecQL5 proteins
Mutations
Germinal
five BLM mutations introducing amino acid substitutions and four BLM mutations introducing premature nonsense codons into the coding sequence have been described to date; one BLM mutation consisting in a 6 bp deletion accompanied by a 7 bp insertion at nucleic acid position 2281 is common in patients from Ashkenazi Jewish ancestry, leading to a truncated protein of 739 amino acids in length; two BLM mutations, 631delCAA and 1610insA were detected in japanese patients.
Implicated in
Entity name
Disease
Bloom syndrome is a chromosome instability syndrome/cancer prone disease (at risk of numerous, early occurring cancers of various types)
Prognosis
1/3 of patients are dead at mean age 24 yrs, and the mean age of the 2/3 remaining alive patients is 22 yrs
Cytogenetics
chromatid/chromosome breaks; triradial and quadriradial figures, highly elevated spontaneous sister chromatid exchange rate
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11960380 | 2002 | Bloom's syndrome protein response to ultraviolet-C radiation and hydroxyurea-mediated DNA synthesis inhibition. | Ababou M et al |
| 10862105 | 2000 | Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome. | Barakat A et al |
| 15604258 | 2004 | A major role for mitotic CDC2 kinase inactivation in the establishment of the mitotic DNA damage checkpoint. | Bayart E et al |
| 11309417 | 2001 | Regulation and localization of the Bloom syndrome protein in response to DNA damage. | Bischof O et al |
| 11741924 | 2002 | Dephosphorylation and subcellular compartment change of the mitotic Bloom's syndrome DNA helicase in response to ionizing radiation. | Dutertre S et al |
| 8875252 | 1996 | Molecular genetics of Bloom's syndrome. | Ellis NA et al |
| 7585968 | 1995 | The Bloom's syndrome gene product is homologous to RecQ helicases. | Ellis NA et al |
| 9285778 | 1997 | Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. | Foucault F et al |
| 11781842 | 2001 | The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control. | Garkavtsev IV et al |
| 11971187 | 2002 | Increased error-prone non homologous DNA end-joining--a proposed mechanism of chromosomal instability in Bloom's syndrome. | Gaymes TJ et al |
| 10525530 | 1999 | PML is critical for ND10 formation and recruits the PML-interacting protein daxx to this nuclear structure when modified by SUMO-1. | Ishov AM et al |
| 15143166 | 2004 | Physical and functional interaction between the Bloom's syndrome gene product and the largest subunit of chromatin assembly factor 1. | Jiao R et al |
| 15289897 | 2004 | Relatively common mutations of the Bloom syndrome gene in the Japanese population. | Kaneko H et al |
| 9388480 | 1997 | BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. | Kaneko H et al |
| 9388193 | 1997 | The Bloom's syndrome gene product is a 3'-5' DNA helicase. | Karow JK et al |
| 10823897 | 2000 | The Bloom's syndrome gene product promotes branch migration of holliday junctions. | Karow JK et al |
| 9878247 | 1998 | Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. | Kitao S et al |
| 12019152 | 2002 | The BLM helicase is necessary for normal DNA double-strand break repair. | Langland G et al |
| 10678659 | 2000 | Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. | Lindor NM et al |
| 15845538 | 2005 | RecQ family members combine strand pairing and unwinding activities to catalyze strand exchange. | Machwe A et al |
| 12724401 | 2003 | A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. | Meetei AR et al |
| 11433031 | 2001 | The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. | Mohaghegh P et al |
| 14576316 | 2003 | Possible anti-recombinogenic role of Bloom's syndrome helicase in double-strand break processing. | Onclercq-Delic R et al |
| 12181313 | 2002 | Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases. | Opresko PL et al |
| 11691925 | 2001 | Direct association of Bloom's syndrome gene product with the human mismatch repair protein MLH1. | Pedrazzi G et al |
| 7961977 | 1994 | Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. | Puranam KL et al |
| 14577841 | 2003 | Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase. | Schawalder J et al |
| 7527136 | 1994 | Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12. | Seki M et al |
| 15364958 | 2004 | Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest. | Sengupta S et al |
| 15509577 | 2004 | Genetic interactions between BLM and DNA ligase IV in human cells. | So S et al |
| 12444098 | 2002 | The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis. | Stavropoulos DJ et al |
| 9765292 | 1998 | The Bloom's syndrome helicase unwinds G4 DNA. | Sun H et al |
| 15579905 | 2005 | Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure. | Wang W et al |
| 11399766 | 2001 | Functional interaction of p53 and BLM DNA helicase in apoptosis. | Wang XW et al |
| 10783165 | 2000 | BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. | Wang Y et al |
| 11278509 | 2001 | Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51. | Wu L et al |
| 12080066 | 2002 | The processing of Holliday junctions by BLM and WRN helicases is regulated by p53. | Yang Q et al |
| 10779560 | 2000 | Nuclear structure in normal and Bloom syndrome cells. | Yankiwski V et al |
| 8602509 | 1996 | Positional cloning of the Werner's syndrome gene. | Yu CE et al |
| 15805243 | 2005 | BLM helicase facilitates Mus81 endonuclease activity in human cells. | Zhang R et al |
| 11087418 | 2000 | Binding and melting of D-loops by the Bloom syndrome helicase. | van Brabant AJ et al |
| 11919194 | 2002 | Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. | von Kobbe C et al |
Other Information
Locus ID:
NCBI: 641
MIM: 604610
HGNC: 1058
Ensembl: ENSG00000197299
Variants:
dbSNP: 641
ClinVar: 641
TCGA: ENSG00000197299
COSMIC: BLM
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000197299 | ENST00000355112 | P54132 |
| ENSG00000197299 | ENST00000559724 | H0YLV8 |
| ENSG00000197299 | ENST00000560509 | H0YNU5 |
| ENSG00000197299 | ENST00000648453 | A0A3B3IT82 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38266639 | 2024 | BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution. | 1 |
| 38874681 | 2024 | RecQ helicase expression in patients with telomeropathies. | 0 |
| 38266639 | 2024 | BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution. | 1 |
| 38874681 | 2024 | RecQ helicase expression in patients with telomeropathies. | 0 |
| 37415147 | 2023 | PARP1 negatively regulates transcription of BLM through its interaction with HSP90AB1 in prostate cancer. | 0 |
| 37503837 | 2023 | BLM helicase protein negatively regulates stress granule formation through unwinding RNA G-quadruplex structures. | 0 |
| 37777511 | 2023 | A CK2 and SUMO-dependent, PML NB-involved regulatory mechanism controlling BLM ubiquitination and G-quadruplex resolution. | 3 |
| 37415147 | 2023 | PARP1 negatively regulates transcription of BLM through its interaction with HSP90AB1 in prostate cancer. | 0 |
| 37503837 | 2023 | BLM helicase protein negatively regulates stress granule formation through unwinding RNA G-quadruplex structures. | 0 |
| 37777511 | 2023 | A CK2 and SUMO-dependent, PML NB-involved regulatory mechanism controlling BLM ubiquitination and G-quadruplex resolution. | 3 |
| 35102151 | 2022 | Duplex DNA and BLM regulate gate opening by the human TopoIIIα-RMI1-RMI2 complex. | 6 |
| 35218564 | 2022 | Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome. | 3 |
| 35922882 | 2022 | Bloom Syndrome Helicase Compresses Single-Stranded DNA into Phase-Separated Condensates. | 5 |
| 36004459 | 2022 | Downregulation of BLM RecQ helicase inhibits proliferation, promotes the apoptosis and enhances the sensitivity of bladder cancer cells to cisplatin. | 2 |
| 35102151 | 2022 | Duplex DNA and BLM regulate gate opening by the human TopoIIIα-RMI1-RMI2 complex. | 6 |
Citation
Mounira Amor-Guéret
BLM (Bloom)
Atlas Genet Cytogenet Oncol Haematol. 2005-05-01
Online version: http://atlasgeneticsoncology.org/gene/109
Historical Card
2000-09-01 BLM (Bloom) by Mounira Amor-Guéret Affiliation
1998-02-01 BLM (Bloom) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
