Blm Bloom syndrome helicase [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Blmprovided by FlyBase
Official Full Name: Bloom syndrome helicaseprovided by FlyBase
Primary source: FLYBASE:FBgn0002906
Locus tag: Dmel_CG6920
See related: AllianceGenome:FB:FBgn0002906
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: blm; BLM; Bloom; CG6920; dBlm; dBLM; dmblm; Dmblm; DmBlm; DmBLM; Dmel\CG6920; DmKu70; ku70; Ku70; mus 309; mus309; Mus309; MUS309; RecQ
Summary: Enables 3'-5' DNA helicase activity; DNA/DNA annealing activity; and Y-form DNA binding activity. Involved in DNA duplex unwinding; DNA metabolic process; and negative regulation of double-strand break repair via single-strand annealing. Located in nucleus. Used to study Bloom syndrome. Human ortholog(s) of this gene implicated in Bloom syndrome. Orthologous to human BLM (BLM RecQ like helicase). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 86E17-86E17; 3-51 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3R	NT_033777.3 (11736810..11741783, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3R	NT_033777.2 (7562532..7567505, complement)

Chromosome 3R - NT_033777.3 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study shows that meiotic crossover patterning is lost in Drosophila melanogaster mutants that lack the Bloom syndrome helicase.
Title: Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction.
Blm helicase function plays a role in homologous recombination. Blm is not required for suppression of recombination between diverged sequences.
Title: The Role of Blm Helicase in Homologous Recombination, Gene Conversion Tract Length, and Recombination Between Diverged Sequences in Drosophilamelanogaster.
Dme-miR-314-3p modulation in Cr(VI) exposed Drosophila affects DNA damage repair by targeting mus309
Title: Dme-miR-314-3p modulation in Cr(VI) exposed Drosophila affects DNA damage repair by targeting mus309.
Drosophila BLM suppresses error-prone alternative end-joining repair of DNA double-strand breaks that can result in genome instability and tumor formation during aging.
Title: Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila.
these studies of synthetic lethality provide insights into the multiple functions of DmBLM and how various endonucleases may function when DmBLM is absent
Title: Three structure-selective endonucleases are essential in the absence of BLM helicase in Drosophila.
Data show that excision screens in mus309 mutant flies that lack DmBlm increases the percentage and overall size of flanking deletions recovered after excision of either P or Minos elements.
Title: Removal of the bloom syndrome DNA helicase extends the utility of imprecise transposon excision for making null mutations in Drosophila.
The suppression of homeologous single strand annealing depends on the Bloom helicase (Blm), encoded by the Drosophila gene mus309.
Title: Drosophila bloom helicase maintains genome integrity by inhibiting recombination between divergent DNA sequences.
mutations in mus81 and mms4 are synthetically lethal with null mutations in mus309
Title: Synthetic lethality of Drosophila in the absence of the MUS81 endonuclease and the DmBlm helicase is associated with elevated apoptosis.
Mutations that delete the N terminus of DmBlm, but not the helicase domain, have DSB repair defects as severe as those caused by null mutations.
Title: Multiple functions of Drosophila BLM helicase in maintenance of genome stability.
Blm mutants are defective for homologous repair but show a compensating increase in single-strand annealing.
Title: Template disruptions and failure of double Holliday junction dissolution during double-strand break repair in Drosophila BLM mutants.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables 3'-5' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3'-5' DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA/DNA annealing activity	IDA Inferred from Direct Assay more info	PubMed
enables Y-form DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables four-way junction helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IGI Inferred from Genetic Interaction more info	PubMed
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA duplex unwinding	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IGI Inferred from Genetic Interaction more info	PubMed
involved_in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in DNA strand displacement	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA synthesis involved in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA unwinding involved in DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair involved in meiotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IGI Inferred from Genetic Interaction more info	PubMed
involved_in double-strand break repair via synthesis-dependent strand annealing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of double-strand break repair via single-strand annealing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reciprocal meiotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of RecQ family helicase-topoisomerase III complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in chromosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: bloom syndrome helicase

Names: Blm-PA; Bloom's helicase; CG6920-PA; RecQ-like; bloom; bloom helicase; bloom syndrome helicase ortholog; drosophila Blm; genome stabilizer 1; gesta1; mutagen-sensitive 309

NP_524319.2

EC 5.6.2.4

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NT_033777.3 Reference assembly

Range

11736810..11741783 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_079595.3 → NP_524319.2 bloom syndrome helicase [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_524319.2

Status: REVIEWED

UniProtKB/Swiss-Prot

Q9VGI8, Q9Y062

Related

FBpp0081910

Conserved Domains (6) summary

COG0514
Location:729 → 1359

RecQ; Superfamily II DNA helicase RecQ [Replication, recombination and repair]

cd00079
Location:931 → 1061

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam00270
Location:739 → 908

DEAD; DEAD/DEAH box helicase

pfam00570
Location:1286 → 1352

HRDC; HRDC domain

pfam09382
Location:1140 → 1253

RQC; RQC domain

pfam16124
Location:1066 → 1134

RecQ_Zn_bind; RecQ zinc-binding