Blm Bloom syndrome, RecQ like helicase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Blmprovided by MGI
Official Full Name: Bloom syndrome, RecQ like helicaseprovided by MGI
Primary source: MGI:MGI:1328362
See related: Ensembl:ENSMUSG00000030528 AllianceGenome:MGI:1328362
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables 3'-5' DNA helicase activity. Involved in G-quadruplex DNA unwinding and replication fork processing. Acts upstream of or within several processes, including DNA metabolic process; negative regulation of thymocyte apoptotic process; and regulation of DNA recombination. Located in chromosome; cytoplasm; and nucleus. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and mammary gland. 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, Apr 2022]
Expression: Biased expression in liver E14 (RPKM 7.3), liver E14.5 (RPKM 5.7) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 D2; 7 45.65 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (80104839..80184896, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (80454993..80535148, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Involvement of a BH3-only apoptosis sensitizer gene Blm-s in hippocampus-mediated mood control.
Title: Involvement of a BH3-only apoptosis sensitizer gene Blm-s in hippocampus-mediated mood control.
BLM has Contrary Effects on Repeat-Mediated Deletions, based on the Distance of DNA DSBs to a Repeat and Repeat Divergence.
Title: BLM has Contrary Effects on Repeat-Mediated Deletions, based on the Distance of DNA DSBs to a Repeat and Repeat Divergence.
Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
Title: Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.
It has been found that deletion of 53BP1 can relieve several of the repair deficiencies observed in B-cells lacking BLM and Exo1, just as it does in cells lacking BRCA1.
Title: DNA repair and cell cycle checkpoint defects in a mouse model of 'BRCAness' are partially rescued by 53BP1 deletion.
In the absence of BLM, sister chromatid exchange events do not occur randomly throughout the genome but are strikingly enriched at coding regions, specifically at sites of guanine quadruplex motifs in transcribed genes.
Title: BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes.
The anti-recombinase activity of BLM is of general importance for normal retention of RAD51 at DNA double strand break sites and regulation of homologous recombination.
Title: BLM helicase regulates DNA repair by counteracting RAD51 loading at DNA double-strand break sites.
BLM helicase facilites telomere replication by resolving G4 structures formed during copying of the G-rich strand by leading strand synthesis.
Title: BLM helicase facilitates telomere replication during leading strand synthesis of telomeres.
Data suggest that BLM suppresses homologous recombination, while full-length BRCA1 promotes this process.
Title: A conditional mouse model for measuring the frequency of homologous recombination events in vivo in the absence of essential genes.
Although interhomolog recombination is slightly decreased in the absence of BLM, loss of heterozygosity is increased by fivefold or more, implying significantly increased interhomolog crossing over.
Title: Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells.
Blm has roles both upstream and downstream of the Rad54 protein, a core HR factor. Disruption of Rad54 in the Blm-mutant background reduced the elevated level of gene targeting and of sister chromatid exchanges.
Title: BLM has early and late functions in homologous recombination repair in mouse embryonic stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (8) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

mHAa21g7.seq (e-PCR)
- UniSTS:125952

Blm (e-PCR), detects polymorphism
- UniSTS:464704

Blm (e-PCR), detects polymorphism
- UniSTS:464705

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

NoName (e-PCR)
- UniSTS:235695

Gene Ontology Provided by MGI

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 8-hydroxy-2'-deoxyguanosine DNA binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP-dependent activity, acting on DNA	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables DNA/DNA annealing activity	ISO Inferred from Sequence Orthology more info
enables G-quadruplex DNA binding	ISO Inferred from Sequence Orthology more info
enables Y-form DNA binding	ISO Inferred from Sequence Orthology more info
enables bubble DNA binding	ISO Inferred from Sequence Orthology more info
enables forked DNA-dependent helicase activity	ISO Inferred from Sequence Orthology more info
enables four-way junction DNA binding	ISO Inferred from Sequence Orthology more info
enables four-way junction helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables four-way junction helicase activity	ISO Inferred from Sequence Orthology more info
enables helicase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular function activator activity	ISO Inferred from Sequence Orthology more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables p53 binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables telomeric D-loop binding	ISO Inferred from Sequence Orthology more info
enables telomeric G-quadruplex DNA binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DN4 thymocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA double-strand break processing	ISO Inferred from Sequence Orthology more info
involved_in DNA duplex unwinding	ISO Inferred from Sequence Orthology more info
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA replication	IGI Inferred from Genetic Interaction more info	PubMed
involved_in DNA replication	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 G-quadruplex DNA unwinding	IBA Inferred from Biological aspect of Ancestor more info
involved_in G-quadruplex DNA unwinding	IGI Inferred from Genetic Interaction more info	PubMed
involved_in G-quadruplex DNA unwinding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in G-quadruplex DNA unwinding	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of alpha-beta T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to camptothecin	ISO Inferred from Sequence Orthology more info
involved_in cellular response to hydroxyurea	ISO Inferred from Sequence Orthology more info
involved_in cellular response to ionizing radiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to xenobiotic stimulus	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within chromosome organization	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	ISO Inferred from Sequence Orthology more info
acts_upstream_of immature T cell proliferation in thymus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2 DNA damage checkpoint signaling	ISO Inferred from Sequence Orthology more info
acts_upstream_of mitotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA recombination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell division	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of mitotic recombination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of mitotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of thymocyte apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of thymocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of alpha-beta T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of double-strand break repair via homologous recombination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of immature T cell proliferation in thymus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein complex oligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated DNA replication	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of binding	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cyclin-dependent protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
involved_in replication fork processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in replication fork processing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within replication-born double-strand break repair via sister chromatid exchange	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in resolution of DNA recombination intermediates	ISO Inferred from Sequence Orthology more info
involved_in response to X-ray	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within telomere maintenance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in telomeric D-loop disassembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
colocalizes_with PML body	ISO Inferred from Sequence Orthology more info
located_in PML body	ISO Inferred from Sequence Orthology more info
part_of RecQ family helicase-topoisomerase III complex	ISO Inferred from Sequence Orthology more info
is_active_in chromosome	IBA Inferred from Biological aspect of Ancestor more info
located_in chromosome, telomeric region	IMP Inferred from Mutant Phenotype more info	PubMed
colocalizes_with chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in lateral element	ISO Inferred from Sequence Orthology more info
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear chromosome	ISO Inferred from Sequence Orthology more info
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement 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
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in pronucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in replication fork	IDA Inferred from Direct Assay more info	PubMed
located_in replication fork	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: recQ-like DNA helicase BLM

Names: Bloom syndrome homolog; Bloom syndrome, RecQ helicase-like; DNA 3'-5' helicase BLM; bloom syndrome protein homolog; mBLM; recQ helicase homolog

NP_001035992.1

EC 3.6.4.12

NP_031576.4

EC 3.6.4.12

XP_017177446.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001042527.3 → NP_001035992.1 recQ-like DNA helicase BLM isoform 2

See identical proteins and their annotated locations for NP_001035992.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC110907

Consensus CDS

CCDS40000.1

UniProtKB/Swiss-Prot

O88198, O88700

Related

ENSMUSP00000080062.5, ENSMUST00000081314.11

Conserved Domains (9) summary

smart00341
Location:1218 → 1294

HRDC; Helicase and RNase D C-terminal

TIGR00614
Location:665 → 1148

recQ_fam; ATP-dependent DNA helicase, RecQ family

smart00956
Location:1084 → 1186

RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure

cd00079
Location:869 → 1000

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:677 → 849

DEAD; DEAD/DEAH box helicase

pfam08072
Location:379 → 414

BDHCT; BDHCT (NUC031) domain

pfam16124
Location:1005 → 1074

RecQ_Zn_bind; RecQ zinc-binding

pfam16202
Location:1 → 368

BLM_N; N-terminal region of Bloom syndrome protein

pfam16204
Location:430 → 655

BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
NM_007550.5 → NP_031576.4 recQ-like DNA helicase BLM isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC110907

Consensus CDS

CCDS52281.1

UniProtKB/TrEMBL

E9PZ97

Related

ENSMUSP00000127995.2, ENSMUST00000170315.3

Conserved Domains (5) summary

smart00341
Location:1221 → 1297

HRDC; Helicase and RNase D C-terminal

TIGR00614
Location:668 → 1151

recQ_fam; ATP-dependent DNA helicase, RecQ family

pfam08072
Location:382 → 419

BDHCT; BDHCT (NUC031) domain

pfam16202
Location:4 → 371

BLM_N; N-terminal region of Bloom syndrome protein

pfam16204
Location:433 → 658

BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

80104839..80184896 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017321957.2 → XP_017177446.1 recQ-like DNA helicase BLM isoform X1

Conserved Domains (4) summary

cd18016
Location:659 → 860

DEXHc_RecQ2_BLM; DEAH-box helicase domain of RecQ2

pfam08072
Location:379 → 416

BDHCT; BDHCT (NUC031) domain

pfam16202
Location:1 → 368

BLM_N; N-terminal region of Bloom syndrome protein

pfam16204
Location:430 → 655

BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein