U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 12144, updated on 5-Jan-2023

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Blm in Genome Data Viewer
Location:
7 D2; 7 45.65 cM
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (80104741..80184896, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (80454993..80535148, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene VISTA enhancer mm169 Neighboring gene serine hydroxymethyltransferase 2 pseudogene Neighboring gene NADH:ubiquinone oxidoreductase subunit AB1b Neighboring gene predicted gene, 42398 Neighboring gene CREB regulated transcription coactivator 3 Neighboring gene predicted gene 15880

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (8)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 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
PubMed 
involved_in G-quadruplex DNA unwinding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 DNA damage stimulus ISO
Inferred from Sequence Orthology
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 ketone IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cellular response to organic cyclic compound IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cellular response to organonitrogen compound IGI
Inferred from Genetic Interaction
more info
PubMed 
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
PubMed 
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 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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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

Preferred Names
recQ-like DNA helicase BLM; Bloom syndrome protein homolog
Names
Bloom syndrome homolog
Bloom syndrome, RecQ helicase-like
bloom syndrome protein homolog
mBLM
recQ helicase homolog
NP_001035992.1
NP_031576.4
XP_017177446.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001042527.2NP_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, AK157898, Z98263
    Consensus CDS
    CCDS40000.1
    UniProtKB/Swiss-Prot
    O88198, O88700
    Related
    ENSMUSP00000080062.5, ENSMUST00000081314.11
    Conserved Domains (9) summary
    smart00341
    Location:12181294
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:6651148
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    smart00956
    Location:10841186
    RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure
    cd00079
    Location:8691000
    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:677849
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:379414
    BDHCT; BDHCT (NUC031) domain
    pfam16124
    Location:10051074
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16202
    Location:1368
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:430655
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
  2. NM_007550.4NP_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, BB614580, Z98263
    Consensus CDS
    CCDS52281.1
    UniProtKB/Swiss-Prot
    O88700
    UniProtKB/TrEMBL
    E9PZ97
    Related
    ENSMUSP00000127995.2, ENSMUST00000170315.3
    Conserved Domains (5) summary
    smart00341
    Location:12211297
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:6681151
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    pfam08072
    Location:382419
    BDHCT; BDHCT (NUC031) domain
    pfam16202
    Location:4371
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:433658
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    80104741..80184896 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017321957.2XP_017177446.1  Bloom syndrome protein homolog isoform X1

    Conserved Domains (4) summary
    cd18016
    Location:659860
    DEXHc_RecQ2_BLM; DEAH-box helicase domain of RecQ2
    pfam08072
    Location:379416
    BDHCT; BDHCT (NUC031) domain
    pfam16202
    Location:1368
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:430655
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

RNA

  1. XR_004934002.1 RNA Sequence

  2. XR_004934003.1 RNA Sequence

  3. XR_001785468.3 RNA Sequence