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

    Gene ID: 12144, updated on 22-Aug-2021

    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
    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
    Expression
    Biased expression in liver E14 (RPKM 7.3), liver E14.5 (RPKM 5.7) and 12 other tissues See more
    Orthologs
    NEW
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    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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (87599879..87680005, 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 (1) 

    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 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 zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in DNA double-strand break processing ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA duplex unwinding ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    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 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 mitotic G2 DNA damage checkpoint signaling ISO
    Inferred from Sequence Orthology
    more info
     
    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 
    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 
    involved_in positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    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-dependent 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 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
     
    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 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
    Bloom syndrome protein homolog
    Names
    Bloom syndrome homolog
    Bloom syndrome, RecQ helicase-like
    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  Bloom syndrome protein homolog 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
      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  Bloom syndrome protein homolog 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 (9) summary
      smart00341
      Location:12211297
      HRDC; Helicase and RNase D C-terminal
      TIGR00614
      Location:6681151
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      smart00956
      Location:10871189
      RQC; This DNA-binding domain is found in the RecQ helicase among others and has a helix-turn-helix structure
      cd00079
      Location:8721003
      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:680852
      DEAD; DEAD/DEAH box helicase
      pfam08072
      Location:382417
      BDHCT; BDHCT (NUC031) domain
      pfam16124
      Location:10081077
      RecQ_Zn_bind; RecQ zinc-binding
      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

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