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

    Gene ID: 12144, updated on 22-Apr-2017
    Official Symbol
    Blmprovided by MGI
    Official Full Name
    Bloom syndrome, RecQ helicase-likeprovided by MGI
    Primary source
    MGI:MGI:1328362
    See related
    Ensembl:ENSMUSG00000030528 Vega:OTTMUSG00000058676
    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
    Orthologs
    Location:
    7 D2; 7 45.65 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 7 NC_000073.6 (80454993..80535147, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (87599879..87680005, complement)

    Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene furin (paired basic amino acid cleaving enzyme) Neighboring gene serine hydroxymethyltransferase 2 pseudogene Neighboring gene NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex 1, pseudogene Neighboring gene predicted gene, 42398 Neighboring gene CREB regulated transcription coactivator 3 Neighboring gene predicted gene 15880

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    ATP-dependent 3'-5' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP-dependent DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    ATP-dependent helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    G-quadruplex DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Y-form DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    annealing helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    bubble DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    forked DNA-dependent helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    four-way junction DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    four-way junction helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    four-way junction helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
    Inferred from Electronic Annotation
    more info
     
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidized purine DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    p53 binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    telomeric D-loop binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA double-strand break processing ISO
    Inferred from Sequence Orthology
    more info
     
    DNA duplex unwinding ISO
    Inferred from Sequence Orthology
    more info
     
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA replication IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    G-quadruplex DNA unwinding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    G-quadruplex DNA unwinding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    G-quadruplex DNA unwinding ISO
    Inferred from Sequence Orthology
    more info
     
    alpha-beta T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to camptothecin ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to drug IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular response to hydroxyurea ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
     
    chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic G2 DNA damage checkpoint ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of DNA recombination ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cell division ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of mitotic recombination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of mitotic recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of thymocyte apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of thymocyte apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of alpha-beta T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of double-strand break repair via homologous recombination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    protein oligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cyclin-dependent protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    replication fork processing ISO
    Inferred from Sequence Orthology
    more info
     
    replication-born double-strand break repair via sister chromatid exchange IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to X-ray ISO
    Inferred from Sequence Orthology
    more info
     
    telomere maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    telomeric D-loop disassembly ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    PML body ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with PML body ISO
    Inferred from Sequence Orthology
    more info
     
    chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    colocalizes_with chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    lateral element ISO
    Inferred from Sequence Orthology
    more info
     
    male germ cell nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
     
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    pronucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    replication fork IDA
    Inferred from Direct Assay
    more info
    PubMed 
    replication fork IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    Bloom syndrome protein homolog
    Names
    Bloom syndrome homolog
    mBLM
    recQ helicase homolog
    NP_001035992.1
    NP_031576.4

    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
      ENSMUSP00000080062.4, OTTMUSP00000075152, ENSMUST00000081314.10, OTTMUST00000144131
      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
      ENSMUSP00000127995.1, OTTMUSP00000075153, ENSMUST00000170315.2, OTTMUST00000144132
      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 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000073.6 Reference GRCm38.p4 C57BL/6J

      Range
      80454993..80535147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321956.1XP_017177445.1  Bloom syndrome protein homolog isoform X1

    2. XM_017321957.1XP_017177446.1  Bloom syndrome protein homolog isoform X2

    RNA

    1. XR_001785468.1 RNA Sequence

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