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    BLM Bloom syndrome RecQ like helicase [ Homo sapiens (human) ]

    Gene ID: 641, updated on 22-Apr-2017
    Official Symbol
    BLMprovided by HGNC
    Official Full Name
    Bloom syndrome RecQ like helicaseprovided by HGNC
    Primary source
    HGNC:HGNC:1058
    See related
    Ensembl:ENSG00000197299 MIM:604610; Vega:OTTHUMG00000149834
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BS; RECQ2; RECQL2; RECQL3
    Summary
    The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    15q26.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (90717327..90815462)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91260579..91358686)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CREB regulated transcription coactivator 3 Neighboring gene CRTC3 antisense RNA 1 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 1585 Neighboring gene uncharacterized LOC105370969 Neighboring gene RNA, 7SL, cytoplasmic 363, pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of Bloom syndrome, RecQ helicase-like (BLM) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), conserved biosystemStructural complex; Genetic information processing; Repair system
    • Bloom's syndrome complex, organism-specific biosystem (from KEGG)
      Bloom's syndrome complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • Bloom's syndrome complex, conserved biosystem (from KEGG)
      Bloom's syndrome complex, conserved biosystemStructural complex; Genetic information processing; Repair system
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
    • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
      Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
    • Homologous recombination, organism-specific biosystem (from KEGG)
      Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homologous recombination, conserved biosystem (from KEGG)
      Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrated Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Cancer Pathway, organism-specific biosystem
      Integrated Cancer Pathway
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic recombination, organism-specific biosystem (from REACTOME)
      Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
      Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
    • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
      Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
      Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
    • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
    • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
    • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
      SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
    • SUMOylation, organism-specific biosystem (from REACTOME)
      SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
    • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
      SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC126616, MGC131618, MGC131620

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP-dependent 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATP-dependent DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP-dependent DNA helicase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ATP-dependent helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    G-quadruplex DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Y-form DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    annealing helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bubble DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    forked DNA-dependent helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    four-way junction helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidized purine DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric D-loop binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric G-quadruplex DNA binding IC
    Inferred by Curator
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA double-strand break processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    DNA replication TAS
    Traceable Author Statement
    more info
     
    DNA strand renaturation IEA
    Inferred from Electronic Annotation
    more info
     
    DNA synthesis involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    G-quadruplex DNA unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    G-quadruplex DNA unwinding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to camptothecin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to hydroxyurea IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    double-strand break repair via homologous recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    mitotic G2 DNA damage checkpoint IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of DNA recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cyclin-dependent protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    replication fork processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    replication fork protection NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to X-ray IDA
    Inferred from Direct Assay
    more info
    PubMed 
    strand displacement TAS
    Traceable Author Statement
    more info
     
    t-circle formation TAS
    Traceable Author Statement
    more info
    PubMed 
    telomeric D-loop disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    lateral element IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    replication fork ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    Bloom syndrome protein
    Names
    Bloom syndrome, RecQ helicase-like
    DNA helicase, RecQ-like type 2
    recQ protein-like 3
    NP_000048.1
    NP_001274175.1
    NP_001274176.1
    NP_001274177.1

    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.

    Genomic

    1. NG_007272.1 RefSeqGene

      Range
      4957..103091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_20

    mRNA and Protein(s)

    1. NM_000057.3NP_000048.1  Bloom syndrome protein isoform 1

      See identical proteins and their annotated locations for NP_000048.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC124248, BC034480, BC062697, BC115030, CD707743, U39817
      Consensus CDS
      CCDS10363.1
      UniProtKB/Swiss-Prot
      P54132
      Related
      ENSP00000347232.3, OTTHUMP00000194750, ENST00000355112.7, OTTHUMT00000313495
      Conserved Domains (9) summary
      smart00341
      Location:12131292
      HRDC; Helicase and RNase D C-terminal
      TIGR00614
      Location:6571143
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00079
      Location:861992
      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:669841
      DEAD; DEAD/DEAH box helicase
      pfam08072
      Location:372409
      BDHCT; BDHCT (NUC031) domain
      pfam09382
      Location:10721189
      RQC; RQC domain
      pfam16124
      Location:9971066
      RecQ_Zn_bind; RecQ zinc-binding
      pfam16202
      Location:1366
      BLM_N; N-terminal region of Bloom syndrome protein
      pfam16204
      Location:425647
      BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
    2. NM_001287246.1NP_001274175.1  Bloom syndrome protein isoform 1

      See identical proteins and their annotated locations for NP_001274175.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC124248, BC115032, BC143288, BP363946, CD707743, DB520927
      Consensus CDS
      CCDS10363.1
      UniProtKB/Swiss-Prot
      P54132
      Conserved Domains (9) summary
      smart00341
      Location:12131292
      HRDC; Helicase and RNase D C-terminal
      TIGR00614
      Location:6571143
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00079
      Location:861992
      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:669841
      DEAD; DEAD/DEAH box helicase
      pfam08072
      Location:372409
      BDHCT; BDHCT (NUC031) domain
      pfam09382
      Location:10721189
      RQC; RQC domain
      pfam16124
      Location:9971066
      RecQ_Zn_bind; RecQ zinc-binding
      pfam16202
      Location:1366
      BLM_N; N-terminal region of Bloom syndrome protein
      pfam16204
      Location:425647
      BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
    3. NM_001287247.1NP_001274176.1  Bloom syndrome protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC124248, BC062697, BC101567, BC115028, CD707743, DB520927
      Consensus CDS
      CCDS73782.1
      UniProtKB/Swiss-Prot
      P54132
      UniProtKB/TrEMBL
      H0YNU5
      Related
      ENSP00000454158.1, OTTHUMP00000248161, ENST00000560509.5, OTTHUMT00000417940
      Conserved Domains (8) summary
      TIGR00614
      Location:6571123
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00079
      Location:861992
      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:669841
      DEAD; DEAD/DEAH box helicase
      pfam08072
      Location:372409
      BDHCT; BDHCT (NUC031) domain
      pfam16124
      Location:9971066
      RecQ_Zn_bind; RecQ zinc-binding
      pfam16202
      Location:1366
      BLM_N; N-terminal region of Bloom syndrome protein
      pfam16204
      Location:425647
      BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
      cl02578
      Location:11091161
      HRDC; HRDC domain
    4. NM_001287248.1NP_001274177.1  Bloom syndrome protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in a 5' exon and uses a downstream translation start compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC021422, AC124248, BC062697, BC115032, BC143280, CD707743, DA122319, DB520927
      UniProtKB/Swiss-Prot
      P54132
      UniProtKB/TrEMBL
      B7ZKN7
      Conserved Domains (8) summary
      smart00341
      Location:838917
      HRDC; Helicase and RNase D C-terminal
      TIGR00614
      Location:282768
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00079
      Location:486617
      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:294466
      DEAD; DEAD/DEAH box helicase
      pfam08072
      Location:134
      BDHCT; BDHCT (NUC031) domain
      pfam09382
      Location:697814
      RQC; RQC domain
      pfam16124
      Location:622691
      RecQ_Zn_bind; RecQ zinc-binding
      pfam16204
      Location:50272
      BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      90717327..90815462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521882.2XP_011520184.1  Bloom syndrome protein isoform X1

      Conserved Domains (4) summary
      pfam00270
      Location:669841
      DEAD; DEAD/DEAH box helicase
      pfam08072
      Location:372409
      BDHCT; BDHCT (NUC031) domain
      pfam16202
      Location:1366
      BLM_N; N-terminal region of Bloom syndrome protein
      pfam16204
      Location:425647
      BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
    2. XM_011521881.2XP_011520183.1  Bloom syndrome protein isoform X2

      Conserved Domains (7) summary
      smart00341
      Location:775854
      HRDC; Helicase and RNase D C-terminal
      TIGR00614
      Location:219705
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00079
      Location:423554
      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:231403
      DEAD; DEAD/DEAH box helicase
      pfam09382
      Location:634751
      RQC; RQC domain
      pfam16124
      Location:559628
      RecQ_Zn_bind; RecQ zinc-binding
      pfam16204
      Location:1209
      BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
    3. XM_006720632.2XP_006720695.1  Bloom syndrome protein isoform X3

      Conserved Domains (6) summary
      smart00341
      Location:559638
      HRDC; Helicase and RNase D C-terminal
      TIGR00614
      Location:3489
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00079
      Location:207338
      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:15187
      DEAD; DEAD/DEAH box helicase
      pfam09382
      Location:418535
      RQC; RQC domain
      pfam16124
      Location:343412
      RecQ_Zn_bind; RecQ zinc-binding

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      91102285..91200349
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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