U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 641, updated on 12-May-2024

    Summary

    Official Symbol
    BLMprovided by HGNC
    Official Full Name
    BLM RecQ like helicaseprovided by HGNC
    Primary source
    HGNC:HGNC:1058
    See related
    Ensembl:ENSG00000197299 MIM:604610; AllianceGenome:HGNC:1058
    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; MGRISCE1
    Summary
    The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
    Expression
    Biased expression in salivary gland (RPKM 10.0), lymph node (RPKM 3.9) 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:
    15q26.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (90717346..90816166)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (88475676..88575539)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91260577..91359396)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CREB regulated transcription coactivator 3 Neighboring gene CRTC3 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:91183956-91185155 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:91189835-91190018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10083 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:91203621-91204149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6826 Neighboring gene long intergenic non-protein coding RNA 1585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10089 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:91226288-91226788 Neighboring gene small nucleolar RNA SNORD18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:91359631-91360462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:91360463-91361292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:91368815-91369414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10090 Neighboring gene uncharacterized LOC105370969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:91383569-91384223 Neighboring gene Sharpr-MPRA regulatory region 4312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:91388069-91388685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10093 Neighboring gene RNA, 7SL, cytoplasmic 363, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126616, MGC131618, MGC131620

    Gene Ontology Provided by GOA

    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 TAS
    Traceable Author Statement
    more info
     
    enables 8-hydroxy-2'-deoxyguanosine DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent activity, acting on DNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA helicase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA/DNA annealing activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables G-quadruplex DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables Y-form DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables bubble DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables forked DNA-dependent helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables four-way junction helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables four-way junction helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular function activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric D-loop binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric G-quadruplex DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA double-strand break processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in DNA repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in G-quadruplex DNA unwinding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to camptothecin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to hydroxyurea IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to ionizing radiation IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitotic G2 DNA damage checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein complex oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cyclin-dependent protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in replication fork processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in resolution of DNA recombination intermediates IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to X-ray IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in t-circle formation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in telomere maintenance via semi-conservative replication TAS
    Traceable Author Statement
    more info
     
    involved_in telomeric D-loop disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of RecQ family helicase-topoisomerase III complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in lateral element IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in replication fork ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    recQ-like DNA helicase BLM
    Names
    Bloom syndrome RecQ like helicase
    Bloom syndrome, RecQ helicase-like
    DNA 3'-5' helicase BLM
    DNA helicase, RecQ-like type 2
    bloom syndrome protein
    recQ protein-like 3
    NP_000048.1
    NP_001274175.1
    NP_001274176.1
    NP_001274177.1
    XP_006720695.1
    XP_011520184.1
    XP_047288890.1
    XP_054234576.1
    XP_054234577.1
    XP_054234578.1

    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.

    Genomic

    1. NG_007272.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000057.4NP_000048.1  recQ-like DNA helicase BLM 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, Q52M96
      UniProtKB/TrEMBL
      B2RAN0
      Related
      ENSP00000347232.3, ENST00000355112.8
      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_001287246.2NP_001274175.1  recQ-like DNA helicase BLM 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, Q52M96
      UniProtKB/TrEMBL
      B2RAN0
      Related
      ENSP00000506117.1, ENST00000680772.1
      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_001287247.2NP_001274176.1  recQ-like DNA helicase BLM 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/TrEMBL
      B2RAN0, H0YNU5
      Related
      ENSP00000454158.1, ENST00000560509.5
      Conserved Domains (5) summary
      TIGR00614
      Location:6571123
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      pfam08072
      Location:372411
      BDHCT; BDHCT (NUC031) domain
      pfam16202
      Location:1368
      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_001287248.2NP_001274177.1  recQ-like DNA helicase BLM 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/TrEMBL
      B7ZKN7
      Conserved Domains (4) summary
      smart00341
      Location:838917
      HRDC; Helicase and RNase D C-terminal
      TIGR00614
      Location:282768
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      pfam08072
      Location:136
      BDHCT; BDHCT (NUC031) domain
      pfam16204
      Location:50272
      BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      90717346..90816166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521882.4XP_011520184.1  recQ-like DNA helicase BLM isoform X2

      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_047432934.1XP_047288890.1  recQ-like DNA helicase BLM isoform X1

    3. XM_006720632.3XP_006720695.1  recQ-like DNA helicase BLM 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 T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      88475676..88575539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378602.1XP_054234577.1  recQ-like DNA helicase BLM isoform X2

    2. XM_054378601.1XP_054234576.1  recQ-like DNA helicase BLM isoform X1

    3. XM_054378603.1XP_054234578.1  recQ-like DNA helicase BLM isoform X3