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

Gene ID: 641, updated on 10-Dec-2024

Summary

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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
mouse all
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Genomic context

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See BLM in Genome Data Viewer
Location:
15q26.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (90717346..90816166)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (88475676..88575539)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. Wang Y, et al. DNA Repair (Amst), 2011 Apr 3. PMID 21300576, Free PMC Article
  2. Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. Ben Salah G, et al. J Eur Acad Dermatol Venereol, 2014 Oct. PMID 24118499
  3. A common nonsense mutation of the BLM gene and prostate cancer risk and survival. Antczak A, et al. Gene, 2013 Dec 15. PMID 24096176
  4. On BLM helicase in recombination-mediated telomere maintenance. Rezazadeh S. Mol Biol Rep, 2013 Apr. PMID 23268311
  5. Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. Prokofyeva D, et al. Breast Cancer Res Treat, 2013 Jan. PMID 23225144

See all (381) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RecQ helicase expression in patients with telomeropathies.
    Title: RecQ helicase expression in patients with telomeropathies.
  2. BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.
    Title: BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.
  3. A CK2 and SUMO-dependent, PML NB-involved regulatory mechanism controlling BLM ubiquitination and G-quadruplex resolution.
    Title: A CK2 and SUMO-dependent, PML NB-involved regulatory mechanism controlling BLM ubiquitination and G-quadruplex resolution.
  4. BLM helicase protein negatively regulates stress granule formation through unwinding RNA G-quadruplex structures.
    Title: BLM helicase protein negatively regulates stress granule formation through unwinding RNA G-quadruplex structures.
  5. PARP1 negatively regulates transcription of BLM through its interaction with HSP90AB1 in prostate cancer.
    Title: PARP1 negatively regulates transcription of BLM through its interaction with HSP90AB1 in prostate cancer.
  6. Bloom Syndrome Helicase Compresses Single-Stranded DNA into Phase-Separated Condensates.
    Title: Bloom Syndrome Helicase Compresses Single-Stranded DNA into Phase-Separated Condensates.
  7. Downregulation of BLM RecQ helicase inhibits proliferation, promotes the apoptosis and enhances the sensitivity of bladder cancer cells to cisplatin.
    Title: Downregulation of BLM RecQ helicase inhibits proliferation, promotes the apoptosis and enhances the sensitivity of bladder cancer cells to cisplatin.
  8. Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
    Title: Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
  9. Duplex DNA and BLM regulate gate opening by the human TopoIIIalpha-RMI1-RMI2 complex.
    Title: Duplex DNA and BLM regulate gate opening by the human TopoIIIα-RMI1-RMI2 complex.
  10. USP37 regulates DNA damage response through stabilizing and deubiquitinating BLM.
    Title: USP37 regulates DNA damage response through stabilizing and deubiquitinating BLM.
Submit: New GeneRIF Correction See all GeneRIFs (202)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bloom syndrome
MedGen: C0005859 OMIM: 210900 GeneReviews: Wilms Tumor Predisposition, Bloom Syndrome
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 IDA
Inferred from Direct Assay
more info
 PubMed 
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 H2AZ histone chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent H3-H4 histone complex chaperone 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 clamp loader activity IEA
Inferred from Electronic Annotation
more info
  
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 chromatin extrusion motor activity IEA
Inferred from Electronic Annotation
more info
  
enables cohesin loader activity IEA
Inferred from Electronic Annotation
more info
  
enables double-stranded DNA helicase activity IEA
Inferred from Electronic Annotation
more info
  
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 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 3'-5' DNA helicase activity IEA
Inferred from Electronic Annotation
more info
  
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 chromatin looping IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
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

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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)

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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_000057.4 → NP_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:1213 → 1292
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:657 → 1143
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:861 → 992
    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:669 → 841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372 → 409
    BDHCT; BDHCT (NUC031) domain
    pfam09382
    Location:1072 → 1189
    RQC; RQC domain
    pfam16124
    Location:997 → 1066
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16202
    Location:1 → 366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425 → 647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

  2. NM_001287246.2 → NP_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:1213 → 1292
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:657 → 1143
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:861 → 992
    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:669 → 841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372 → 409
    BDHCT; BDHCT (NUC031) domain
    pfam09382
    Location:1072 → 1189
    RQC; RQC domain
    pfam16124
    Location:997 → 1066
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16202
    Location:1 → 366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425 → 647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

  3. NM_001287247.2 → NP_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:657 → 1123
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    pfam08072
    Location:372 → 411
    BDHCT; BDHCT (NUC031) domain
    pfam16202
    Location:1 → 368
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425 → 647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
    cl02578
    Location:1109 → 1161
    HRDC; HRDC domain

  4. NM_001287248.2 → NP_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:838 → 917
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:282 → 768
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    pfam08072
    Location:1 → 36
    BDHCT; BDHCT (NUC031) domain
    pfam16204
    Location:50 → 272
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_011521882.4 → XP_011520184.1  recQ-like DNA helicase BLM isoform X2

    Conserved Domains (4) summary
    pfam00270
    Location:669 → 841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372 → 409
    BDHCT; BDHCT (NUC031) domain
    pfam16202
    Location:1 → 366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425 → 647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

  2. XM_047432934.1 → XP_047288890.1  recQ-like DNA helicase BLM isoform X1

    UniProtKB/TrEMBL
    B7ZKN7

  3. XM_006720632.3 → XP_006720695.1  recQ-like DNA helicase BLM isoform X3

    Conserved Domains (6) summary
    smart00341
    Location:559 → 638
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:3 → 489
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:207 → 338
    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:15 → 187
    DEAD; DEAD/DEAH box helicase
    pfam09382
    Location:418 → 535
    RQC; RQC domain
    pfam16124
    Location:343 → 412
    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_054378602.1 → XP_054234577.1  recQ-like DNA helicase BLM isoform X2

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

    UniProtKB/TrEMBL
    B7ZKN7

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54132.1 GenPept UniProtKB/Swiss-Prot:P54132

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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