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

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RecQ helicase expression in patients with telomeropathies.
Title: RecQ helicase expression in patients with telomeropathies.
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.
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.
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.
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.
Bloom Syndrome Helicase Compresses Single-Stranded DNA into Phase-Separated Condensates.
Title: Bloom Syndrome Helicase Compresses Single-Stranded DNA into Phase-Separated Condensates.
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.
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Title: Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
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.
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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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A008V47 (e-PCR)
- UniSTS:59667

WI-16966 (e-PCR)
- UniSTS:28991

RH18053 (e-PCR)
- UniSTS:54340

D15S834 (e-PCR)
- UniSTS:29031

STS-T99721 (e-PCR)
- UniSTS:80808

D15S1129 (e-PCR)
- UniSTS:154550

D15S1144 (e-PCR)
- UniSTS:154577

D15S1145 (e-PCR)
- UniSTS:154578

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

EC 5.6.2.4

NP_001274175.1

EC 5.6.2.4

NP_001274176.1

EC 5.6.2.4

NP_001274177.1

EC 5.6.2.4

XP_006720695.1

EC 5.6.2.4

XP_011520184.1

EC 5.6.2.4

XP_047288890.1

EC 5.6.2.4

XP_054234576.1

EC 5.6.2.4

XP_054234577.1

EC 5.6.2.4

XP_054234578.1

EC 5.6.2.4

NCBI Reference Sequences (RefSeq)

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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

NG_007272.1 RefSeqGene

Range

4957..103091

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_20

mRNA and Protein(s)

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
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
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
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

90717346..90816166

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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