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RECQL RecQ like helicase [ Homo sapiens (human) ]

Gene ID: 5965, updated on 20-Apr-2024

Summary

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Official Symbol
RECQLprovided by HGNC
Official Full Name
RecQ like helicaseprovided by HGNC
Primary source
HGNC:HGNC:9948
See related
Ensembl:ENSG00000004700 MIM:600537; AllianceGenome:HGNC:9948
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
RECON; RecQ1; RECQL1
Summary
The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
Expression
Ubiquitous expression in lymph node (RPKM 20.4), appendix (RPKM 19.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12p12.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21468910..21501635, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21347594..21380648, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21621844..21654569, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family member 1A2 Neighboring gene islet amyloid polypeptide Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21546997-21547930 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21547931-21548862 Neighboring gene NANOG hESC enhancer GRCh37_chr12:21569666-21570167 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21572391-21572952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6087 Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene elongin C pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6090 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21654373-21655080 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21655081-21655788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6092 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:21663989-21664186 Neighboring gene golgi transport 1B Neighboring gene spexin hormone Neighboring gene glycogen synthase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Genome-wide investigations on regulatory functions of RECQ1 helicase. Debnath S, et al. Methods, 2022 Aug. PMID 35231585, Free PMC Article
  2. RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1. Abu-Libdeh B, et al. J Clin Invest, 2022 Mar 1. PMID 35025765, Free PMC Article
  3. Residues at the interface between zinc binding and winged helix domains of human RECQ1 play a significant role in DNA strand annealing activity. Mukhopadhyay S, et al. Nucleic Acids Res, 2021 Nov 18. PMID 34751402, Free PMC Article
  4. Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells. Lu X, et al. Mol Cell Biol, 2021 Mar 24. PMID 33468559, Free PMC Article
  5. The RECQL helicase prevents replication fork collapse during replication stress. Benedict B, et al. Life Sci Alliance, 2020 Oct. PMID 32820027, Free PMC Article

See all (139) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genome-wide investigations on regulatory functions of RECQ1 helicase.
    Title: Genome-wide investigations on regulatory functions of RECQ1 helicase.
  2. RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
    Title: RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
  3. Residues at the interface between zinc binding and winged helix domains of human RECQ1 play a significant role in DNA strand annealing activity.
    Title: Residues at the interface between zinc binding and winged helix domains of human RECQ1 play a significant role in DNA strand annealing activity.
  4. The RECQL helicase prevents replication fork collapse during replication stress.
    Title: The RECQL helicase prevents replication fork collapse during replication stress.
  5. Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells.
    Title: Genome-Wide Analysis Unveils DNA Helicase RECQ1 as a Regulator of Estrogen Response Pathway in Breast Cancer Cells.
  6. RECQ1 Helicase in Genomic Stability and Cancer.
    Title: RECQ1 Helicase in Genomic Stability and Cancer.
  7. RECQL5 plays an essential role in maintaining genome stability and viability of triple-negative breast cancer cells.
    Title: RECQL5 plays an essential role in maintaining genome stability and viability of triple-negative breast cancer cells.
  8. Dual deficiency of MUS81 structure-specific endonuclease subunit (MUS81) and RECQ1 increased gemcitabine-induced, replication-associated DNA double-stranded breaks.
    Title: The DNA repair helicase RECQ1 has a checkpoint-dependent role in mediating DNA damage responses induced by gemcitabine.
  9. EXD2 deficiency leads to fork collapse, hypersensitivity to replication inhibitors, and genomic instability. Impeding fork regression by inactivation of SMARCAL1 or removal of RECQ1's inhibition in EXD2(-/-) cells restores efficient fork restart and genome stability. Moreover, purified EXD2 efficiently processes substrates mimicking regressed forks.
    Title: EXD2 Protects Stressed Replication Forks and Is Required for Cell Viability in the Absence of BRCA1/2.
  10. RECQL plays an important role in DNA repair, and is a plausible candidate breast cancer susceptibility gene. Initial studies showed evidence of an association between variants in this gene and an increased breast cancer risk in three separate populations, and identified founder mutations with significantly increased odds ratios. [review]
    Title: Clinical implications of germline mutations in breast cancer genes: RECQL.
Submit: New GeneRIF Correction See all GeneRIFs (64)

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
RECON progeroid syndrome
MedGen: C5830504 OMIM: 620370 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pol gag-pol HIV-1 Pol is identified to have a physical interaction with RecQ protein-like (DNA helicase Q1-like) (RECQL) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Rev rev HIV-1 Rev interacting protein, RecQ protein-like (RECQL), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with RECQL is increased by RRE 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

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 ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA/DNA annealing activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables double-stranded DNA helicase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables four-way junction helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA repair TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA unwinding involved in DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in replication fork processing IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in chromosome IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ATP-dependent DNA helicase Q1
Names
DNA 3'-5' helicase Q1
DNA helicase, RecQ-like type 1
DNA-dependent ATPase Q1
RecQ helicase-like
RecQ protein-like (DNA helicase Q1-like)
recQ protein-like 1
NP_002898.2
NP_116559.1
XP_005253518.1
XP_005253519.1
XP_005253520.1
XP_005253521.1
XP_047285255.1
XP_047285256.1
XP_054228795.1
XP_054228796.1
XP_054228797.1
XP_054228798.1
XP_054228799.1
XP_054228800.1

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.

mRNA and Protein(s)

  1. NM_002907.4 → NP_002898.2  ATP-dependent DNA helicase Q1

    See identical proteins and their annotated locations for NP_002898.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK291627, CA431135, CN414472, CX784110, D37984, DA547846, T94514
    Consensus CDS
    CCDS31756.1
    UniProtKB/Swiss-Prot
    A8K6G2, P46063
    Related
    ENSP00000416739.2, ENST00000444129.7
    Conserved Domains (5) summary
    TIGR00614
    Location:81 → 543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285 → 417
    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:93 → 258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422 → 478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484 → 582
    RQC; RQC domain

  2. NM_032941.3 → NP_116559.1  ATP-dependent DNA helicase Q1

    See identical proteins and their annotated locations for NP_116559.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment of 5' UTR sequence, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC001052, CA431135, CX784110, D37984, DA028052, T94514
    Consensus CDS
    CCDS31756.1
    UniProtKB/Swiss-Prot
    A8K6G2, P46063
    Related
    ENSP00000395449.2, ENST00000421138.6
    Conserved Domains (5) summary
    TIGR00614
    Location:81 → 543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285 → 417
    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:93 → 258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422 → 478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484 → 582
    RQC; RQC domain

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    21468910..21501635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429300.1 → XP_047285256.1  ATP-dependent DNA helicase Q1 isoform X1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063

  2. XM_047429299.1 → XP_047285255.1  ATP-dependent DNA helicase Q1 isoform X1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063

  3. XM_005253464.5 → XP_005253521.1  ATP-dependent DNA helicase Q1 isoform X1

    See identical proteins and their annotated locations for XP_005253521.1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063
    Conserved Domains (5) summary
    TIGR00614
    Location:81 → 543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285 → 417
    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:93 → 258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422 → 478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484 → 582
    RQC; RQC domain

  4. XM_005253462.6 → XP_005253519.1  ATP-dependent DNA helicase Q1 isoform X1

    See identical proteins and their annotated locations for XP_005253519.1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063
    Conserved Domains (5) summary
    TIGR00614
    Location:81 → 543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285 → 417
    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:93 → 258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422 → 478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484 → 582
    RQC; RQC domain

  5. XM_005253461.4 → XP_005253518.1  ATP-dependent DNA helicase Q1 isoform X1

    See identical proteins and their annotated locations for XP_005253518.1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063
    Conserved Domains (5) summary
    TIGR00614
    Location:81 → 543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285 → 417
    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:93 → 258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422 → 478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484 → 582
    RQC; RQC domain

  6. XM_005253463.5 → XP_005253520.1  ATP-dependent DNA helicase Q1 isoform X1

    See identical proteins and their annotated locations for XP_005253520.1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063
    Conserved Domains (5) summary
    TIGR00614
    Location:81 → 543
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:285 → 417
    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:93 → 258
    DEAD; DEAD/DEAH box helicase
    pfam16124
    Location:422 → 478
    RecQ_Zn_bind; RecQ zinc-binding
    cl09632
    Location:484 → 582
    RQC; RQC domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    21347594..21380648 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372825.1 → XP_054228800.1  ATP-dependent DNA helicase Q1 isoform X1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063

  2. XM_054372821.1 → XP_054228796.1  ATP-dependent DNA helicase Q1 isoform X1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063

  3. XM_054372824.1 → XP_054228799.1  ATP-dependent DNA helicase Q1 isoform X1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063

  4. XM_054372823.1 → XP_054228798.1  ATP-dependent DNA helicase Q1 isoform X1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063

  5. XM_054372820.1 → XP_054228795.1  ATP-dependent DNA helicase Q1 isoform X1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063

  6. XM_054372822.1 → XP_054228797.1  ATP-dependent DNA helicase Q1 isoform X1

    UniProtKB/Swiss-Prot
    A8K6G2, P46063
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P46063.3 GenPept UniProtKB/Swiss-Prot:P46063

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