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    RECQL RecQ like helicase [ Homo sapiens (human) ]

    Gene ID: 5965, updated on 11-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
    mouse all
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    Genomic context

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    See RECQL in Genome Data Viewer
    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 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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