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    RECQL4 RecQ like helicase 4 [ Homo sapiens (human) ]

    Gene ID: 9401, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RECQL4provided by HGNC
    Official Full Name
    RecQ like helicase 4provided by HGNC
    Primary source
    HGNC:HGNC:9949
    See related
    Ensembl:ENSG00000160957 MIM:603780; AllianceGenome:HGNC:9949
    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
    RECQ4
    Summary
    The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
    Expression
    Broad expression in bone marrow (RPKM 7.0), testis (RPKM 7.0) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RECQL4 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144511288..144517833, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145681054..145688017, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145736671..145743217, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928953 Neighboring gene Sharpr-MPRA regulatory region 2015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145729171-145729831 Neighboring gene glutamic--pyruvic transaminase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145735245-145735868 Neighboring gene major facilitator superfamily domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145746055-145746717 Neighboring gene leucine rich repeat containing 14 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145747722-145747910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145749372-145750034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145750035-145750697 Neighboring gene leucine rich repeat containing 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145751430-145752286 Neighboring gene Sharpr-MPRA regulatory region 11949 Neighboring gene chromosome 8 open reading frame 82 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19706

    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 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. RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity. Croteau DL, et al. Biochim Biophys Acta, 2012 Nov. PMID 22885111, Free PMC Article
    2. DNA helicase activity in purified human RECQL4 protein. Suzuki T, et al. J Biochem, 2009 Sep. PMID 19451148
    3. Direct and indirect roles of RECQL4 in modulating base excision repair capacity. Schurman SH, et al. Hum Mol Genet, 2009 Sep 15. PMID 19567405, Free PMC Article
    4. The involvement of human RECQL4 in DNA double-strand break repair. Singh DK, et al. Aging Cell, 2010 Jun. PMID 20222902, Free PMC Article
    5. Baller-Gerold Syndrome. Adam MP, et al. , 1993. PMID 20301383

    See all (135) 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. RECQL4 is not critical for firing of human DNA replication origins.
      Title: RECQL4 is not critical for firing of human DNA replication origins.
    3. Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase.
      Title: Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase.
    4. Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
      Title: Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
    5. A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report.
      Title: A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report.
    6. TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway.
      Title: TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway.
    7. Cancer risk among RECQL4 heterozygotes.
      Title: Cancer risk among RECQL4 heterozygotes.
    8. Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
      Title: Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
    9. Role and Regulation of the RECQL4 Family during Genomic Integrity Maintenance.
      Title: Role and Regulation of the RECQL4 Family during Genomic Integrity Maintenance.
    10. UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair.
      Title: UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair.
    Submit: New GeneRIF Correction See all GeneRIFs (91)

    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
    Baller-Gerold syndrome
    MedGen: C0265308 OMIM: 218600 GeneReviews: Baller-Gerold Syndrome
    		Compare labs
    Rapadilino syndrome
    MedGen: C1849453 OMIM: 266280 GeneReviews: Not available
    		Compare labs
    Rothmund-Thomson syndrome type 2
    MedGen: C5203410 OMIM: 268400 GeneReviews: Rothmund-Thomson Syndrome
    		Compare labs

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog

    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

    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
    NOT enables 3'-5' DNA helicase activity IMP
    Inferred from Mutant Phenotype
    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/DNA annealing activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables bubble 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 helicase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidized purine DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables telomeric D-loop binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA duplex unwinding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in DNA replication IMP
    Inferred from Mutant Phenotype
    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 telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in telomeric D-loop disassembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in telomeric D-loop disassembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ATP-dependent DNA helicase Q4
    Names
    DNA 3'-5' helicase RecQ4
    DNA helicase, RecQ-like, type 4
    RecQ helicase-like 4
    RecQ protein-like 4
    NP_001399946.1
    NP_001399947.1
    NP_001399948.1
    NP_001399949.1
    NP_001399950.1
    NP_001399951.1
    NP_001399952.1
    NP_001399953.1
    NP_001399954.1
    NP_001399956.1
    NP_001399957.1
    NP_001399958.1
    NP_001399959.1
    NP_001399960.1
    NP_001399961.1
    NP_001399962.1
    NP_001399963.1
    NP_001399964.1
    NP_001399965.1
    NP_001399966.1
    NP_001399967.1
    NP_001399968.1
    NP_001399969.1
    NP_001399970.1
    NP_001399971.1
    NP_001399972.1
    NP_004251.4
    XP_047278394.1
    XP_047278396.1
    XP_047278397.1
    XP_047278399.1
    XP_047278400.1
    XP_047278404.1
    XP_054217505.1
    XP_054217506.1
    XP_054217507.1
    XP_054217508.1
    XP_054217509.1
    XP_054217510.1

    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_016430.2 RefSeqGene

      Range
      4994..11539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_277

    mRNA and Protein(s)

    1. NM_001413017.1 → NP_001399946.1  ATP-dependent DNA helicase Q4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    2. NM_001413018.1 → NP_001399947.1  ATP-dependent DNA helicase Q4 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    3. NM_001413019.1 → NP_001399948.1  ATP-dependent DNA helicase Q4 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    4. NM_001413020.1 → NP_001399949.1  ATP-dependent DNA helicase Q4 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    5. NM_001413021.1 → NP_001399950.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072

    6. NM_001413022.1 → NP_001399951.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072
      Related
      ENSP00000483145.1, ENST00000621189.4

    7. NM_001413023.1 → NP_001399952.1  ATP-dependent DNA helicase Q4 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    8. NM_001413024.1 → NP_001399953.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072

    9. NM_001413025.1 → NP_001399954.1  ATP-dependent DNA helicase Q4 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    10. NM_001413027.1 → NP_001399956.1  ATP-dependent DNA helicase Q4 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    11. NM_001413028.1 → NP_001399957.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072

    12. NM_001413029.1 → NP_001399958.1  ATP-dependent DNA helicase Q4 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    13. NM_001413030.1 → NP_001399959.1  ATP-dependent DNA helicase Q4 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    14. NM_001413031.1 → NP_001399960.1  ATP-dependent DNA helicase Q4 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    15. NM_001413032.1 → NP_001399961.1  ATP-dependent DNA helicase Q4 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    16. NM_001413033.1 → NP_001399962.1  ATP-dependent DNA helicase Q4 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    17. NM_001413034.1 → NP_001399963.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072

    18. NM_001413035.1 → NP_001399964.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072

    19. NM_001413036.1 → NP_001399965.1  ATP-dependent DNA helicase Q4 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    20. NM_001413037.1 → NP_001399966.1  ATP-dependent DNA helicase Q4 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    21. NM_001413038.1 → NP_001399967.1  ATP-dependent DNA helicase Q4 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    22. NM_001413039.1 → NP_001399968.1  ATP-dependent DNA helicase Q4 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    23. NM_001413040.1 → NP_001399969.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072

    24. NM_001413041.1 → NP_001399970.1  ATP-dependent DNA helicase Q4 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    25. NM_001413042.1 → NP_001399971.1  ATP-dependent DNA helicase Q4 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    26. NM_001413043.1 → NP_001399972.1  ATP-dependent DNA helicase Q4 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    27. NM_004260.4 → NP_004251.4  ATP-dependent DNA helicase Q4 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      Consensus CDS
      CCDS75804.1
      UniProtKB/Swiss-Prot
      A0A087WZ30, O94761, Q3Y424, Q96DW2, Q96F55
      UniProtKB/TrEMBL
      X2JEV0
      Related
      ENSP00000482313.2, ENST00000617875.6
      Conserved Domains (2) summary
      cd18794
      Location:673 → 817
      SF2_C_RecQ; C-terminal helicase domain of the RecQ family helicases
      cd18018
      Location:470 → 667
      DEXHc_RecQ4-like; DEAH-box helicase domain of RecQ4 and similar proteins

    RNA

    1. NR_182090.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    2. NR_182091.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    3. NR_182092.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144511288..144517833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422438.1 → XP_047278394.1  ATP-dependent DNA helicase Q4 isoform X1

    2. XM_047422440.1 → XP_047278396.1  ATP-dependent DNA helicase Q4 isoform X2

    3. XM_047422441.1 → XP_047278397.1  ATP-dependent DNA helicase Q4 isoform X3

    4. XM_047422443.1 → XP_047278399.1  ATP-dependent DNA helicase Q4 isoform X4

    5. XM_047422444.1 → XP_047278400.1  ATP-dependent DNA helicase Q4 isoform X5

    6. XM_047422448.1 → XP_047278404.1  ATP-dependent DNA helicase Q4 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145681054..145688017 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361530.1 → XP_054217505.1  ATP-dependent DNA helicase Q4 isoform X1

    2. XM_054361531.1 → XP_054217506.1  ATP-dependent DNA helicase Q4 isoform X2

    3. XM_054361532.1 → XP_054217507.1  ATP-dependent DNA helicase Q4 isoform X3

    4. XM_054361533.1 → XP_054217508.1  ATP-dependent DNA helicase Q4 isoform X4

    5. XM_054361534.1 → XP_054217509.1  ATP-dependent DNA helicase Q4 isoform X5

    6. XM_054361535.1 → XP_054217510.1  ATP-dependent DNA helicase Q4 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94761.2 GenPept UniProtKB/Swiss-Prot:O94761

    Gene LinkOut

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

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