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

    Gene ID: 9401, updated on 14-Apr-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RECQL4 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144511288..144517833, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145681054..145688017, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001413017.1NP_001399946.1  ATP-dependent DNA helicase Q4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    2. NM_001413018.1NP_001399947.1  ATP-dependent DNA helicase Q4 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    3. NM_001413019.1NP_001399948.1  ATP-dependent DNA helicase Q4 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    4. NM_001413020.1NP_001399949.1  ATP-dependent DNA helicase Q4 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    5. NM_001413021.1NP_001399950.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072
    6. NM_001413022.1NP_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_001413023.1NP_001399952.1  ATP-dependent DNA helicase Q4 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    8. NM_001413024.1NP_001399953.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072
    9. NM_001413025.1NP_001399954.1  ATP-dependent DNA helicase Q4 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    10. NM_001413027.1NP_001399956.1  ATP-dependent DNA helicase Q4 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    11. NM_001413028.1NP_001399957.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072
    12. NM_001413029.1NP_001399958.1  ATP-dependent DNA helicase Q4 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    13. NM_001413030.1NP_001399959.1  ATP-dependent DNA helicase Q4 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    14. NM_001413031.1NP_001399960.1  ATP-dependent DNA helicase Q4 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    15. NM_001413032.1NP_001399961.1  ATP-dependent DNA helicase Q4 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    16. NM_001413033.1NP_001399962.1  ATP-dependent DNA helicase Q4 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    17. NM_001413034.1NP_001399963.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072
    18. NM_001413035.1NP_001399964.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072
    19. NM_001413036.1NP_001399965.1  ATP-dependent DNA helicase Q4 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    20. NM_001413037.1NP_001399966.1  ATP-dependent DNA helicase Q4 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    21. NM_001413038.1NP_001399967.1  ATP-dependent DNA helicase Q4 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    22. NM_001413039.1NP_001399968.1  ATP-dependent DNA helicase Q4 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    23. NM_001413040.1NP_001399969.1  ATP-dependent DNA helicase Q4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
      UniProtKB/TrEMBL
      A0A087X072
    24. NM_001413041.1NP_001399970.1  ATP-dependent DNA helicase Q4 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    25. NM_001413042.1NP_001399971.1  ATP-dependent DNA helicase Q4 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    26. NM_001413043.1NP_001399972.1  ATP-dependent DNA helicase Q4 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC084125, KF495717
    27. NM_004260.4NP_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:673817
      SF2_C_RecQ; C-terminal helicase domain of the RecQ family helicases
      cd18018
      Location:470667
      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_2023_10

    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_047422438.1XP_047278394.1  ATP-dependent DNA helicase Q4 isoform X1

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

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

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

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

    6. XM_047422448.1XP_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_054361530.1XP_054217505.1  ATP-dependent DNA helicase Q4 isoform X1

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

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

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

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

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