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

    Gene ID: 9401, updated on 21-Apr-2018
    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; Vega:OTTHUMG00000165178
    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
    Location:
    8q24.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (144511284..144517828, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145736667..145743210, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928953 Neighboring gene glutamic--pyruvic transaminase Neighboring gene major facilitator superfamily domain containing 3 Neighboring gene leucine rich repeat containing 14 Neighboring gene leucine rich repeat containing 24 Neighboring gene chromosome 8 open reading frame 82

    • 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 Jun 15 11:32:44 2016

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    MedGen: C0032339 OMIM: 268400 GeneReviews: Rothmund-Thomson Syndrome
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP-dependent 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATP-dependent 3'-5' DNA helicase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    annealing helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bubble DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    four-way junction helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    oxidized purine DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    telomeric D-loop binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA duplex unwinding TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA strand renaturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    base-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomeric D-loop disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric D-loop disassembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane HDA PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    ATP-dependent DNA helicase Q4
    Names
    DNA helicase, RecQ-like, type 4
    RecQ helicase-like 4
    RecQ protein-like 4
    NP_004251.3
    XP_011515686.1
    XP_016869480.1
    XP_016869481.1
    XP_016869482.1
    XP_016869483.1
    XP_016869484.1
    XP_016869485.1
    XP_016869486.1
    XP_016869487.1
    XP_016869488.1
    XP_016869489.1
    XP_016869490.1

    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_016430.1 RefSeqGene

      Range
      5001..11543
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004260.3NP_004251.3  ATP-dependent DNA helicase Q4

      See identical proteins and their annotated locations for NP_004251.3

      Status: REVIEWED

      Source sequence(s)
      AB006532, BC013277, CN286057
      Consensus CDS
      CCDS75804.1
      UniProtKB/Swiss-Prot
      O94761
      Related
      ENSP00000482313.1, OTTHUMP00000276152, ENST00000617875.4, OTTHUMT00000382483
      Conserved Domains (3) summary
      smart00487
      Location:473656
      DEXDc; DEAD-like helicases superfamily
      cd00079
      Location:685817
      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:482646
      DEAD; DEAD/DEAH box helicase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      144511284..144517828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013994.2XP_016869483.1  ATP-dependent DNA helicase Q4 isoform X4

    2. XM_017013999.2XP_016869488.1  ATP-dependent DNA helicase Q4 isoform X9

    3. XM_017013995.2XP_016869484.1  ATP-dependent DNA helicase Q4 isoform X5

    4. XM_017013993.2XP_016869482.1  ATP-dependent DNA helicase Q4 isoform X3

    5. XM_017013997.2XP_016869486.1  ATP-dependent DNA helicase Q4 isoform X7

    6. XM_017013992.2XP_016869481.1  ATP-dependent DNA helicase Q4 isoform X2

    7. XM_017013991.2XP_016869480.1  ATP-dependent DNA helicase Q4 isoform X1

    8. XM_017014001.2XP_016869490.1  ATP-dependent DNA helicase Q4 isoform X12

      Related
      ENSP00000483145.1, OTTHUMP00000276151, ENST00000621189.4
    9. XM_017014000.1XP_016869489.1  ATP-dependent DNA helicase Q4 isoform X11

    10. XM_017013998.1XP_016869487.1  ATP-dependent DNA helicase Q4 isoform X8

    11. XM_011517384.3XP_011515686.1  ATP-dependent DNA helicase Q4 isoform X10

      Conserved Domains (2) summary
      smart00487
      Location:473656
      DEXDc; DEAD-like helicases superfamily
      pfam00270
      Location:482646
      DEAD; DEAD/DEAH box helicase
    12. XM_017013996.2XP_016869485.1  ATP-dependent DNA helicase Q4 isoform X6

    RNA

    1. XR_001745630.2 RNA Sequence

    2. XR_001745629.2 RNA Sequence

    3. XR_001745628.2 RNA Sequence

    4. XR_001745627.2 RNA Sequence

    5. XR_001745626.2 RNA Sequence

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