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    RECQL RecQ like helicase [ Homo sapiens (human) ]

    Gene ID: 5965, updated on 15-Jun-2016
    Official Symbol
    RECQLprovided by HGNC
    Official Full Name
    RecQ like helicaseprovided by HGNC
    Primary source
    HGNC:HGNC:9948
    See related
    Ensembl:ENSG00000004700 HPRD:02762; MIM:600537; Vega:OTTHUMG00000169131
    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
    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. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    12p12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (21468910..21501669, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21621844..21654603, 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 pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene transcription elongation factor B subunit 1 pseudogene 31 Neighboring gene golgi transport 1B Neighboring gene spexin hormone

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATP-dependent DNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    annealing helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    four-way junction helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA strand renaturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    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

    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_002907.3NP_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
      P46063
      UniProtKB/TrEMBL
      A0A024RAV2
      Related
      ENSP00000416739, OTTHUMP00000240142, ENST00000444129, OTTHUMT00000402371
      Conserved Domains (4) summary
      TIGR00614
      Location:81543
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00046
      Location:107256
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:285417
      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 ...
      cl09632
      Location:488577
      RQC; RQC domain
    2. NM_032941.2NP_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, DA547846, T94514
      Consensus CDS
      CCDS31756.1
      UniProtKB/Swiss-Prot
      P46063
      UniProtKB/TrEMBL
      A0A024RAV2
      Related
      ENSP00000395449, OTTHUMP00000240143, ENST00000421138, OTTHUMT00000402372
      Conserved Domains (4) summary
      TIGR00614
      Location:81543
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00046
      Location:107256
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:285417
      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 ...
      cl09632
      Location:488577
      RQC; RQC domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      21468910..21501669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253461.3XP_005253518.1  

      See identical proteins and their annotated locations for XP_005253518.1

      UniProtKB/Swiss-Prot
      P46063
      UniProtKB/TrEMBL
      A0A024RAV2
      Conserved Domains (4) summary
      TIGR00614
      Location:81543
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00046
      Location:107256
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:285417
      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 ...
      cl09632
      Location:488577
      RQC; RQC domain
    2. XM_005253464.3XP_005253521.1  

      See identical proteins and their annotated locations for XP_005253521.1

      UniProtKB/Swiss-Prot
      P46063
      UniProtKB/TrEMBL
      A0A024RAV2
      Conserved Domains (4) summary
      TIGR00614
      Location:81543
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00046
      Location:107256
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:285417
      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 ...
      cl09632
      Location:488577
      RQC; RQC domain
    3. XM_005253463.3XP_005253520.1  

      See identical proteins and their annotated locations for XP_005253520.1

      UniProtKB/Swiss-Prot
      P46063
      UniProtKB/TrEMBL
      A0A024RAV2
      Conserved Domains (4) summary
      TIGR00614
      Location:81543
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00046
      Location:107256
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:285417
      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 ...
      cl09632
      Location:488577
      RQC; RQC domain
    4. XM_005253462.4XP_005253519.1  

      See identical proteins and their annotated locations for XP_005253519.1

      UniProtKB/Swiss-Prot
      P46063
      UniProtKB/TrEMBL
      A0A024RAV2
      Conserved Domains (4) summary
      TIGR00614
      Location:81543
      recQ_fam; ATP-dependent DNA helicase, RecQ family
      cd00046
      Location:107256
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:285417
      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 ...
      cl09632
      Location:488577
      RQC; RQC domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      21587472..21620203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)