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    RECQL4 RecQ protein-like 4 [ Homo sapiens (human) ]

    Gene ID: 9401, updated on 27-Jun-2015
    Official Symbol
    RECQL4provided by HGNC
    Official Full Name
    RecQ protein-like 4provided by HGNC
    Primary source
    HGNC:HGNC:9949
    See related
    Ensembl:ENSG00000160957; HPRD:04805; 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]
    Orthologs
    See RECQL4 in Epigenomics, MapViewer
    Location:
    8q24.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (144511284..144517827, 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 LOC105375802 Neighboring gene glutamic-pyruvate transaminase (alanine aminotransferase) 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Baller-Gerold syndrome
    MedGen: C0265308 OMIM: 218600 GeneReviews: Baller-Gerold Syndrome
    not available
    Rapadilino syndrome
    MedGen: C1849453 OMIM: 266280 GeneReviews: Not available
    not available
    Rothmund-Thomson syndrome
    MedGen: C0032339 OMIM: 268400 GeneReviews: Rothmund-Thomson Syndrome
    not available

    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    annealing helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bubble DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA strand renaturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    multicellular organismal development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ATP-dependent DNA helicase Q4
    Names
    ATP-dependent DNA helicase Q4
    DNA helicase, RecQ-like type 4
    DNA helicase, RecQ-like, type 4
    NP_004251.3

    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, OTTHUMP00000276152, ENST00000617875, OTTHUMT00000382483
      Conserved Domains (3) summary
      smart00487
      Location:473656
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:497643
      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: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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

      Range
      144511284..144517827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517381.1XP_011515683.1  

      Conserved Domains (3) summary
      smart00487
      Location:441624
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:465611
      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:653785
      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 ...
    2. XM_011517384.1XP_011515686.1  

      Conserved Domains (2) summary
      smart00487
      Location:473656
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:497643
      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.
    3. XM_011517383.1XP_011515685.1  

      Conserved Domains (2) summary
      smart00487
      Location:473656
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:497643
      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.
    4. XM_011517382.1XP_011515684.1  

      Conserved Domains (2) summary
      smart00487
      Location:473656
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:497643
      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.
    5. XM_011517380.1XP_011515682.1  

      Conserved Domains (3) summary
      smart00487
      Location:473656
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:497643
      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: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 ...
    6. XM_011517385.1XP_011515687.1  

      Conserved Domains (3) summary
      smart00487
      Location:94277
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:118264
      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:306438
      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 ...

    RNA

    1. XR_928368.1 RNA Sequence

    2. XR_928367.1 RNA Sequence

    3. XR_928366.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      145774859..145781399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)