Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    RECQL5 RecQ protein-like 5 [ Homo sapiens (human) ]

    Gene ID: 9400, updated on 5-Jul-2015
    Official Symbol
    RECQL5provided by HGNC
    Official Full Name
    RecQ protein-like 5provided by HGNC
    Primary source
    HGNC:HGNC:9950
    See related
    Ensembl:ENSG00000108469; HPRD:04806; MIM:603781; Vega:OTTHUMG00000179795
    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
    RECQ5
    Summary
    The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
    Orthologs
    See RECQL5 in Epigenomics, MapViewer
    Location:
    17q25
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (75626845..75667191, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73622925..73663270, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TSEN54 tRNA splicing endonuclease subunit Neighboring gene lethal giant larvae homolog 2 (Drosophila) Neighboring gene myosin XVB Neighboring gene small integral membrane protein 5 Neighboring gene small integral membrane protein 6 Neighboring gene SAP30 binding protein Neighboring gene integrin, beta 4 Neighboring gene galactokinase 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ90603

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA helicase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    RNA polymerase II core binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA duplex unwinding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA duplex unwinding TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome separation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription elongation from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    DNA-directed RNA polymerase II, holoenzyme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ATP-dependent DNA helicase Q5
    Names
    DNA helicase, RecQ-like type 5
    NP_001003715.1
    NP_001003716.1
    NP_004250.4

    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_029617.1 RefSeqGene

      Range
      5001..45345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003715.3NP_001003715.1  ATP-dependent DNA helicase Q5 isoform 2

      See identical proteins and their annotated locations for NP_001003715.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as RecQ5-gamma, differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB042825, AI537883, AI684041, AK075084, BP272369, N53539
      Consensus CDS
      CCDS32735.1
      UniProtKB/TrEMBL
      B3KQK2
      UniProtKB/Swiss-Prot
      O94762
      Conserved Domains (3) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:46194
      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:246362
      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. NM_001003716.3NP_001003716.1  ATP-dependent DNA helicase Q5 isoform 3

      See identical proteins and their annotated locations for NP_001003716.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as RecQ5-alpha, differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the C-terminus compared to isoform 1.
      Source sequence(s)
      AB042823, AC087749, AI537883
      Consensus CDS
      CCDS45777.1
      UniProtKB/TrEMBL
      A0A024R8S8
      UniProtKB/Swiss-Prot
      O94762
      Conserved Domains (3) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:46194
      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:246362
      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 ...
    3. NM_004259.6NP_004250.4  ATP-dependent DNA helicase Q5 isoform 1

      See identical proteins and their annotated locations for NP_004250.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is also known as RecQ5-beta; it encodes the longest isoform (1).
      Source sequence(s)
      AB042824, AF193041
      Consensus CDS
      CCDS42380.1
      UniProtKB/TrEMBL
      A0A024R8M9
      UniProtKB/Swiss-Prot
      O94762
      UniProtKB/TrEMBL
      Q8WYH5
      Related
      ENSP00000317636, OTTHUMP00000262390, ENST00000317905, OTTHUMT00000448207
      Conserved Domains (4) summary
      pfam06959
      Location:625829
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:46194
      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:246362
      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_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      75626845..75667191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525482.1XP_011523784.1  

      See identical proteins and their annotated locations for XP_011523784.1

      Conserved Domains (5) summary
      pfam06959
      Location:625829
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:46194
      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:246362
      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 ...
      pfam06278
      Location:806906
      DUF1032; Protein of unknown function (DUF1032)
    2. XM_005257818.2XP_005257875.1  

      See identical proteins and their annotated locations for XP_005257875.1

      Conserved Domains (5) summary
      pfam06959
      Location:625829
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:46194
      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:246362
      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 ...
      pfam06278
      Location:806906
      DUF1032; Protein of unknown function (DUF1032)
    3. XM_011525486.1XP_011523788.1  

      Conserved Domains (2) summary
      pfam06959
      Location:114318
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam06278
      Location:295395
      DUF1032; Protein of unknown function (DUF1032)
    4. XM_011525484.1XP_011523786.1  

      Conserved Domains (2) summary
      pfam06959
      Location:231435
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam06278
      Location:412512
      DUF1032; Protein of unknown function (DUF1032)
    5. XM_011525485.1XP_011523787.1  

      Conserved Domains (2) summary
      pfam06959
      Location:225429
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam06278
      Location:406506
      DUF1032; Protein of unknown function (DUF1032)
    6. XM_005257822.2XP_005257879.1  

      See identical proteins and their annotated locations for XP_005257879.1

      UniProtKB/TrEMBL
      Q8WYH5
      Conserved Domains (1) summary
      pfam06959
      Location:220424
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
    7. XM_011525483.1XP_011523785.1  

      Conserved Domains (2) summary
      pfam06959
      Location:246450
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam06278
      Location:427527
      DUF1032; Protein of unknown function (DUF1032)
    8. XM_006722186.2XP_006722249.1  

      Conserved Domains (2) summary
      pfam06959
      Location:220424
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam06278
      Location:401501
      DUF1032; Protein of unknown function (DUF1032)
    9. XM_005257823.2XP_005257880.1  

      Conserved Domains (3) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      cd00046
      Location:46194
      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:246362
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      73687648..73727993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)