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    RECQL5 RecQ like helicase 5 [ Homo sapiens (human) ]

    Gene ID: 9400, updated on 9-Jul-2017
    Official Symbol
    RECQL5provided by HGNC
    Official Full Name
    RecQ like helicase 5provided by HGNC
    Primary source
    HGNC:HGNC:9950
    See related
    Ensembl:ENSG00000108469 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
    Location:
    17q25.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (75626845..75667202, 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 uncharacterized LOC107985023 Neighboring gene tRNA splicing endonuclease subunit 54 Neighboring gene LLGL2, scribble cell polarity complex component Neighboring gene myosin XVB Neighboring gene uncharacterized LOC107985013 Neighboring gene small integral membrane protein 5 Neighboring gene small integral membrane protein 6 Neighboring gene SAP30 binding protein Neighboring gene integrin subunit beta 4 Neighboring gene galactokinase 1

    • 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

    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 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA binding IBA
    Inferred from Biological aspect of Ancestor
    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 
    four-way junction helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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
     
    cellular response to camptothecin IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome separation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of double-strand break repair via homologous recombination IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription elongation from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    replication-born double-strand break repair via sister chromatid exchange IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    DNA-directed RNA polymerase II, holoenzyme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol 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
    RecQ helicase-like 5
    RecQ protein-like 5
    NP_001003715.1
    NP_001003716.1
    NP_004250.4
    XP_005257875.1
    XP_005257879.1
    XP_005257880.1
    XP_006722249.1
    XP_011523784.1
    XP_011523786.1
    XP_011523787.1
    XP_011523788.1
    XP_016880832.1
    XP_016880833.1

    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_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/Swiss-Prot
      O94762
      UniProtKB/TrEMBL
      B3KQK2
      Related
      ENSP00000341983.5, OTTHUMP00000262397, ENST00000340830.9, OTTHUMT00000448219
      Conserved Domains (3) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      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 ...
      pfam00270
      Location:31201
      DEAD; DEAD/DEAH box helicase
    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/Swiss-Prot
      O94762
      UniProtKB/TrEMBL
      A0A024R8S8
      Related
      ENSP00000414933.2, OTTHUMP00000262396, ENST00000420326.6, OTTHUMT00000448218
      Conserved Domains (3) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      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 ...
      pfam00270
      Location:31201
      DEAD; DEAD/DEAH box helicase
    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/Swiss-Prot
      O94762
      UniProtKB/TrEMBL
      A0A024R8M9, Q8WYH5
      Related
      ENSP00000317636.5, OTTHUMP00000262390, ENST00000317905.9, OTTHUMT00000448207
      Conserved Domains (5) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      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 ...
      pfam00270
      Location:31201
      DEAD; DEAD/DEAH box helicase
      pfam06959
      Location:625826
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam16124
      Location:367434
      RecQ_Zn_bind; RecQ zinc-binding

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      75626845..75667202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025343.1XP_016880832.1  ATP-dependent DNA helicase Q5 isoform X2

      UniProtKB/Swiss-Prot
      O94762
      UniProtKB/TrEMBL
      A0A024R8M9
      Conserved Domains (5) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      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 ...
      pfam00270
      Location:31201
      DEAD; DEAD/DEAH box helicase
      pfam06959
      Location:625826
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam16124
      Location:367434
      RecQ_Zn_bind; RecQ zinc-binding
    2. XM_005257822.3XP_005257879.1  ATP-dependent DNA helicase Q5 isoform X6

      See identical proteins and their annotated locations for XP_005257879.1

      UniProtKB/TrEMBL
      Q8WYH5
      Conserved Domains (3) summary
      pfam06959
      Location:220421
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam08236
      Location:508547
      SRI; SRI (Set2 Rpb1 interacting) domain
      pfam16124
      Location:429
      RecQ_Zn_bind; RecQ zinc-binding
    3. XM_005257818.3XP_005257875.1  ATP-dependent DNA helicase Q5 isoform X1

      See identical proteins and their annotated locations for XP_005257875.1

      Conserved Domains (5) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      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 ...
      pfam00270
      Location:31201
      DEAD; DEAD/DEAH box helicase
      pfam06959
      Location:625826
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam16124
      Location:367434
      RecQ_Zn_bind; RecQ zinc-binding
    4. XM_011525482.2XP_011523784.1  ATP-dependent DNA helicase Q5 isoform X1

      See identical proteins and their annotated locations for XP_011523784.1

      Conserved Domains (5) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      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 ...
      pfam00270
      Location:31201
      DEAD; DEAD/DEAH box helicase
      pfam06959
      Location:625826
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam16124
      Location:367434
      RecQ_Zn_bind; RecQ zinc-binding
    5. XM_011525486.2XP_011523788.1  ATP-dependent DNA helicase Q5 isoform X8

      Conserved Domains (2) summary
      pfam06959
      Location:114315
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam08236
      Location:423462
      SRI; SRI (Set2 Rpb1 interacting) domain
    6. XM_011525484.1XP_011523786.1  ATP-dependent DNA helicase Q5 isoform X3

      Conserved Domains (3) summary
      pfam06959
      Location:231432
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam08236
      Location:540579
      SRI; SRI (Set2 Rpb1 interacting) domain
      pfam16124
      Location:1640
      RecQ_Zn_bind; RecQ zinc-binding
    7. XM_011525485.2XP_011523787.1  ATP-dependent DNA helicase Q5 isoform X4

      Conserved Domains (3) summary
      pfam06959
      Location:225426
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam08236
      Location:534573
      SRI; SRI (Set2 Rpb1 interacting) domain
      pfam16124
      Location:634
      RecQ_Zn_bind; RecQ zinc-binding
    8. XM_006722186.2XP_006722249.1  ATP-dependent DNA helicase Q5 isoform X5

      Conserved Domains (3) summary
      pfam06959
      Location:220421
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam08236
      Location:529568
      SRI; SRI (Set2 Rpb1 interacting) domain
      pfam16124
      Location:429
      RecQ_Zn_bind; RecQ zinc-binding
    9. XM_005257823.3XP_005257880.1  ATP-dependent DNA helicase Q5 isoform X7

      Conserved Domains (4) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      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 ...
      pfam00270
      Location:31201
      DEAD; DEAD/DEAH box helicase
      pfam16124
      Location:367434
      RecQ_Zn_bind; RecQ zinc-binding
    10. XM_017025344.1XP_016880833.1  ATP-dependent DNA helicase Q5 isoform X9

      UniProtKB/Swiss-Prot
      O94762
      Related
      ENSP00000463099.1, OTTHUMP00000262394, ENST00000578201.5, OTTHUMT00000448213
      Conserved Domains (3) summary
      smart00487
      Location:22229
      DEXDc; DEAD-like helicases superfamily
      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 ...
      pfam00270
      Location:31201
      DEAD; DEAD/DEAH box helicase

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

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