U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 9400, updated on 3-Dec-2024

    Summary

    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; AllianceGenome:HGNC:9950
    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]
    Expression
    Ubiquitous expression in testis (RPKM 5.3), stomach (RPKM 5.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RECQL5 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75626854..75667154, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76520039..76560340, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73622934..73663234, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8971 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73521300-73521484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73537609-73538426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73540787-73541589 Neighboring gene LLGL scribble cell polarity complex component 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73548510-73549090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73553000-73553936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73553937-73554872 Neighboring gene Sharpr-MPRA regulatory region 3602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12769 Neighboring gene Sharpr-MPRA regulatory region 12965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73583697-73584530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73584531-73585362 Neighboring gene myosin XVB Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73628586-73629266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73629267-73629946 Neighboring gene Sharpr-MPRA regulatory region 461 Neighboring gene HNF1 motif-containing MPRA enhancer 181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12771 Neighboring gene uncharacterized LOC107985013 Neighboring gene small integral membrane protein 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:73662359-73663558 Neighboring gene endoregulin Neighboring gene SAP30 binding protein Neighboring gene SAP30BP antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73684215-73684716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73684717-73685216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73693087-73693798 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:73695788-73696987 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73702471-73703670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73717282-73717820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73717821-73718359 Neighboring gene ITGB4 intron CAGE-defined low expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73724533-73725033 Neighboring gene integrin subunit beta 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73749848-73750621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8978 Neighboring gene galactokinase 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ90603

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA helicase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables RNA polymerase II complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables forked DNA-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables four-way junction helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded 3'-5' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA unwinding involved in DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to camptothecin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome separation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic DNA-templated DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of double-strand break repair via homologous recombination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription elongation by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in replication-born double-strand break repair via sister chromatid exchange IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in replication fork IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription preinitiation complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ATP-dependent DNA helicase Q5
    Names
    DNA 3'-5' helicase RecQ5
    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_006722249.1
    XP_011523786.1
    XP_011523787.1
    XP_011523788.1
    XP_047293041.1
    XP_047293042.1
    XP_047293043.1
    XP_047293044.1
    XP_047293045.1
    XP_047293046.1
    XP_047293047.1
    XP_047293048.1
    XP_054173797.1
    XP_054173798.1
    XP_054173799.1
    XP_054173800.1
    XP_054173801.1
    XP_054173802.1
    XP_054173803.1
    XP_054173804.1
    XP_054173805.1
    XP_054173806.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029617.2 RefSeqGene

      Range
      5000..45300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003715.4NP_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, AC087749, AI537883, AI684041, AK075084, BP272369, N53539
      Consensus CDS
      CCDS32735.1
      UniProtKB/TrEMBL
      B3KQK2
      Related
      ENSP00000341983.5, ENST00000340830.9
      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_001003716.4NP_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
      B3KQK2
      Related
      ENSP00000414933.2, ENST00000420326.6
      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_004259.7NP_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)
      AC087749
      Consensus CDS
      CCDS42380.1
      UniProtKB/Swiss-Prot
      O94762, Q6P4G0, Q9H0B1, Q9P1W7, Q9UNC8
      UniProtKB/TrEMBL
      A5YM55
      Related
      ENSP00000317636.5, ENST00000317905.10
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75626854..75667154 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257818.5XP_005257875.1  ATP-dependent DNA helicase Q5 isoform X1

      See identical proteins and their annotated locations for XP_005257875.1

      UniProtKB/TrEMBL
      A5YM55
      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_047437085.1XP_047293041.1  ATP-dependent DNA helicase Q5 isoform X2

      UniProtKB/Swiss-Prot
      O94762, Q6P4G0, Q9H0B1, Q9P1W7, Q9UNC8
      UniProtKB/TrEMBL
      A5YM55
    3. XM_011525486.3XP_011523788.1  ATP-dependent DNA helicase Q5 isoform X11

      Conserved Domains (2) summary
      pfam06959
      Location:114315
      RecQ5; RecQ helicase protein-like 5 (RecQ5)
      pfam08236
      Location:423462
      SRI; SRI (Set2 Rpb1 interacting) domain
    4. XM_011525485.3XP_011523787.1  ATP-dependent DNA helicase Q5 isoform X6

      UniProtKB/TrEMBL
      Q9BW80
      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
    5. XM_047437087.1XP_047293043.1  ATP-dependent DNA helicase Q5 isoform X3

      UniProtKB/TrEMBL
      Q9BW80
    6. XM_047437089.1XP_047293045.1  ATP-dependent DNA helicase Q5 isoform X8

      UniProtKB/TrEMBL
      Q9BW80
    7. XM_011525484.2XP_011523786.1  ATP-dependent DNA helicase Q5 isoform X4

      UniProtKB/TrEMBL
      Q9BW80
      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
    8. XM_047437086.1XP_047293042.1  ATP-dependent DNA helicase Q5 isoform X3

      UniProtKB/TrEMBL
      Q9BW80
    9. XM_005257822.5XP_005257879.1  ATP-dependent DNA helicase Q5 isoform X9

      See identical proteins and their annotated locations for XP_005257879.1

      UniProtKB/TrEMBL
      Q8WYH5, Q9BW80
      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
    10. XM_047437090.1XP_047293046.1  ATP-dependent DNA helicase Q5 isoform X9

      UniProtKB/TrEMBL
      Q8WYH5, Q9BW80
    11. XM_047437088.1XP_047293044.1  ATP-dependent DNA helicase Q5 isoform X5

      UniProtKB/TrEMBL
      Q9BW80
    12. XM_006722186.2XP_006722249.1  ATP-dependent DNA helicase Q5 isoform X7

      UniProtKB/TrEMBL
      Q9BW80
      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
    13. XM_047437091.1XP_047293047.1  ATP-dependent DNA helicase Q5 isoform X10

      UniProtKB/TrEMBL
      J3KTQ2
    14. XM_047437092.1XP_047293048.1  ATP-dependent DNA helicase Q5 isoform X12

      UniProtKB/TrEMBL
      B3KQK2
      Related
      ENSP00000462248.1, ENST00000584999.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76520039..76560340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317822.1XP_054173797.1  ATP-dependent DNA helicase Q5 isoform X1

      UniProtKB/TrEMBL
      A5YM55
    2. XM_054317831.1XP_054173806.1  ATP-dependent DNA helicase Q5 isoform X11

    3. XM_054317826.1XP_054173801.1  ATP-dependent DNA helicase Q5 isoform X6

      UniProtKB/TrEMBL
      Q9BW80
    4. XM_054317828.1XP_054173803.1  ATP-dependent DNA helicase Q5 isoform X8

      UniProtKB/TrEMBL
      Q9BW80
    5. XM_054317824.1XP_054173799.1  ATP-dependent DNA helicase Q5 isoform X4

      UniProtKB/TrEMBL
      Q9BW80
    6. XM_054317825.1XP_054173800.1  ATP-dependent DNA helicase Q5 isoform X5

      UniProtKB/TrEMBL
      Q9BW80
    7. XM_054317823.1XP_054173798.1  ATP-dependent DNA helicase Q5 isoform X3

      UniProtKB/TrEMBL
      Q9BW80
    8. XM_054317829.1XP_054173804.1  ATP-dependent DNA helicase Q5 isoform X9

      UniProtKB/TrEMBL
      Q8WYH5, Q9BW80
    9. XM_054317827.1XP_054173802.1  ATP-dependent DNA helicase Q5 isoform X7

      UniProtKB/TrEMBL
      Q9BW80
    10. XM_054317830.1XP_054173805.1  ATP-dependent DNA helicase Q5 isoform X10

      UniProtKB/TrEMBL
      J3KTQ2