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

Gene ID: 9400, updated on 14-Apr-2024

Summary

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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
mouse all
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Genomic context

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Location:
17q25.1
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75626854..75667154, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76520039..76560340, complement)
105.20220307 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 small integral membrane protein 6 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Human RecQ helicases in transcription-associated stress management: bridging the gap between DNA and RNA metabolism. Das T, et al. Biol Chem, 2021 Apr 27. PMID 33567180
  2. Single-molecule visualization of human RECQ5 interactions with single-stranded DNA recombination intermediates. Xue C, et al. Nucleic Acids Res, 2021 Jan 11. PMID 33332547, Free PMC Article
  3. Human RECQL5 promotes metastasis and resistance to cisplatin in non-small cell lung cancer. Xia HW, et al. Life Sci, 2021 Jan 15. PMID 33217443
  4. RECQL5 KIX domain splicing isoforms have distinct functions in transcription repression and DNA damage response. Ding D, et al. DNA Repair (Amst), 2021 Jan. PMID 33197722
  5. Mining the role of RECQL5 in gastric cancer and seeking potential regulatory network by bioinformatics analysis. Lin Y, et al. Exp Mol Pathol, 2020 Aug. PMID 32497619

See all (97) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The deubiquitinase USP28 stabilizes the expression of RecQ family helicases and maintains the viability of triple negative breast cancer cells.
    Title: The deubiquitinase USP28 stabilizes the expression of RecQ family helicases and maintains the viability of triple negative breast cancer cells.
  2. Human RecQ helicases in transcription-associated stress management: bridging the gap between DNA and RNA metabolism.
    Title: Human RecQ helicases in transcription-associated stress management: bridging the gap between DNA and RNA metabolism.
  3. RECQL5 KIX domain splicing isoforms have distinct functions in transcription repression and DNA damage response.
    Title: RECQL5 KIX domain splicing isoforms have distinct functions in transcription repression and DNA damage response.
  4. ATRX and RECQ5 define distinct homologous recombination subpathways.
    Title: ATRX and RECQ5 define distinct homologous recombination subpathways.
  5. Single-molecule visualization of human RECQ5 interactions with single-stranded DNA recombination intermediates.
    Title: Single-molecule visualization of human RECQ5 interactions with single-stranded DNA recombination intermediates.
  6. Human RECQL5 promotes metastasis and resistance to cisplatin in non-small cell lung cancer.
    Title: Human RECQL5 promotes metastasis and resistance to cisplatin in non-small cell lung cancer.
  7. Mining the role of RECQL5 in gastric cancer and seeking potential regulatory network by bioinformatics analysis.
    Title: Mining the role of RECQL5 in gastric cancer and seeking potential regulatory network by bioinformatics analysis.
  8. These results prompt us to propose RECQL5 as a gene that would be worth to analyze in larger studies to explore its possible implication in BC susceptibility.
    Title: RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility.
  9. increased RECQ5 levels stimulated 'alternative' HDR by single-stranded DNA donors, which is normally suppressed by RAD51; this was accompanied by stimulation of mutagenic end-joining. These results suggest that in some tumors, RECQ5 gene amplification may have profound consequences for genomic instability
    Title: Increased levels of RECQ5 shift DNA repair from canonical to alternative pathways.
  10. It has been shown that conjugation of SUMO2, but not SUMO1 or SUMO3, to the essential replication factor PCNA is induced on transcribed chromatin by the RNAPII-bound helicase RECQ5.
    Title: SUMO2 conjugation of PCNA facilitates chromatin remodeling to resolve transcription-replication conflicts.
Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 DNA binding 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 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 isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding 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 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 
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

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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)

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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_001003715.4 → NP_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:22 → 229
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:246 → 362
    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:31 → 201
    DEAD; DEAD/DEAH box helicase

  2. NM_001003716.4 → NP_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:22 → 229
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:246 → 362
    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:31 → 201
    DEAD; DEAD/DEAH box helicase

  3. NM_004259.7 → NP_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:22 → 229
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:246 → 362
    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:31 → 201
    DEAD; DEAD/DEAH box helicase
    pfam06959
    Location:625 → 826
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam16124
    Location:367 → 434
    RecQ_Zn_bind; RecQ zinc-binding

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_005257818.5 → XP_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:22 → 229
    DEXDc; DEAD-like helicases superfamily
    cd00079
    Location:246 → 362
    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:31 → 201
    DEAD; DEAD/DEAH box helicase
    pfam06959
    Location:625 → 826
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam16124
    Location:367 → 434
    RecQ_Zn_bind; RecQ zinc-binding

  2. XM_047437085.1 → XP_047293041.1  ATP-dependent DNA helicase Q5 isoform X2

    UniProtKB/Swiss-Prot
    O94762, Q6P4G0, Q9H0B1, Q9P1W7, Q9UNC8

  3. XM_011525486.3 → XP_011523788.1  ATP-dependent DNA helicase Q5 isoform X11

    Conserved Domains (2) summary
    pfam06959
    Location:114 → 315
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:423 → 462
    SRI; SRI (Set2 Rpb1 interacting) domain

  4. XM_011525485.3 → XP_011523787.1  ATP-dependent DNA helicase Q5 isoform X6

    UniProtKB/TrEMBL
    Q9BW80
    Conserved Domains (3) summary
    pfam06959
    Location:225 → 426
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:534 → 573
    SRI; SRI (Set2 Rpb1 interacting) domain
    pfam16124
    Location:6 → 34
    RecQ_Zn_bind; RecQ zinc-binding

  5. XM_047437087.1 → XP_047293043.1  ATP-dependent DNA helicase Q5 isoform X3

  6. XM_047437089.1 → XP_047293045.1  ATP-dependent DNA helicase Q5 isoform X8

  7. XM_011525484.2 → XP_011523786.1  ATP-dependent DNA helicase Q5 isoform X4

    UniProtKB/TrEMBL
    Q9BW80
    Conserved Domains (3) summary
    pfam06959
    Location:231 → 432
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:540 → 579
    SRI; SRI (Set2 Rpb1 interacting) domain
    pfam16124
    Location:16 → 40
    RecQ_Zn_bind; RecQ zinc-binding

  8. XM_047437086.1 → XP_047293042.1  ATP-dependent DNA helicase Q5 isoform X3

  9. XM_005257822.5 → XP_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:220 → 421
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:508 → 547
    SRI; SRI (Set2 Rpb1 interacting) domain
    pfam16124
    Location:4 → 29
    RecQ_Zn_bind; RecQ zinc-binding

  10. XM_047437090.1 → XP_047293046.1  ATP-dependent DNA helicase Q5 isoform X9

    UniProtKB/TrEMBL
    Q8WYH5

  11. XM_047437088.1 → XP_047293044.1  ATP-dependent DNA helicase Q5 isoform X5

  12. XM_006722186.2 → XP_006722249.1  ATP-dependent DNA helicase Q5 isoform X7

    UniProtKB/TrEMBL
    Q9BW80
    Conserved Domains (3) summary
    pfam06959
    Location:220 → 421
    RecQ5; RecQ helicase protein-like 5 (RecQ5)
    pfam08236
    Location:529 → 568
    SRI; SRI (Set2 Rpb1 interacting) domain
    pfam16124
    Location:4 → 29
    RecQ_Zn_bind; RecQ zinc-binding

  13. XM_047437091.1 → XP_047293047.1  ATP-dependent DNA helicase Q5 isoform X10

  14. XM_047437092.1 → XP_047293048.1  ATP-dependent DNA helicase Q5 isoform X12

    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_054317822.1 → XP_054173797.1  ATP-dependent DNA helicase Q5 isoform X1

  2. XM_054317831.1 → XP_054173806.1  ATP-dependent DNA helicase Q5 isoform X11

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

  4. XM_054317828.1 → XP_054173803.1  ATP-dependent DNA helicase Q5 isoform X8

  5. XM_054317824.1 → XP_054173799.1  ATP-dependent DNA helicase Q5 isoform X4

  6. XM_054317825.1 → XP_054173800.1  ATP-dependent DNA helicase Q5 isoform X5

  7. XM_054317823.1 → XP_054173798.1  ATP-dependent DNA helicase Q5 isoform X3

  8. XM_054317829.1 → XP_054173804.1  ATP-dependent DNA helicase Q5 isoform X9

    UniProtKB/TrEMBL
    Q8WYH5

  9. XM_054317827.1 → XP_054173802.1  ATP-dependent DNA helicase Q5 isoform X7

  10. XM_054317830.1 → XP_054173805.1  ATP-dependent DNA helicase Q5 isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94762.2 GenPept UniProtKB/Swiss-Prot:O94762

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