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RECQL4 RecQ like helicase 4 [ Homo sapiens (human) ]

Gene ID: 9401, updated on 27-Nov-2024

Summary

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Official Symbol
RECQL4provided by HGNC
Official Full Name
RecQ like helicase 4provided by HGNC
Primary source
HGNC:HGNC:9949
See related
Ensembl:ENSG00000160957 MIM:603780; AllianceGenome:HGNC:9949
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]
Expression
Broad expression in bone marrow (RPKM 7.0), testis (RPKM 7.0) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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See RECQL4 in Genome Data Viewer
Location:
8q24.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144511288..144517833, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145681054..145688017, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145736671..145743217, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928953 Neighboring gene Sharpr-MPRA regulatory region 2015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145729171-145729831 Neighboring gene glutamic--pyruvic transaminase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145735245-145735868 Neighboring gene major facilitator superfamily domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145746055-145746717 Neighboring gene leucine rich repeat containing 14 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145747722-145747910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145749372-145750034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145750035-145750697 Neighboring gene leucine rich repeat containing 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145751430-145752286 Neighboring gene Sharpr-MPRA regulatory region 11949 Neighboring gene chromosome 8 open reading frame 82 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19706

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. RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity. Croteau DL, et al. Biochim Biophys Acta, 2012 Nov. PMID 22885111, Free PMC Article
  2. DNA helicase activity in purified human RECQL4 protein. Suzuki T, et al. J Biochem, 2009 Sep. PMID 19451148
  3. Direct and indirect roles of RECQL4 in modulating base excision repair capacity. Schurman SH, et al. Hum Mol Genet, 2009 Sep 15. PMID 19567405, Free PMC Article
  4. The involvement of human RECQL4 in DNA double-strand break repair. Singh DK, et al. Aging Cell, 2010 Jun. PMID 20222902, Free PMC Article
  5. Baller-Gerold Syndrome. Adam MP, et al. , 1993. PMID 20301383

See all (135) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RecQ helicase expression in patients with telomeropathies.
    Title: RecQ helicase expression in patients with telomeropathies.
  2. RECQL4 is not critical for firing of human DNA replication origins.
    Title: RECQL4 is not critical for firing of human DNA replication origins.
  3. Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase.
    Title: Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase.
  4. Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
    Title: Hyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
  5. A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report.
    Title: A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report.
  6. TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway.
    Title: TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway.
  7. Cancer risk among RECQL4 heterozygotes.
    Title: Cancer risk among RECQL4 heterozygotes.
  8. Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
    Title: Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
  9. Role and Regulation of the RECQL4 Family during Genomic Integrity Maintenance.
    Title: Role and Regulation of the RECQL4 Family during Genomic Integrity Maintenance.
  10. UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair.
    Title: UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair.
Submit: New GeneRIF Correction See all GeneRIFs (91)

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

Associated conditions

Description Tests
Baller-Gerold syndrome
MedGen: C0265308 OMIM: 218600 GeneReviews: Baller-Gerold Syndrome
Compare labs
Rapadilino syndrome
MedGen: C1849453 OMIM: 266280 GeneReviews: Not available
Compare labs
Rothmund-Thomson syndrome type 2
MedGen: C5203410 OMIM: 268400 GeneReviews: Rothmund-Thomson Syndrome
Compare labs

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables 3'-5' DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 clamp loader activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA/DNA annealing activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables bubble DNA 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 TAS
Traceable Author Statement
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 oxidized purine DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables telomeric D-loop binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA duplex unwinding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in DNA duplex unwinding TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA repair TAS
Traceable Author Statement
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 chromatin looping IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in telomere maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in telomeric D-loop disassembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in telomeric D-loop disassembly IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in chromosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in chromosome, telomeric region IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ATP-dependent DNA helicase Q4
Names
DNA 3'-5' helicase RecQ4
DNA helicase, RecQ-like, type 4
RecQ helicase-like 4
RecQ protein-like 4
NP_001399946.1
NP_001399947.1
NP_001399948.1
NP_001399949.1
NP_001399950.1
NP_001399951.1
NP_001399952.1
NP_001399953.1
NP_001399954.1
NP_001399956.1
NP_001399957.1
NP_001399958.1
NP_001399959.1
NP_001399960.1
NP_001399961.1
NP_001399962.1
NP_001399963.1
NP_001399964.1
NP_001399965.1
NP_001399966.1
NP_001399967.1
NP_001399968.1
NP_001399969.1
NP_001399970.1
NP_001399971.1
NP_001399972.1
NP_004251.4
XP_047278394.1
XP_047278396.1
XP_047278397.1
XP_047278399.1
XP_047278400.1
XP_047278404.1
XP_054217505.1
XP_054217506.1
XP_054217507.1
XP_054217508.1
XP_054217509.1
XP_054217510.1

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_016430.2 RefSeqGene

    Range
    4994..11539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_277

mRNA and Protein(s)

  1. NM_001413017.1 → NP_001399946.1  ATP-dependent DNA helicase Q4 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  2. NM_001413018.1 → NP_001399947.1  ATP-dependent DNA helicase Q4 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  3. NM_001413019.1 → NP_001399948.1  ATP-dependent DNA helicase Q4 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  4. NM_001413020.1 → NP_001399949.1  ATP-dependent DNA helicase Q4 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  5. NM_001413021.1 → NP_001399950.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072

  6. NM_001413022.1 → NP_001399951.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072
    Related
    ENSP00000483145.1, ENST00000621189.4

  7. NM_001413023.1 → NP_001399952.1  ATP-dependent DNA helicase Q4 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  8. NM_001413024.1 → NP_001399953.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072

  9. NM_001413025.1 → NP_001399954.1  ATP-dependent DNA helicase Q4 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  10. NM_001413027.1 → NP_001399956.1  ATP-dependent DNA helicase Q4 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  11. NM_001413028.1 → NP_001399957.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072

  12. NM_001413029.1 → NP_001399958.1  ATP-dependent DNA helicase Q4 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  13. NM_001413030.1 → NP_001399959.1  ATP-dependent DNA helicase Q4 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  14. NM_001413031.1 → NP_001399960.1  ATP-dependent DNA helicase Q4 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  15. NM_001413032.1 → NP_001399961.1  ATP-dependent DNA helicase Q4 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  16. NM_001413033.1 → NP_001399962.1  ATP-dependent DNA helicase Q4 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  17. NM_001413034.1 → NP_001399963.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072

  18. NM_001413035.1 → NP_001399964.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072

  19. NM_001413036.1 → NP_001399965.1  ATP-dependent DNA helicase Q4 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  20. NM_001413037.1 → NP_001399966.1  ATP-dependent DNA helicase Q4 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  21. NM_001413038.1 → NP_001399967.1  ATP-dependent DNA helicase Q4 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  22. NM_001413039.1 → NP_001399968.1  ATP-dependent DNA helicase Q4 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  23. NM_001413040.1 → NP_001399969.1  ATP-dependent DNA helicase Q4 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    UniProtKB/TrEMBL
    A0A087X072

  24. NM_001413041.1 → NP_001399970.1  ATP-dependent DNA helicase Q4 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  25. NM_001413042.1 → NP_001399971.1  ATP-dependent DNA helicase Q4 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  26. NM_001413043.1 → NP_001399972.1  ATP-dependent DNA helicase Q4 isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  27. NM_004260.4 → NP_004251.4  ATP-dependent DNA helicase Q4 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717
    Consensus CDS
    CCDS75804.1
    UniProtKB/Swiss-Prot
    A0A087WZ30, O94761, Q3Y424, Q96DW2, Q96F55
    UniProtKB/TrEMBL
    X2JEV0
    Related
    ENSP00000482313.2, ENST00000617875.6
    Conserved Domains (2) summary
    cd18794
    Location:673 → 817
    SF2_C_RecQ; C-terminal helicase domain of the RecQ family helicases
    cd18018
    Location:470 → 667
    DEXHc_RecQ4-like; DEAH-box helicase domain of RecQ4 and similar proteins

RNA

  1. NR_182090.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  2. NR_182091.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

  3. NR_182092.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC084125, KF495717

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144511288..144517833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422438.1 → XP_047278394.1  ATP-dependent DNA helicase Q4 isoform X1

  2. XM_047422440.1 → XP_047278396.1  ATP-dependent DNA helicase Q4 isoform X2

  3. XM_047422441.1 → XP_047278397.1  ATP-dependent DNA helicase Q4 isoform X3

  4. XM_047422443.1 → XP_047278399.1  ATP-dependent DNA helicase Q4 isoform X4

  5. XM_047422444.1 → XP_047278400.1  ATP-dependent DNA helicase Q4 isoform X5

  6. XM_047422448.1 → XP_047278404.1  ATP-dependent DNA helicase Q4 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145681054..145688017 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361530.1 → XP_054217505.1  ATP-dependent DNA helicase Q4 isoform X1

  2. XM_054361531.1 → XP_054217506.1  ATP-dependent DNA helicase Q4 isoform X2

  3. XM_054361532.1 → XP_054217507.1  ATP-dependent DNA helicase Q4 isoform X3

  4. XM_054361533.1 → XP_054217508.1  ATP-dependent DNA helicase Q4 isoform X4

  5. XM_054361534.1 → XP_054217509.1  ATP-dependent DNA helicase Q4 isoform X5

  6. XM_054361535.1 → XP_054217510.1  ATP-dependent DNA helicase Q4 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O94761.2 GenPept UniProtKB/Swiss-Prot:O94761

Gene LinkOut

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