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    HELQ helicase, POLQ like [ Homo sapiens (human) ]

    Gene ID: 113510, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HELQprovided by HGNC
    Official Full Name
    helicase, POLQ likeprovided by HGNC
    Primary source
    HGNC:HGNC:18536
    See related
    Ensembl:ENSG00000163312 MIM:606769; AllianceGenome:HGNC:18536
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEL308
    Summary
    HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 4.5), ovary (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HELQ in Genome Data Viewer
    Location:
    4q21.23
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (83407346..83455883, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (86737435..86785950, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84328499..84377036, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene heparanase Neighboring gene uncharacterized LOC105377313 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84237230-84238429 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:84242552-84242745 Neighboring gene Sharpr-MPRA regulatory region 10996 Neighboring gene C18orf21 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84309555-84310754 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:84311240-84312057 Neighboring gene Sharpr-MPRA regulatory region 5990 Neighboring gene mitochondrial ribosomal protein S18C Neighboring gene abraxas 1, BRCA1 A complex subunit Neighboring gene solute carrier family 25 member 14 pseudogene 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 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. The screening of HELQ gene in Chinese patients with premature ovarian failure. Wang W, et al. Reprod Biomed Online, 2015 Oct. PMID 26190809
    2. Human HELQ regulates DNA end resection at DNA double-strand breaks and stalled replication forks. Zhao Y, et al. Nucleic Acids Res, 2023 Dec 11. PMID 37897354, Free PMC Article
    3. Screening of HELQ in breast and ovarian cancer families. Pelttari LM, et al. Fam Cancer, 2016 Jan. PMID 26351136
    4. Human HEL308 localizes to damaged replication forks and unwinds lagging strand structures. Tafel AA, et al. J Biol Chem, 2011 May 6. PMID 21398521, Free PMC Article
    5. HELQ is a dual-function DSB repair enzyme modulated by RPA and RAD51. Anand R, et al. Nature, 2022 Jan. PMID 34937945, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HELQ deficiency impairs the induction of primordial germ cell-like cells.
      Title: HELQ deficiency impairs the induction of primordial germ cell-like cells.
    2. A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
      Title: A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
    3. Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common Fragile Site Stability via a FANCD2-Driven Mechanism That Requires HELQ.
      Title: Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common Fragile Site Stability via a FANCD2-Driven Mechanism That Requires HELQ.
    4. Human HELQ regulates DNA end resection at DNA double-strand breaks and stalled replication forks.
      Title: Human HELQ regulates DNA end resection at DNA double-strand breaks and stalled replication forks.
    5. Interaction of human HelQ with DNA polymerase delta halts DNA synthesis and stimulates DNA single-strand annealing.
      Title: Interaction of human HelQ with DNA polymerase delta halts DNA synthesis and stimulates DNA single-strand annealing.
    6. Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome.
      Title: Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome.
    7. HELQ and EGR3 expression correlate with IGHV mutation status and prognosis in chronic lymphocytic leukemia.
      Title: HELQ and EGR3 expression correlate with IGHV mutation status and prognosis in chronic lymphocytic leukemia.
    8. HELQ plays an important role in regulating the expression of DNA repair proteins NER pathway which, in turn, contributes to cellular response to cisplatin and patients' response to platinum-based chemotherapy.
      Title: Helicase POLQ-like (HELQ) as a novel indicator of platinum-based chemoresistance for epithelial ovarian cancer.
    9. WHD domain may contribute to ssDNA translocation, resulting in DNA helicase activity or in removal of other DNA bound proteins by "reeling" ssDNA.
      Title: DNA binding and unwinding by Hel308 helicase requires dual functions of a winged helix domain.
    10. HELQ regulates the CHK1-RAD51 signaling pathway in osteosarcoma cells.
      Title: HELQ reverses the malignant phenotype of osteosarcoma cells via CHK1-RAD51 signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
    EBI GWAS Catalog
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC20604

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded 3'-5' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA double-strand break processing involved in repair via single-strand annealing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via alternative nonhomologous end joining IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in double-strand break repair via synthesis-dependent strand annealing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in site of DNA damage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    helicase POLQ-like
    Names
    DNA helicase HEL308
    POLQ-like helicase
    mus308-like helicase
    NP_001284684.2
    NP_001284685.1
    NP_001284686.1
    NP_001284687.2
    NP_001284688.2
    NP_598375.3

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001297755.2 → NP_001284684.2  helicase POLQ-like isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC096768
      Consensus CDS
      CCDS75158.1
      UniProtKB/TrEMBL
      E3W980
      Related
      ENSP00000424539.1, ENST00000510985.1
      Conserved Domains (1) summary
      PRK02362
      Location:318 → 999
      PRK02362; ATP-dependent DNA helicase

    2. NM_001297756.2 → NP_001284685.1  helicase POLQ-like isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and uses an alternate start codon, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC096768
      Conserved Domains (1) summary
      cl28230
      Location:25 → 569
      Dob10; Superfamily II RNA helicase [Replication, recombination and repair]

    3. NM_001297757.2 → NP_001284686.1  helicase POLQ-like isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC096768
      Conserved Domains (3) summary
      smart00490
      Location:90 → 168
      HELICc; helicase superfamily c-terminal domain
      PRK02362
      Location:20 → 522
      PRK02362; ski2-like helicase; Provisional
      pfam14520
      Location:469 → 522
      HHH_5; Helix-hairpin-helix domain

    4. NM_001297758.2 → NP_001284687.2  helicase POLQ-like isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' coding region, lacks several exons, and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC096768

    5. NM_001297759.2 → NP_001284688.2  helicase POLQ-like isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks several exons, and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (6) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC096768

    6. NM_133636.5 → NP_598375.3  helicase POLQ-like isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC096768
      Consensus CDS
      CCDS3603.1
      UniProtKB/Swiss-Prot
      Q05DF9, Q502W9, Q659B8, Q6ZQX4, Q6ZTS4, Q8TDG4, Q96EX7
      Related
      ENSP00000295488.3, ENST00000295488.8
      Conserved Domains (2) summary
      PRK02362
      Location:318 → 1066
      PRK02362; ATP-dependent DNA helicase
      cd18026
      Location:319 → 521
      DEXHc_POLQ-like; DEXH-box helicase domain of DNA polymerase theta

    RNA

    1. NR_123737.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA150438, AC096768, AI627810, AK128665, BM986846, DB081240

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      83407346..83455883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      86737435..86785950 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDG4.2 GenPept UniProtKB/Swiss-Prot:Q8TDG4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools