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

Gene ID: 113510, updated on 14-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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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)

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 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 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 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 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 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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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
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