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

Summary

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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HELQ deficiency impairs the induction of primordial germ cell-like cells.
Title: HELQ deficiency impairs the induction of primordial germ cell-like cells.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D4S2520E (e-PCR)
- UniSTS:42070

SHGC-36904 (e-PCR)
- UniSTS:2246

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

EC 3.6.4.12

NP_001284685.1

EC 3.6.4.12

NP_001284686.1

EC 3.6.4.12

NP_001284687.2

EC 3.6.4.12

NP_001284688.2

EC 3.6.4.12

NP_598375.3

EC 3.6.4.12

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)

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
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]
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
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
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
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