HELQ - helicase, POLQ like Gene

Homo sapiens

Also known as HEL308

Gene ID: 113510 | Gene type: protein coding

About HELQ

Cytogenetic location: 4q21.23 Genomic coordinates (GRCh38): 4:83,407,346-83,455,883 (from NCBI)

This gene has 6 transcripts (splice variants), 205 orthologues and 8 paralogues. Ubiquitous expression in adrenal (RPKM 4.5), ovary (RPKM 4.1) and 25 other tissues.

Summary

HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]

HELQ Products(6)

mRNA	Protein	Name
NM_001297755.2	NP_001284684.2	helicase POLQ-like isoform 2
NM_001297756.2	NP_001284685.1	helicase POLQ-like isoform 3
NM_001297757.2	NP_001284686.1	helicase POLQ-like isoform 4
NM_001297758.2	NP_001284687.2	helicase POLQ-like isoform 5
NM_001297759.2	NP_001284688.2	helicase POLQ-like isoform 6
NM_133636.5	NP_598375.3	helicase POLQ-like isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24005329	GOA
enables single-stranded 3'-5' DNA helicase activity	IDA IDA: Inferred from direct assay	11751861	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA double-strand break processing involved in repair via single-strand annealing	IDA IDA: Inferred from direct assay	34937945	GOA
involved in double-strand break repair via alternative nonhomologous end joining	IDA IDA: Inferred from direct assay	34937945	GOA
involved in double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	19995904	GOA
involved in double-strand break repair via synthesis-dependent strand annealing	IDA IDA: Inferred from direct assay	34937945	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in nucleus	IDA IDA: Inferred from direct assay	34937945	GOA
is active in site of DNA damage	IDA IDA: Inferred from direct assay	34937945	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HELQ Protein Structure

DEAD

Helicase_C

0
200
400
600
800
1000
1101 a.a.

Protein Preferred Names

Protein Names

helicase POLQ-like

DNA helicase HEL308

HELQ Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HELQ	Q8TDG4	RAD51C	Homo sapiens	O43502	Anti Bait CoIP	24005329
Intra	HELQ	Q8TDG4	RAD51C	Homo sapiens	O43502	Anti Tag CoIP	24005329

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Parkinsonism With Spasticity, X-Linked

X-Linked Parkinsonism-Spasticity Syndrome	XPDS
X-Linked Parkinsonism With Spasticity

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C	FANCC
Facc	Fac
Fa3	Fanconi Pancytopenia Type 3
Fanconi Pancytopenia, Type 3	Faces Syndrome
Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies	Friedman-Goodman Syndrome
Abnormality Of The Face

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06116	HELQ Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HELQ	VGNC	VGNC:62790
Bos taurus	HELQ	VGNC	VGNC:107247
Macaca mulatta	HELQ	VGNC	VGNC:73192
Canis familiaris	HELQ	VGNC	VGNC:41650
Mus musculus	HELQ	MGD	MGI:2176740
Rattus norvegicus	HELQ	RGD	RGD:1560216

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