POLQ - DNA polymerase theta Gene

Homo sapiens

Also known as PRO0327

Gene ID: 10721 | Gene type: protein coding

About POLQ

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:121,431,431-121,545,988 (from NCBI)

This gene has 4 transcripts (splice variants), 187 orthologues, 8 paralogues and is associated with 90 phenotypes. Biased expression in bone marrow (RPKM 2.5), lymph node (RPKM 1.7) and 13 other tissues.

Summary

Enables catalytic activity, acting on DNA; chromatin binding activity; and identical protein binding activity. Involved in DNA repair; negative regulation of double-strand break repair via homologous recombination; and protein homooligomerization. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

POLQ Products(1)

mRNA	Protein	Name
NM_199420.4	NP_955452.3	DNA polymerase theta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 5'-deoxyribose-5-phosphate lyase activity	IDA IDA: Inferred from direct assay	19188258	GOA
enables DNA helicase activity	IDA IDA: Inferred from direct assay	36455556	GOA
enables DNA-directed DNA polymerase activity	IDA IDA: Inferred from direct assay	14576298	GOA
enables DNA-directed DNA polymerase activity	IMP IMP: Inferred from mutant phenotype	22135286	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	25642963	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	26636256	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	25775267	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25642963	GOA
enables single-stranded DNA helicase activity	IDA IDA: Inferred from direct assay	14576298	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	25642963	GOA
involved in base-excision repair	IDA IDA: Inferred from direct assay	19188258	GOA
involved in double-strand break repair	IDA IDA: Inferred from direct assay	22135286	GOA
involved in double-strand break repair via alternative nonhomologous end joining	IDA IDA: Inferred from direct assay	25643323	GOA
involved in error-prone translesion synthesis	IDA IDA: Inferred from direct assay	30655289	GOA
involved in negative regulation of double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	25642963	GOA
involved in negative regulation of double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	28695890	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	25643323	GOA
involved in replication fork processing	IDA IDA: Inferred from direct assay	30655289	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	29509408	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	29509408	GOA
is active in site of DNA damage	IDA IDA: Inferred from direct assay	34179826	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	37440612	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

POLQ Protein Structure

DEAD

Helicase_C

HHH_5

DNA_pol_A

0
400
800
1200
1600
2000
2400
2590 a.a.

Protein Preferred Names

Protein Names

DNA polymerase theta

epididymis secretory sperm binding protein

POLQ Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	POLQ	O75417	RBM25	Homo sapiens	P49756	Anti Tag CoIP	35271311
Intra	POLQ	O75417	RBM25	Homo sapiens	P49756	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

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-RS10836	POLQ Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	POLQ	VGNC	VGNC:68946
Mus musculus	POLQ	MGD	MGI:2155399
Rattus norvegicus	POLQ	RGD	RGD:1309795
Macaca mulatta	POLQ	VGNC	VGNC:76210
Bos taurus	POLQ	VGNC	VGNC:33130
Others	POLQ	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.