POLQ - DNA polymerase theta Gene

Also Known as PRO0327

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10721

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 References 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 References 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 References 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

DEAD: DEAD/DEAH box helicase (104 - 270)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (413 - 485)

HHH_5

HHH_5: Helix-hairpin-helix domain (788 - 884)

DNA_pol_A

DNA_pol_A: DNA polymerase family A (2313 - 2584)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (6)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10836 POLQ Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-183630 AZD4956 Inhibitor / Unkown
HY-182322 POLQ-IN-1 Inhibitor / Unkown
HY-RS10833 POLK Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17891 Polq Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24360 Polq Rat Pre-designed siRNA Set A Pre-designed Set / 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