POLB (DNA polymerase beta)

Gene

• Entrez ID: 5423
• Gene name: DNA polymerase beta
• Gene symbol: POLB
• Synonyms (NCBI Gene): -
• Chromosome: 8
• Chromosome location: 8p11.21
• Summary: The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA dam

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051150	hsa-miR-16-5p	CLASH	23622248
MIRT035975	hsa-miR-1301-3p	CLASH	23622248

Transcription factors

Transcription factor	Regulation	Reference
ATF2	Activation	10518804

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IDA	9207062, 16600869
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	TAS	8168825
GO:0003906	Function	DNA-(apurinic or apyrimidinic site) endonuclease activity	TAS
GO:0005515	Function	Protein binding	IPI	9207062, 15520167, 19336415, 25260657, 25416956, 25910212, 26496610, 26760506, 28514442, 31515488, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19713937, 21362556
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15725623, 19713937, 21362556
GO:0005737	Component	Cytoplasm	IEA
GO:0005874	Component	Microtubule	IDA	15725623
GO:0005876	Component	Spindle microtubule	IDA	15725623
GO:0006260	Process	DNA replication	IEA
GO:0006261	Process	DNA-templated DNA replication	TAS	8168825
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	8168825
GO:0006284	Process	Base-excision repair	IBA
GO:0006284	Process	Base-excision repair	IDA	16600869
GO:0006284	Process	Base-excision repair	IMP	21362556
GO:0006284	Process	Base-excision repair	TAS
GO:0006287	Process	Base-excision repair, gap-filling	IEA
GO:0006287	Process	Base-excision repair, gap-filling	IEA
GO:0006287	Process	Base-excision repair, gap-filling	TAS
GO:0006290	Process	Pyrimidine dimer repair	IEA
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IMP	20227374
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	21362556
GO:0007435	Process	Salivary gland morphogenesis	IEA
GO:0008017	Function	Microtubule binding	IDA	15725623
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0010332	Process	Response to gamma radiation	IEA
GO:0016445	Process	Somatic diversification of immunoglobulins	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016829	Function	Lyase activity	IDA	16600869
GO:0016829	Function	Lyase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	16600869, 19713937, 21362556
GO:0032991	Component	Protein-containing complex	IDA	25378300
GO:0034061	Function	DNA polymerase activity	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048535	Process	Lymph node development	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051575	Function	5'-deoxyribose-5-phosphate lyase activity	IDA	9614142
GO:0051575	Function	5'-deoxyribose-5-phosphate lyase activity	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0071707	Process	Immunoglobulin heavy chain V-D-J recombination	IEA
GO:0071897	Process	DNA biosynthetic process	IEA
GO:0140078	Function	Class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	9614142
GO:0140078	Function	Class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA

Other IDs

• MIM: 174760
• HGNC: 9174
• e!Ensembl: ENSG00000070501

Protein

• UniProt ID: P06746
• Protein name: DNA polymerase beta (EC 2.7.7.7) (5'-deoxyribose-phosphate lyase) (5'-dRP lyase) (EC 4.2.99.-) (AP lyase) (EC 4.2.99.18)
• Protein function: Repair polymerase that plays a key role in base-excision repair (PubMed:10556592, PubMed:9207062, PubMed:9572863). During this process, the damaged base is excised by specific DNA glycosylases, the DNA backbone is nicked at the abasic site by an
• PDB: 1BPX, 1BPY, 1BPZ, 1MQ2, 1MQ3, 1TV9, 1TVA, 1ZJM, 1ZJN, 1ZQA, 1ZQB, 1ZQC, 1ZQD, 1ZQE, 1ZQF, 1ZQG, 1ZQH, 1ZQI, 1ZQJ, 1ZQK, 1ZQL, 1ZQM, 1ZQN, 1ZQO, 1ZQP, 1ZQQ, 1ZQR, 1ZQS, 1ZQT, 2FMP, 2FMQ, 2FMS, 2I9G, 2ISO, 2ISP, 2P66, 2PXI, 3C2K, 3C2L, 3C2M, 3GDX, 3ISB, 3ISC, 3ISD, 3JPN, 3JPO, 3JPP, 3JPQ, 3JPR, 3JPS, 3JPT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14716	HHH_8	12 → 78	Helix-hairpin-helix domain	Domain
  PF10391	DNA_pol_lambd_f	98 → 147	Fingers domain of DNA polymerase lambda	Domain
  PF14792	DNA_pol_B_palm	149 → 262	DNA polymerase beta palm	Domain
  PF14791	DNA_pol_B_thumb	268 → 334	DNA polymerase beta thumb	Family

• Sequence:

  MSKRKAPQETLNGGITDMLTELANFEKNVSQAIHKYNAYRKAASVIAKYPHKIKSGAEAK
  KLPGVGTKIAEKIDEFLATGKLRKLEKIRQDDTSSSINFLTRVSGIGPSAARKFVDEGIK
  TLEDLRKNEDKLNHHQRIGLKYFGDFEKRIPREEMLQMQDIVLNEVKKVDSEYIATVCGS
  FRRGAESSGDMDVLLTHPSFTSESTKQPKLLHQVVEQLQKVHFITDTLSKGETKFMGVCQ
  LPSKNDEKEYPHRRIDIRLIPKDQYYCGVLYFTGSDIFNKNMRAHALEKGFTINEYTIRP
  LGVTGVAGEPLPVDSEKDIFDYIQWKYREPKDRSE

• Sequence length: 335

Pathways

KEGG:

Base excision repair
Human T-cell leukemia virus 1 infection
Viral carcinogenesis

Reactome:

POLB-Dependent Long Patch Base Excision Repair
Resolution of AP sites via the multiple-nucleotide patch replacement pathway
Resolution of AP sites via the single-nucleotide replacement pathway
APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
PCNA-Dependent Long Patch Base Excision Repair
Ub-specific processing proteases
Abasic sugar-phosphate removal via the single-nucleotide replacement pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma Mucinous	Associate	22799326	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of Lung	Associate	27655641	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Associate	17065437, 17704129, 27234294, 31415677	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Associate	33673690	★☆☆☆☆ Found in Text Mining only
Argininosuccinic Aciduria	Associate	18039710	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Associate	8692923	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	12064574, 18477668, 24462520, 9294209	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	34406589	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	24382701, 26238022, 33314687	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Associate	34406589	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	34045188	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Associate	34406589	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	33674744	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	12064574	★☆☆☆☆ Found in Text Mining only
Cell Transformation Neoplastic	Associate	12064574	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	22650412, 28945359	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Associate	24259968, 25030372, 25933036, 26649135, 9294209	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Inhibit	40527798	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Inhibit	27019630	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Stimulate	27019630	★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	20068071, 21377995	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Associate	16094698, 25015190, 26527528	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Associate	23749489, 23959474	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Associate	7592950	★☆☆☆☆ Found in Text Mining only
Glioma	Associate	21377995	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Inhibit	20227038	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	36624848	★☆☆☆☆ Found in Text Mining only
Lead Poisoning Nervous System	Associate	25933036	★☆☆☆☆ Found in Text Mining only
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	16739313	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	22382497, 33314687	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Associate	27569236	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	25561897	★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Associate	33673690, 36624848	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Inhibit	27019630	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Associate	7592950	★☆☆☆☆ Found in Text Mining only
Necrosis	Inhibit	34406589	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	37240218	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	10782890, 12064574, 12087186, 18039710, 19167932, 21107011, 21305655, 21377995, 22650412, 22901161, 23877444, 24133209, 25015190, 25205036, 25237188, 26090616, 26238022, 26527528, 27655641, 28475635, 28945359, 28976878, 29524322, 31287140, 33673690, 36624848, 36982964, 37240218, 9294209	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	24462520	★☆☆☆☆ Found in Text Mining only
Neoplasms Squamous Cell	Associate	33673690	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Associate	36982964	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Associate	14654691	★☆☆☆☆ Found in Text Mining only
Non Muscle Invasive Bladder Neoplasms	Stimulate	33004944	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Associate	22799326, 23144153	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	22799326, 22901161, 23098424, 23144153, 26745057, 29524322, 33674744	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	17230526	★☆☆☆☆ Found in Text Mining only
Personality Disorders	Associate	24462520	★☆☆☆☆ Found in Text Mining only
Personality Disorders	Inhibit	34406589	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	12064574, 18623241, 21305655, 23877444	★☆☆☆☆ Found in Text Mining only
Prostatitis	Associate	12064574, 21305655, 23877444	★☆☆☆☆ Found in Text Mining only
Radiation Injuries	Associate	17705630	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Associate	28976878	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	27906459, 31981740	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Stimulate	28415784	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	18039710, 23144153, 25561897, 26090616	★☆☆☆☆ Found in Text Mining only
Tertiary Lymphoid Structures	Associate	33673690	★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Associate	33314687	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Associate	26267318	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	24382701	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Varicocele	Associate	3181490	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Associate	866172	★☆☆☆☆ Found in Text Mining only