POLL (DNA polymerase lambda)

Gene

• Entrez ID: 27343
• Gene name: DNA polymerase lambda
• Gene symbol: POLL
• Synonyms (NCBI Gene): BETAN, POLKAPPA
• Chromosome: 10
• Chromosome location: 10q24.32
• Summary: This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3`-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT710046	hsa-miR-1914-5p	HITS-CLIP	19536157
MIRT710045	hsa-miR-3920	HITS-CLIP	19536157
MIRT710044	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT710043	hsa-miR-134-3p	HITS-CLIP	19536157
MIRT710042	hsa-miR-145-3p	HITS-CLIP	19536157
MIRT710041	hsa-miR-27a-5p	HITS-CLIP	19536157
MIRT710040	hsa-miR-4417	HITS-CLIP	19536157
MIRT710039	hsa-miR-3192-3p	HITS-CLIP	19536157
MIRT710038	hsa-miR-4265	HITS-CLIP	19536157
MIRT710037	hsa-miR-4296	HITS-CLIP	19536157
MIRT710036	hsa-miR-4322	HITS-CLIP	19536157
MIRT710035	hsa-miR-4762-3p	HITS-CLIP	19536157
MIRT710034	hsa-miR-125a-3p	HITS-CLIP	19536157
MIRT710033	hsa-miR-764	HITS-CLIP	19536157
MIRT710032	hsa-miR-3934-5p	HITS-CLIP	19536157
MIRT710031	hsa-miR-4301	HITS-CLIP	19536157
MIRT710030	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT710029	hsa-miR-3934-3p	HITS-CLIP	19536157
MIRT710028	hsa-miR-24-3p	HITS-CLIP	19536157
MIRT710027	hsa-miR-3157-5p	HITS-CLIP	19536157
MIRT710026	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT710025	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT710046	hsa-miR-1914-5p	HITS-CLIP	19536157
MIRT710045	hsa-miR-3920	HITS-CLIP	19536157
MIRT710044	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT710043	hsa-miR-134-3p	HITS-CLIP	19536157
MIRT710042	hsa-miR-145-3p	HITS-CLIP	19536157
MIRT710041	hsa-miR-27a-5p	HITS-CLIP	19536157
MIRT710040	hsa-miR-4417	HITS-CLIP	19536157
MIRT710039	hsa-miR-3192-3p	HITS-CLIP	19536157
MIRT710038	hsa-miR-4265	HITS-CLIP	19536157
MIRT710037	hsa-miR-4296	HITS-CLIP	19536157
MIRT710036	hsa-miR-4322	HITS-CLIP	19536157
MIRT710035	hsa-miR-4762-3p	HITS-CLIP	19536157
MIRT710034	hsa-miR-125a-3p	HITS-CLIP	19536157
MIRT710033	hsa-miR-764	HITS-CLIP	19536157
MIRT710032	hsa-miR-3934-5p	HITS-CLIP	19536157
MIRT710031	hsa-miR-4301	HITS-CLIP	19536157
MIRT710030	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT710029	hsa-miR-3934-3p	HITS-CLIP	19536157
MIRT710028	hsa-miR-24-3p	HITS-CLIP	19536157
MIRT710027	hsa-miR-3157-5p	HITS-CLIP	19536157
MIRT710026	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT710025	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT1248043	hsa-miR-1976	CLIP-seq
MIRT1248044	hsa-miR-370	CLIP-seq
MIRT1248045	hsa-miR-4691-3p	CLIP-seq
MIRT1248043	hsa-miR-1976	CLIP-seq
MIRT2073210	hsa-miR-3662	CLIP-seq
MIRT2073211	hsa-miR-3675-5p	CLIP-seq
MIRT1248044	hsa-miR-370	CLIP-seq
MIRT2073212	hsa-miR-4720-3p	CLIP-seq
MIRT2073213	hsa-miR-4804-3p	CLIP-seq
MIRT2597097	hsa-miR-1184	CLIP-seq
MIRT2597098	hsa-miR-1301	CLIP-seq
MIRT2597099	hsa-miR-2115	CLIP-seq
MIRT2597100	hsa-miR-2277-3p	CLIP-seq
MIRT2597101	hsa-miR-3177-3p	CLIP-seq
MIRT2597102	hsa-miR-3182	CLIP-seq
MIRT2597103	hsa-miR-331-3p	CLIP-seq
MIRT2597104	hsa-miR-4286	CLIP-seq
MIRT2597105	hsa-miR-4660	CLIP-seq
MIRT2597106	hsa-miR-5047	CLIP-seq
MIRT2597107	hsa-miR-516a-3p	CLIP-seq
MIRT2597108	hsa-miR-642a	CLIP-seq
MIRT2597097	hsa-miR-1184	CLIP-seq
MIRT2597098	hsa-miR-1301	CLIP-seq
MIRT2597102	hsa-miR-3182	CLIP-seq
MIRT2597104	hsa-miR-4286	CLIP-seq
MIRT2597105	hsa-miR-4660	CLIP-seq
MIRT2597106	hsa-miR-5047	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	20693240
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	10982892
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IDA	19806195
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	NAS	10982892
GO:0003887	Function	DNA-directed DNA polymerase activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 30250067, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	10982892
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	NAS	10982892
GO:0006281	Process	DNA repair	IEA
GO:0006287	Process	Base-excision repair, gap-filling	IDA	19806195
GO:0006289	Process	Nucleotide-excision repair	IDA	10982892
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IDA	30250067
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	19806195
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0006974	Process	DNA damage response	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	NAS	10982892
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0034061	Function	DNA polymerase activity	IEA
GO:0035861	Component	Site of double-strand break	IDA	30250067
GO:0046872	Function	Metal ion binding	IEA
GO:0051575	Function	5'-deoxyribose-5-phosphate lyase activity	IDA	19806195
GO:0071897	Process	DNA biosynthetic process	IDA	19806195
GO:0071897	Process	DNA biosynthetic process	IEA

Other IDs

• MIM: 606343
• HGNC: 9184
• e!Ensembl: ENSG00000166169

Protein

• UniProt ID: Q9UGP5
• Protein name: DNA polymerase lambda (Pol Lambda) (EC 2.7.7.7) (EC 4.2.99.-) (DNA polymerase beta-2) (Pol beta2) (DNA polymerase kappa)
• Protein function: DNA polymerase that functions in several pathways of DNA repair (PubMed:11457865, PubMed:19806195, PubMed:20693240, PubMed:30250067). Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in
• PDB: 1NZP, 1RZT, 1XSL, 1XSN, 1XSP, 2BCQ, 2BCR, 2BCS, 2BCU, 2BCV, 2GWS, 2JW5, 2PFN, 2PFO, 2PFP, 2PFQ, 3C5F, 3C5G, 3HW8, 3HWT, 3HX0, 3MDA, 3MDC, 3MGH, 3MGI, 3PML, 3PMN, 3PNC, 3UPQ, 3UQ0, 3UQ2, 4FO6, 4K4G, 4K4H, 4K4I, 4X5V, 4XA5, 4XQ8, 4XRH, 4XUS, 5CA7, 5CB1, 5CHG, 5CJ7, 5CP2, 5CR0, 5CWR, 5DDM, 5DDY, 5DKW, 5III
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14716	HHH_8	253 → 318	Helix-hairpin-helix domain	Domain
  PF10391	DNA_pol_lambd_f	336 → 384	Fingers domain of DNA polymerase lambda	Domain
  PF14792	DNA_pol_B_palm	386 → 496	DNA polymerase beta palm	Domain
  PF14791	DNA_pol_B_thumb	502 → 574	DNA polymerase beta thumb	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a number of tissues. Abundant in testis. {ECO:0000269|PubMed:10982892}.
• Sequence:

  MDPRGILKAFPKRQKIHADASSKVLAKIPRREEGEEAEEWLSSLRAHVVRTGIGRARAEL
  FEKQIVQHGGQLCPAQGPGVTHIVVDEGMDYERALRLLRLPQLPPGAQLVKSAWLSLCLQ
  ERRLVDVAGFSIFIPSRYLDHPQPSKAEQDASIPPGTHEALLQTALSPPPPPTRPVSPPQ
  KAKEAPNTQAQPISDDEASDGEETQVSAADLEALISGHYPTSLEGDCEPSPAPAVLDKWV
  CAQPSSQKATNHNLHITEKLEVLAKAYSVQGDKWRALGYAKAINALKSFHKPVTSYQEAC
  SIPGIGKRMAEKIIEILESGHLRKLDHISESVPVLELFSNIWGAGTKTAQMWYQQGFRSL
  EDIRSQASLTTQQAIGLKHYSDFLERMPREEATEIEQTVQKAAQAFNSGLLCVACGSYRR
  GKATCGDVDVLITHPDGRSHRGIFSRLLDSLRQEGFLTDDLVSQEENGQQQKYLGVCRLP
  GPGRRHRRLDIIVVPYSEFACALLYFTGSAHFNRSMRALAKTKGMSLSEHALSTAVVRNT
  HGCKVGPGRVLPTPTEKDVFRLLGLPYREPAERDW

• Sequence length: 575

Pathways

KEGG:

Base excision repair
Non-homologous end-joining

Reactome:

Nonhomologous End-Joining (NHEJ)

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
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLL-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
beta Thalassemia	Beta thalassemia	Pubtator	20181291, 31906886, 32419356, 34752669	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23830898, 26765445, 27621267		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23830898, 27621267	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32345725	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12036445		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11454676, 15202001		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	BEFREE	11909969		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17099721		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	31294882		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22509890	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26651356, 31082191		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26651356, 31082191		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20164241, 23056190	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31595696		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	34511175	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36595475	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17653665		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15202001, 15665310		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24012694	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23830898, 26765445, 27621267		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11454676, 15202001, 15665310		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23830898		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23830898		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32345725	Stimulate	★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	11909969		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23830898		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18623241	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	19117014	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	30137433		★☆☆☆☆ Found in Text Mining only