Gene Gene information from NCBI Gene database.
Entrez ID 51426
Gene name DNA polymerase kappa
Gene symbol POLK
Synonyms (NCBI Gene)
DINB1DINPPOLQ
Chromosome 5
Chromosome location 5q13.3
Summary This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking
SNPs SNP information provided by dbSNP.
21
SNP ID Visualize variation Clinical significance Consequence
rs111584802 A>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs139591993 A>C,T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs148960463 G>A Pathogenic 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, intron variant
rs749804502 G>A,T Pathogenic Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs770984846 G>A Pathogenic Synonymous variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
356
miRTarBase ID miRNA Experiments Reference
MIRT017418 hsa-miR-335-5p Microarray 18185580
MIRT021743 hsa-miR-132-3p Microarray 17612493
MIRT1247981 hsa-miR-1185 CLIP-seq
MIRT1247982 hsa-miR-1224-5p CLIP-seq
MIRT1247983 hsa-miR-1237 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HSF1 Activation 22227292
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
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 IEA
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605650 9183 ENSG00000122008
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBT6
Protein name DNA polymerase kappa (EC 2.7.7.7) (DINB protein) (DINP)
Protein function DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base,
PDB 1T94 , 2LSI , 2OH2 , 2W7O , 2W7P , 3IN5 , 3PZP , 4BA9 , 4GK5 , 4U6P , 4U7C , 5T14 , 5W2A , 5W2C , 6BRX , 6BS1 , 6CST , 7NV0 , 7NV1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00817 IMS 106 325 impB/mucB/samB family Family
PF11798 IMS_HHH 339 370 IMS family HHH motif Motif
PF11799 IMS_C 407 526 impB/mucB/samB family C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected at low levels in testis, spleen, prostate and ovary. Detected at very low levels in kidney, colon, brain, heart, liver, lung, placenta, pancreas and peripheral blood leukocytes. {ECO:0000269|PubMed:10518552, ECO:0000269|PubMed
Sequence
MDSTKEKCDSYKDDLLLRMGLNDNKAGMEGLDKEKINKIIMEATKGSRFYGNELKKEKQV
NQRIENMMQQKAQITSQQLRKAQLQVDRFAMELEQSRNLSNTIVHIDMDAFYAAVEMRDN
PELKDKPIAVGSMSMLSTSNYHARRFGVRAAMPGFIAKRLCPQLIIVPPNFDKYRAVSKE
VKEILADYDPNFMAMSLDEAYLNITKHLEERQNWPEDKRRYFIKMGSSVENDNPGKEVNK
LSEHERSISPLLFEESPSDVQPPGDPFQVNFEEQNNPQILQNSVVFGTSAQEVVKEIRFR
IEQKTTLTASAGIAPNTMLAKVCSD
KNKPNGQYQILPNRQAVMDFIKDLPIRKVSGIGKV
TEKMLKALGI
ITCTELYQQRALLSLLFSETSWHYFLHISLGLGSTHLTRDGERKSMSVER
TFSEINKAEEQYSLCQELCSELAQDLQKERLKGRTVTIKLKNVNFEVKTRASTVSSVVST
AEEIFAIAKELLKTEIDADFPHPLRLRLMGVRISSFPNEEDRKHQQ
RSIIGFLQAGNQAL
SATECTLEKTDKDKFVKPLEMSHKKSFFDKKRSERKWSHQDTFKCEAVNKQSFQTSQPFQ
VLKKKMNENLEISENSDDCQILTCPVCFRAQGCISLEALNKHVDECLDGPSISENFKMFS
CSHVSATKVNKKENVPASSLCEKQDYEAHPKIKEISSVDCIALVDTIDNSSKAESIDALS
NKHSKEECSSLPSKSFNIEHCHQNSSSTVSLENEDVGSFRQEYRQPYLCEVKTGQALVCP
VCNVEQKTSDLTLFNVHVDVCLNKSFIQELRKDKFNPVNQPKESSRSTGSSSGVQKAVTR
TKRPGLMTKYSTSKKIKPNNPKHTLDIFFK
Sequence length 870
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fanconi anemia pathway
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Colorectal cancer
Pancreatic cancer
Endometrial cancer
Glioma
Thyroid cancer
Basal cell carcinoma
Melanoma
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  Translesion synthesis by POLK
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Prostate cancer Pathogenic rs786205688, rs749804502, rs1554059550, rs1554059573, rs111584802, rs770984846, rs1554062741, rs1554062789, rs1554062804, rs1304454699, rs1554063600, rs1554063656, rs139591993, rs1554064175, rs781194178
View all (4 more)
RCV000170553
RCV000170548
RCV000170545
RCV000170549
RCV000170550
RCV000170551
RCV000170552
RCV000170547
RCV000170564
RCV000170565
RCV000170561
RCV000170562
RCV000170557
RCV000170558
RCV000170559
RCV000170560
RCV000170555
RCV000170556
RCV000170563
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental delay Conflicting classifications of pathogenicity rs148960463 RCV001706187
Seizure Conflicting classifications of pathogenicity rs148960463 RCV001706187
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Nonobstructive Associate 38403804
Breast Neoplasms Associate 26765445, 29879995
Carcinoma Renal Cell Associate 37095444
Esophageal Squamous Cell Carcinoma Associate 36803971
Glioblastoma Associate 26651356, 31082191
Glioma Associate 23056190, 31595696
Kidney Neoplasms Associate 37095444
Leukemia Lymphoma Adult T Cell Inhibit 25185513
Lung Neoplasms Associate 24012694
Neoplasms Associate 24012694, 26765445, 30004685, 31595696, 33110154