• Gene id: 51426

Gene Summary

• Gene Symbol: POLK   Gene   UCSC   Ensembl
• Aliases: DINB1, DINP, POLQ
• Gene name: DNA polymerase kappa
• Alternate names: DNA polymerase kappa, polymerase (DNA directed) kappa,
• Gene location: 5q13.3 (75511307: 75605819)     Exons: 21     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 605650

Protein Summary

• Protein general information: Q9UBT6  
  • Name: DNA polymerase kappa (EC 2.7.7.7) (DINB protein) (DINP)
  • Length: 870  
  • Mass: 98809
  • 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
• Sequence:

  MDSTKEKCDSYKDDLLLRMGLNDNKAGMEGLDKEKINKIIMEATKGSRFYGNELKKEKQVNQRIENMMQQKAQIT
  SQQLRKAQLQVDRFAMELEQSRNLSNTIVHIDMDAFYAAVEMRDNPELKDKPIAVGSMSMLSTSNYHARRFGVRA
  AMPGFIAKRLCPQLIIVPPNFDKYRAVSKEVKEILADYDPNFMAMSLDEAYLNITKHLEERQNWPEDKRRYFIKM
  GSSVENDNPGKEVNKLSEHERSISPLLFEESPSDVQPPGDPFQVNFEEQNNPQILQNSVVFGTSAQEVVKEIRFR
  IEQKTTLTASAGIAPNTMLAKVCSDKNKPNGQYQILPNRQAVMDFIKDLPIRKVSGIGKVTEKMLKALGIITCTE
  LYQQRALLSLLFSETSWHYFLHISLGLGSTHLTRDGERKSMSVERTFSEINKAEEQYSLCQELCSELAQDLQKER
  LKGRTVTIKLKNVNFEVKTRASTVSSVVSTAEEIFAIAKELLKTEIDADFPHPLRLRLMGVRISSFPNEEDRKHQ
  QRSIIGFLQAGNQALSATECTLEKTDKDKFVKPLEMSHKKSFFDKKRSERKWSHQDTFKCEAVNKQSFQTSQPFQ
  VLKKKMNENLEISENSDDCQILTCPVCFRAQGCISLEALNKHVDECLDGPSISENFKMFSCSHVSATKVNKKENV
  PASSLCEKQDYEAHPKIKEISSVDCIALVDTIDNSSKAESIDALSNKHSKEECSSLPSKSFNIEHCHQNSSSTVS
  LENEDVGSFRQEYRQPYLCEVKTGQALVCPVCNVEQKTSDLTLFNVHVDVCLNKSFIQELRKDKFNPVNQPKESS
  RSTGSSSGVQKAVTRTKRPGLMTKYSTSKKIKPNNPKHTLDIFFK

• Structural information:
  • Protein Domains: (103..35-)
    (/note="UmuC"-)
  • Interpro: IPR036775  IPR017961  IPR022880  IPR024728  IPR001126   IPR006642  
  • Prosite: PS50173 PS51908
  • CDD: cd03586
  • PDB: 1T94 2LSI 2OH2 2W7O 2W7P 3IN5 3PZP 4BA9 4GK5 4U6P 4U7C 5T14 5W2A 5W2C 6BRX 6BS1 6CST
  • PDBsum: 1T94 2LSI 2OH2 2W7O 2W7P 3IN5 3PZP 4BA9 4GK5 4U6P 4U7C 5T14 5W2A 5W2C 6BRX 6BS1 6CST
  • STRING: ENSP00000241436
• Other Databases: GeneCards:  POLK  Malacards:  POLK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019985	translesion synthesis	IBA	biological process
GO:0042276	error-prone translesion synthesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IBA	molecular function
GO:0090734	site of DNA damage	IDA	colocalizes with
GO:0006281	DNA repair	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0034644	cellular response to UV	IDA	biological process
GO:0042276	error-prone translesion synthesis	IDA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0042276	error-prone translesion synthesis	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0006297	nucleotide-excision repair, DNA gap filling	TAS	biological process
GO:0019985	translesion synthesis	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0006297	nucleotide-excision repair, DNA gap filling	IMP	biological process
GO:0006281	DNA repair	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05169	Epstein-Barr virus infection
hsa05202	Transcriptional misregulation in cancer
hsa05225	Hepatocellular carcinoma
hsa05226	Gastric cancer
hsa05224	Breast cancer
hsa05222	Small cell lung cancer
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05217	Basal cell carcinoma
hsa05214	Glioma
hsa05212	Pancreatic cancer
hsa05218	Melanoma
hsa05223	Non-small cell lung cancer
hsa03460	Fanconi anemia pathway
hsa05213	Endometrial cancer
hsa05216	Thyroid cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq