• Gene id: 11201

Gene Summary

• Gene Symbol: POLI   Gene   UCSC   Ensembl
• Aliases: RAD30B, RAD3OB, eta2
• Gene name: DNA polymerase iota
• Alternate names: DNA polymerase iota, RAD30 homolog B, polymerase (DNA directed) iota, polymerase (DNA) iota, polymerase (DNA-directed), iota,
• Gene location: 18q21.2 (54269478: 54321265)     Exons: 13     NC_000018.10
• Gene summary(Entrez): The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides acr
• OMIM: 605252

Protein Summary

• Protein general information: Q9UNA4  
  • Name: DNA polymerase iota (EC 2.7.7.7) (Eta2) (RAD30 homolog B)
  • Length: 740  
  • Mass: 83006
  • Tissue specificity: Ubiquitous. Highly expressed in testis. {ECO
• Sequence:

  MEKLGVEPEEEGGGDDDEEDAEAWAMELADVGAAASSQGVHDQVLPTPNASSRVIVHVDLDCFYAQVEMISNPEL
  KDKPLGVQQKYLVVTCNYEARKLGVKKLMNVRDAKEKCPQLVLVNGEDLTRYREMSYKVTELLEEFSPVVERLGF
  DENFVDLTEMVEKRLQQLQSDELSAVTVSGHVYNNQSINLLDVLHIRLLVGSQIAAEMREAMYNQLGLTGCAGVA
  SNKLLAKLVSGVFKPNQQTVLLPESCQHLIHSLNHIKEIPGIGYKTAKCLEALGINSVRDLQTFSPKILEKELGI
  SVAQRIQKLSFGEDNSPVILSGPPQSFSEEDSFKKCSSEVEAKNKIEELLASLLNRVCQDGRKPHTVRLIIRRYS
  SEKHYGRESRQCPIPSHVIQKLGTGNYDVMTPMVDILMKLFRNMVNVKMPFHLTLLSVCFCNLKALNTAKKGLID
  YYLMPSLSTTSRSGKHSFKMKDTHMEDFPKDKETNRDFLPSGRIESTRTRESPLDTTNFSKEKDINEFPLCSLPE
  GVDQEVFKQLPVDIQEEILSGKSREKFQGKGSVSCPLHASRGVLSFFSKKQMQDIPINPRDHLSSSKQVSSVSPC
  EPGTSGFNSSSSSYMSSQKDYSYYLDNRLKDERISQGPKEPQGFHFTNSNPAVSAFHSFPNLQSEQLFSRNHTTD
  SHKQTVATDSHEGLTENREPDSVDEKITFPSDIDPQVFYELPEAVQKELLAEWKRAGSDFHIGHK

• Structural information:
  • Protein Domains: (55..26-)
    (/note="UmuC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00216"-)
  • Interpro: IPR036775  IPR017961  IPR001126  
  • Prosite: PS50173
  • PDB: 1T3N 1ZET 2ALZ 2DPI 2DPJ 2FLL 2FLN 2FLP 2KHU 2KHW 2KTF 2L0F 2L0G 2MBB 3EPG 3EPI 3G6V 3G6X 3G6Y 3GV5 3GV7 3GV8 3H40 3H4B 3H4D 3NGD 3OSN 3Q8P 3Q8Q 3Q8R 3Q8S 4EBC 4EBD 4EBE 4EYH 4EYI 4FS1 4FS2 5KT2 5KT3 5KT4 5KT5 5KT6 5KT7 5ULW 5ULX
  • PDBsum: 1T3N 1ZET 2ALZ 2DPI 2DPJ 2FLL 2FLN 2FLP 2KHU 2KHW 2KTF 2L0F 2L0G 2MBB 3EPG 3EPI 3G6V 3G6X 3G6Y 3GV5 3GV7 3GV8 3H40 3H4B 3H4D 3NGD 3OSN 3Q8P 3Q8Q 3Q8R 3Q8S 4EBC 4EBD 4EBE 4EYH 4EYI 4FS1 4FS2 5KT2 5KT3 5KT4 5KT5 5KT6 5KT7 5ULW 5ULX
  • STRING: ENSP00000462664
• Other Databases: GeneCards:  POLI  Malacards:  POLI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019985	translesion synthesis	IBA	biological process
GO:0003887	DNA-directed DNA polymerase activity	IBA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
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:0019985	translesion synthesis	TAS	biological process
GO:0005622	intracellular	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881