• Gene id: 5429

Gene Summary

• Gene Symbol: POLH   Gene   UCSC   Ensembl
• Aliases: RAD30, RAD30A, XP-V, XPV
• Gene name: DNA polymerase eta
• Alternate names: DNA polymerase eta, RAD30 homolog A, polymerase (DNA directed), eta, polymerase (DNA) eta, xeroderma pigmentosum variant type protein,
• Gene location: 6p21.1 (78264144: 78282195)     Exons: 10     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymeras
• OMIM: 603968

Protein Summary

• Protein general information: Q9Y253  
  • Name: DNA polymerase eta (EC 2.7.7.7) (RAD30 homolog A) (Xeroderma pigmentosum variant type protein)
  • Length: 713  
  • Mass: 78413
• Sequence:

  MATGQDRVVALVDMDCFFVQVEQRQNPHLRNKPCAVVQYKSWKGGGIIAVSYEARAFGVTRSMWADDAKKLCPDL
  LLAQVRESRGKANLTKYREASVEVMEIMSRFAVIERASIDEAYVDLTSAVQERLQKLQGQPISADLLPSTYIEGL
  PQGPTTAEETVQKEGMRKQGLFQWLDSLQIDNLTSPDLQLTVGAVIVEEMRAAIERETGFQCSAGISHNKVLAKL
  ACGLNKPNRQTLVSHGSVPQLFSQMPIRKIRSLGGKLGASVIEILGIEYMGELTQFTESQLQSHFGEKNGSWLYA
  MCRGIEHDPVKPRQLPKTIGCSKNFPGKTALATREQVQWWLLQLAQELEERLTKDRNDNDRVATQLVVSIRVQGD
  KRLSSLRRCCALTRYDAHKMSHDAFTVIKNCNTSGIQTEWSPPLTMLFLCATKFSASAPSSSTDITSFLSSDPSS
  LPKVPVTSSEAKTQGSGPAVTATKKATTSLESFFQKAAERQKVKEASLSSLTAPTQAPMSNSPSKPSLPFQTSQS
  TGTEPFFKQKSLLLKQKQLNNSSVSSPQQNPWSNCKALPNSLPTEYPGCVPVCEGVSKLEESSKATPAEMDLAHN
  SQSMHASSASKSVLEVTQKATPNPSLLAAEDQVPCEKCGSLVPVWDMPEHMDYHFALELQKSFLQPHSSNPQVVS
  AVSHQGKRNPKSPLACTNKRPRPEGMQTLESFFKPLTH

• Structural information:
  • Protein Domains: (9..25-)
    (/note="UmuC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00216"-)
  • Interpro: IPR036775  IPR017961  IPR001126  IPR041298  
  • Prosite: PS50173 PS51907
  • PDB: 2I5O 2LSK 3JAA 3MR2 3MR3 3MR5 3MR6 3SI8 3TQ1 3WUP 4DL2 4DL3 4DL4 4DL5 4DL6 4DL7 4ECQ 4ECR 4ECS 4ECT 4ECU 4ECV 4ECW 4ECX 4ECY 4ECZ 4ED0 4ED1 4ED2 4ED3 4ED6 4ED7 4ED8 4EEY 4J9K 4J9L 4J9M 4J9N 4J9O 4J9P 4J9Q 4J9R 4J9S 4O3N 4O3O 4O3P 4O3Q 4O3R 4O3S 4Q8E 4Q8F 4RNM 4RNN 4RNO 4RU9 4YP3 4YQW 4YR0 4YR2 4YR3 5DG7 5DG8 5DG9 5DG
  • PDBsum: 2I5O 2LSK 3JAA 3MR2 3MR3 3MR5 3MR6 3SI8 3TQ1 3WUP 4DL2 4DL3 4DL4 4DL5 4DL6 4DL7 4ECQ 4ECR 4ECS 4ECT 4ECU 4ECV 4ECW 4ECX 4ECY 4ECZ 4ED0 4ED1 4ED2 4ED3 4ED6 4ED7 4ED8 4EEY 4J9K 4J9L 4J9M 4J9N 4J9O 4J9P 4J9Q 4J9R 4J9S 4O3N 4O3O 4O3P 4O3Q 4O3R 4O3S 4Q8E 4Q8F 4RNM 4RNN 4RNO 4RU9 4YP3 4YQW 4YR0 4YR2 4YR3 5DG7 5DG8 5DG9 5DG
  • STRING: ENSP00000361310
• Other Databases: GeneCards:  POLH  Malacards:  POLH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003887	DNA-directed DNA polymerase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005657	replication fork	IBA	cellular component
GO:0009314	response to radiation	IBA	biological process
GO:0035861	site of double-strand break	IBA	cellular component
GO:0042276	error-prone translesion synthesis	IBA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
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:0005634	nucleus	IEA	cellular component
GO:0003684	damaged DNA binding	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
GO:0006282	regulation of DNA repair	TAS	biological process
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:0003887	DNA-directed DNA polymerase activity	TAS	molecular function
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:0019985	translesion synthesis	TAS	biological process
GO:0070987	error-free translesion synthesis	TAS	biological process
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:0071494	cellular response to UV-C	IEA	biological process
GO:0006301	postreplication repair	IEA	biological process
GO:0006290	pyrimidine dimer repair	IEA	biological process
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0010225	response to UV-C	IDA	biological process
GO:0000731	DNA synthesis involved in DNA repair	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway
hsa01524	Platinum drug resistance

Diseases

Associated diseases	References
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R