• Gene id: 353497

Gene Summary

• Gene Symbol: POLN   Gene   UCSC   Ensembl
• Aliases: POL4P
• Gene name: DNA polymerase nu
• Alternate names: DNA polymerase nu, DNA polymerase N, DNA polymerase POL4P, polymerase (DNA directed) nu, polymerase (DNA) nu,
• Gene location: 4p16.3 (2242120: 2071917)     Exons: 26     NC_000004.12
• Gene summary(Entrez): This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like prote
• OMIM: 147781

Protein Summary

• Protein general information: Q7Z5Q5  
  • Name: DNA polymerase nu (EC 2.7.7.7)
  • Length: 900  
  • Mass: 100307
  • Tissue specificity: Highly expressed in testis and heart. Weakly expressed in skeletal muscle. {ECO
• Sequence:

  MENYEALVGFDLCNTPLSSVAQKIMSAMHSGDLVDSKTWGKSTETMEVINKSSVKYSVQLEDRKTQSPEKKDLKS
  LRSQTSRGSAKLSPQSFSVRLTDQLSADQKQKSISSLTLSSCLIPQYNQEASVLQKKGHKRKHFLMENINNENKG
  SINLKRKHITYNNLSEKTSKQMALEEDTDDAEGYLNSGNSGALKKHFCDIRHLDDWAKSQLIEMLKQAAALVITV
  MYTDGSTQLGADQTPVSSVRGIVVLVKRQAEGGHGCPDAPACGPVLEGFVSDDPCIYIQIEHSAIWDQEQEAHQQ
  FARNVLFQTMKCKCPVICFNAKDFVRIVLQFFGNDGSWKHVADFIGLDPRIAAWLIDPSDATPSFEDLVEKYCEK
  SITVKVNSTYGNSSRNIVNQNVRENLKTLYRLTMDLCSKLKDYGLWQLFRTLELPLIPILAVMESHAIQVNKEEM
  EKTSALLGARLKELEQEAHFVAGERFLITSNNQLREILFGKLKLHLLSQRNSLPRTGLQKYPSTSEAVLNALRDL
  HPLPKIILEYRQVHKIKSTFVDGLLACMKKGSISSTWNQTGTVTGRLSAKHPNIQGISKHPIQITTPKNFKGKED
  KILTISPRAMFVSSKGHTFLAADFSQIELRILTHLSGDPELLKLFQESERDDVFSTLTSQWKDVPVEQVTHADRE
  QTKKVVYAVVYGAGKERLAACLGVPIQEAAQFLESFLQKYKKIKDFARAAIAQCHQTGCVVSIMGRRRPLPRIHA
  HDQQLRAQAERQAVNFVVQGSAADLCKLAMIHVFTAVAASHTLTARLVAQIHDELLFEVEDPQIPECAALVRRTM
  ESLEQVQALELQLQVPLKVSLSAGRSWGHLVPLQEAWGPPPGPCRTESPSNSLAAPGSPASTQPPPLHFSPSFCL

• Structural information:
  • Interpro: IPR001098  IPR040940  IPR002298  IPR036397  
  • PDB: 4XVI 4XVK 4XVL 4XVM
  • PDBsum: 4XVI 4XVK 4XVL 4XVM
  • STRING: ENSP00000435506
• Other Databases: GeneCards:  POLN  Malacards:  POLN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0019985	translesion synthesis	IDA	biological process
GO:0005730	nucleolus	IDA	NOT|cellular component
GO:0030332	cyclin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0036297	interstrand cross-link repair	IMP	biological process
GO:0019985	translesion synthesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0036297	interstrand cross-link repair	IMP	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0006261	DNA-dependent DNA replication	IEA	biological process
GO:0006261	DNA-dependent DNA replication	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
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:0005654	nucleoplasm	TAS	cellular component
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq