• Gene id: 201973

Gene Summary

• Gene Symbol: PRIMPOL   Gene   UCSC   Ensembl
• Aliases: CCDC111, MYP22, Primpol1
• Gene name: primase and DNA directed polymerase
• Alternate names: DNA-directed primase/polymerase protein, coiled-coil domain-containing protein 111, hPrimpol1,
• Gene location: 4q35.1 (184649671: 184694951)     Exons: 16     NC_000004.12
• Gene summary(Entrez): This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well

Protein Summary

• Protein general information: Q96LW4  
  • Name: DNA directed primase/polymerase protein (hPrimpol1) (EC 2.7.7. ) (Coiled coil domain containing protein 111)
  • Length: 560  
  • Mass: 64412
• Sequence:

  MNRKWEAKLKQIEERASHYERKPLSSVYRPRLSKPEEPPSIWRLFHRQAQAFNFVKSCKEDVHVFALECKVGDGQ
  RIYLVTTYAEFWFYYKSRKNLLHCYEVIPENAVCKLYFDLEFNKPANPGADGKKMVALLIEYVCKALQELYGVNC
  SAEDVLNLDSSTDEKFSRHLIFQLHDVAFKDNIHVGNFLRKILQPALDLLGSEDDDSAPETTGHGFPHFSEAPAR
  QGFSFNKMFTEKATEESWTSNSKKLERLGSAEQSSPDLSFLVVKNNMGEKHLFVDLGVYTRNRNFRLYKSSKIGK
  RVALEVTEDNKFFPIQSKDVSDEYQYFLSSLVSNVRFSDTLRILTCEPSQNKQKGVGYFNSIGTSVETIEGFQCS
  PYPEVDHFVLSLVNKDGIKGGIRRWNYFFPEELLVYDICKYRWCENIGRAHKSNNIMILVDLKNEVWYQKCHDPV
  CKAENFKSDCFPLPAEVCLLFLFKEEEEFTTDEADETRSNETQNPHKPSPSRLSTGASADAVWDNGIDDAYFLEA
  TEDAELAEAAENSLLSYNSEVDEIPDELIIEVLQE

• Structural information:
  • Interpro: IPR002755  
  • PDB: 5L2X 5N85 5N8A
  • PDBsum: 5L2X 5N85 5N8A
  • STRING: ENSP00000313816
• Other Databases: GeneCards:  PRIMPOL  Malacards:  PRIMPOL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031297	replication fork processing	IBA	biological process
GO:0019985	translesion synthesis	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0009411	response to UV	IBA	biological process
GO:0006264	mitochondrial DNA replication	IBA	biological process
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003896	DNA primase activity	IBA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IBA	molecular function
GO:0062176	R-loop disassembly	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0031297	replication fork processing	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003896	DNA primase activity	IDA	molecular function
GO:0005657	replication fork	IDA	cellular component
GO:0042276	error-prone translesion synthesis	IDA	biological process
GO:0003896	DNA primase activity	IDA	molecular function
GO:0042276	error-prone translesion synthesis	IDA	biological process
GO:0003896	DNA primase activity	IDA	molecular function
GO:0042276	error-prone translesion synthesis	IDA	biological process
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0003896	DNA primase activity	IDA	molecular function
GO:0009411	response to UV	IDA	biological process
GO:0009411	response to UV	IDA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003896	DNA primase activity	IDA	molecular function
GO:0003896	DNA primase activity	IDA	molecular function
GO:0003896	DNA primase activity	IDA	molecular function
GO:0003887	DNA-directed DNA polymerase activity	IDA	molecular function
GO:0031297	replication fork processing	IMP	biological process
GO:0031297	replication fork processing	IMP	biological process
GO:0030145	manganese ion binding	TAS	molecular function
GO:0019985	translesion synthesis	IMP	biological process
GO:0019985	translesion synthesis	IMP	biological process
GO:0043504	mitochondrial DNA repair	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006264	mitochondrial DNA replication	IMP	biological process
GO:0006269	DNA replication, synthesis of RNA primer	IEA	biological process
GO:0003896	DNA primase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003887	DNA-directed DNA polymerase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	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:0043504	mitochondrial DNA repair	IEA	biological process
GO:0006264	mitochondrial DNA replication	IEA	biological process
GO:0003896	DNA primase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component

Diseases

Associated diseases	References
Myopia	KEGG:H02041
Myopia	KEGG:H02041
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