PRIMPOL (primase and DNA directed polymerase)

Gene

• Entrez ID: 201973
• Gene name: Primase and DNA directed polymerase
• Gene symbol: PRIMPOL
• Synonyms (NCBI Gene): CCDC111, MYP22, Primpol1
• Chromosome: 4
• Chromosome location: 4q35.1
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200857997	T>C,G	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	24240614, 28534480
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IDA	24126761, 24207056, 25746449
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003899	Function	DNA-directed RNA polymerase activity	IBA
GO:0003899	Function	DNA-directed RNA polymerase activity	IDA	24126761, 24207056, 24240614, 24267451, 24682820, 28534480, 29608762, 30478192
GO:0003899	Function	DNA-directed RNA polymerase activity	IEA
GO:0005515	Function	Protein binding	IPI	24126761, 28534480, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24207056, 24240614
GO:0005634	Component	Nucleus	IEA
GO:0005657	Component	Replication fork	IDA	28534480
GO:0005694	Component	Chromosome	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IDA	24207056
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006264	Process	Mitochondrial DNA replication	IBA
GO:0006264	Process	Mitochondrial DNA replication	IEA
GO:0006264	Process	Mitochondrial DNA replication	IMP	24207056
GO:0006269	Process	DNA replication, synthesis of primer	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IDA	24682820
GO:0009411	Process	Response to UV	IBA
GO:0009411	Process	Response to UV	IDA	24240614, 24267451
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0019985	Process	Translesion synthesis	IBA
GO:0019985	Process	Translesion synthesis	IMP	24240614, 24267451
GO:0030145	Function	Manganese ion binding	IDA	25746449
GO:0030145	Function	Manganese ion binding	TAS	24207056
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IDA	28534480
GO:0031297	Process	Replication fork processing	IMP	24126761, 24240614, 24267451
GO:0034061	Function	DNA polymerase activity	IEA
GO:0042276	Process	Error-prone translesion synthesis	IDA	24682820, 25746449, 28534480
GO:0042276	Process	Error-prone translesion synthesis	IEA
GO:0043504	Process	Mitochondrial DNA repair	IEA
GO:0043504	Process	Mitochondrial DNA repair	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0062176	Process	R-loop processing	IDA	30478192

Other IDs

• MIM: 615421
• HGNC: 26575
• e!Ensembl: ENSG00000164306

Protein

• UniProt ID: Q96LW4
• Protein name: DNA-directed primase/polymerase protein (hPrimpol1) (EC 2.7.7.102) (EC 2.7.7.7) (Coiled-coil domain-containing protein 111)
• Protein function: DNA primase and DNA polymerase required to tolerate replication-stalling lesions by bypassing them (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:24682820, PubMed:25255211, PubMed:25262353, PubMed:25550423, PubMed:25
• PDB: 5L2X, 5N85, 5N8A, 7JK1, 7JKL, 7JKP, 7JL8, 7JLG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01896	DNA_primase_S	113 → 312	DNA primase small subunit	Family
  PF03121	Herpes_UL52	402 → 466		Family

• Sequence:

  MNRKWEAKLKQIEERASHYERKPLSSVYRPRLSKPEEPPSIWRLFHRQAQAFNFVKSCKE
  DVHVFALECKVGDGQRIYLVTTYAEFWFYYKSRKNLLHCYEVIPENAVCKLYFDLEFNKP
  ANPGADGKKMVALLIEYVCKALQELYGVNCSAEDVLNLDSSTDEKFSRHLIFQLHDVAFK
  DNIHVGNFLRKILQPALDLLGSEDDDSAPETTGHGFPHFSEAPARQGFSFNKMFTEKATE
  ESWTSNSKKLERLGSAEQSSPDLSFLVVKNNMGEKHLFVDLGVYTRNRNFRLYKSSKIGK
  RVALEVTEDNKFFPIQSKDVSDEYQYFLSSLVSNVRFSDTLRILTCEPSQNKQKGVGYFN
  SIGTSVETIEGFQCSPYPEVDHFVLSLVNKDGIKGGIRRWNYFFPEELLVYDICKYRWCE
  NIGRAHKSNNIMILVDLKNEVWYQKCHDPVCKAENFKSDCFPLPAEVCLLFLFKEEEEFT
  TDEADETRSNETQNPHKPSPSRLSTGASADAVWDNGIDDAYFLEATEDAELAEAAENSLL
  SYNSEVDEIPDELIIEVLQE

• Sequence length: 560

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