Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	201973
Gene name	Primase and DNA directed polymerase
Gene symbol	PRIMPOL
Synonyms (NCBI Gene)	CCDC111MYP22Primpol1
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

Show/Hide all (1)

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

Show/Hide all (46)

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

MIM	HGNC	e!Ensembl
615421	26575	ENSG00000164306

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia 22, autosomal dominant	Uncertain significance	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PRIMPOL-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	32375772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	32375772	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37391787	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	31348995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37391787	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37391787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	25262353, 32375772, 34302490, 37191617	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA 22, AUTOSOMAL DOMINANT	Myopia	UNIPROT_DG	23579484, 25262353		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOPIA 22, AUTOSOMAL DOMINANT	Myopia	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOPIA 22, AUTOSOMAL DOMINANT	Myopia	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal Diseases	Retinal detachment	Pubtator	37191617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	23579484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum variant type	Xeroderma pigmentosum	Pubtator	34645815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRIMPOL (primase and DNA directed polymerase)