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

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	201973
Gene name Gene Name - the full gene name approved by the HGNC.	Primase and DNA directed polymerase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PRIMPOL
Synonyms (NCBI Gene) Gene synonyms aliases	CCDC111, MYP22, Primpol1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MYP22
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q35.1
Summary Summary of gene provided in NCBI Entrez Gene.	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(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0003682	Function	Chromatin binding	IDA	24240614, 28534480
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA	21873635
GO:0003887	Function	DNA-directed DNA polymerase activity	IDA	24207056, 25746449
GO:0003896	Function	DNA primase activity	IBA	21873635
GO:0003896	Function	DNA primase activity	IDA	24207056, 24240614, 24267451, 24682820, 28534480, 29608762, 30478192
GO:0005515	Function	Protein binding	IPI	24126761, 28534480, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	24207056, 24240614
GO:0005657	Component	Replication fork	IDA	28534480
GO:0005759	Component	Mitochondrial matrix	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	IDA	24207056
GO:0006264	Process	Mitochondrial DNA replication	IBA	21873635
GO:0006264	Process	Mitochondrial DNA replication	IMP	24207056
GO:0006269	Process	DNA replication, synthesis of RNA primer	IEA
GO:0008270	Function	Zinc ion binding	IDA	24682820
GO:0009411	Process	Response to UV	IBA	21873635
GO:0009411	Process	Response to UV	IDA	24240614, 24267451
GO:0019985	Process	Translesion synthesis	IBA	21873635
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	21873635
GO:0031297	Process	Replication fork processing	IDA	28534480
GO:0031297	Process	Replication fork processing	IMP	24240614, 24267451
GO:0042276	Process	Error-prone translesion synthesis	IDA	24682820, 25746449, 28534480
GO:0043504	Process	Mitochondrial DNA repair	ISS
GO:0062176	Process	R-loop disassembly	IDA	30478192

MIM	HGNC	e!Ensembl
615421	26575	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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Myopia	Myopia, MYOPIA 22, AUTOSOMAL DOMINANT	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)	25262353, 23579484

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Aortic Valve Stenosis	Associate	32375772
Attention Deficit Disorder with Hyperactivity	Associate	32375772
Carcinoma Renal Cell	Stimulate	37391787
Glioblastoma	Stimulate	37391787
Glioma	Associate	37391787
Myopia	Associate	25262353, 32375772, 34302490, 37191617
Neoplasms	Associate	36647718, 37391787
Retinal Diseases	Associate	37191617
Xeroderma pigmentosum variant type	Associate	34645815

PRIMPOL (primase and DNA directed polymerase)