PRIMPOL - primase and DNA directed polymerase Gene

Also Known as MYP22; CCDC111; Primpol1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 201973

About PRIMPOL

Cytogenetic location: 4q35.1 Genomic coordinates (GRCh38): 4:184,649,738-184,694,952 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 5.3), endometrium (RPKM 5.2) and 25 other tissues.

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 as DNA Polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

PRIMPOL Products (14)

mRNA	Protein	Name
NM_001300767.2	NP_001287696.1	DNA-directed primase/polymerase protein isoform 2
NM_001300768.2	NP_001287697.1	DNA-directed primase/polymerase protein isoform 3
NM_001345891.2	NP_001332820.1	DNA-directed primase/polymerase protein isoform 4
NM_001345892.2	NP_001332821.1	DNA-directed primase/polymerase protein isoform 5
NM_001345893.2	NP_001332822.1	DNA-directed primase/polymerase protein isoform 5
NM_001345894.2	NP_001332823.1	DNA-directed primase/polymerase protein isoform 6
NM_001345895.2	NP_001332824.1	DNA-directed primase/polymerase protein isoform 1
NM_001345896.2	NP_001332825.1	DNA-directed primase/polymerase protein isoform 3
NM_001345897.2	NP_001332826.1	DNA-directed primase/polymerase protein isoform 7
NM_001345898.2	NP_001332827.1	DNA-directed primase/polymerase protein isoform 8
NM_001345899.2	NP_001332828.1	DNA-directed primase/polymerase protein isoform 9
NM_001345900.2	NP_001332829.1	DNA-directed primase/polymerase protein isoform 10
NM_001345901.2	NP_001332830.1	DNA-directed primase/polymerase protein isoform 7
NM_152683.4	NP_689896.1	DNA-directed primase/polymerase protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA primase activity	IDA IDA: Inferred from direct assay	24126761	GOA
enables DNA-directed DNA polymerase activity	IDA IDA: Inferred from direct assay	24126761	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	24240614	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	25746449	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24126761	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	24682820	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in R-loop processing	IDA IDA: Inferred from direct assay	30478192	GOA
involved in error-prone translesion synthesis	IDA IDA: Inferred from direct assay	24682820	GOA
involved in mitochondrial DNA replication	IMP IMP: Inferred from mutant phenotype	24207056	GOA
involved in replication fork processing	IDA IDA: Inferred from direct assay	28534480	GOA
involved in replication fork processing	IMP IMP: Inferred from mutant phenotype	24126761	GOA
involved in response to UV	IDA IDA: Inferred from direct assay	24240614	GOA
involved in translesion synthesis	IMP IMP: Inferred from mutant phenotype	24240614	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	24207056	GOA
located in nucleus	IDA IDA: Inferred from direct assay	24207056	GOA
located in replication fork	IDA IDA: Inferred from direct assay	28534480	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRIMPOL Protein Structure

DNA_primase_S

Herpes_UL52

0
100
200
300
400
500
560 a.a.

Protein Preferred Names	Protein Names
DNA-directed primase/polymerase protein	coiled-coil domain-containing protein 111

PRIMPOL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PRIMPOL	Q96LW4	RPA1	Homo sapiens	P27694	TAP	24126761
Intra	PRIMPOL	Q96LW4	RPA1	Homo sapiens	P27694	Anti Bait CoIP	24126761

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopia 22, Autosomal Dominant	MYP22 Myopia, Autosomal Dominant, Type 22
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Refractive Error	Refractive Errors
Mitochondrial Dna Depletion Syndrome 8a	Mitochondrial Dna Depletion Syndrome 8b MTDPS8A Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related Rrm2b-Related Mitochondrial Dna Depletion Syndrome Encephalomyopathic Type With Renal Tubulopathy Rrm2b-Mds Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive MTDPS8B Mitochondrial Dna Depletion Syndrome 8b Mngie Type Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related Mngie Rrm2b-Related Visceral Myopathy Familial External Ophthalmoplegia Mitochondrial Dna Depletion Syndrome, Type 8a
Mitochondrial Dna Depletion Syndrome 14	MTDPS14 Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type Mitochondrial Dna Depletion Syndrome, Type 14
Mitochondrial Dna Depletion Syndrome 11	MTDPS11 Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency Peo-Myopathy-Emaciation Syndrome Mtdna Maintenance Syndrome Due To Mgme1 Deficiency Mitochondrial Dna Depletion Syndrome, Type 11
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Mitochondrial Dna Depletion Syndrome 1	MTDPS1 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related Myoneurogastrointestinal Encephalopathy Syndrome Polip Syndrome Mitochondrial Dna Depletion Syndrome, Type 1 Mngie, Tymp-Related Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction Mitochondrial Dna Depletion Syndrome 1, Mngie Type Mitochondrial Neurogastrointestinal Encephalomyopathy Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related Myoneurogastrointestinal Encephalomyopathy Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Immunodeficiency 54	Natural Killer Cell Deficiency, Familial Isolated Primary Immunodeficiency With Natural-Killer Cell Deficiency And Adrenal Insufficiency IMD54 Nkcd Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect Nkgcd Familial Isolated Natural Killer Cell Deficiency Primary Immunodeficiency Due To Mcm4 Deficiency
Anisometropia
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11099	PRIMPOL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PRIMPOL	VGNC	VGNC:44968
Rattus norvegicus	PRIMPOL	RGD	RGD:1562119
Bos taurus	PRIMPOL	VGNC	VGNC:33318
Felis catus	PRIMPOL	VGNC	VGNC:64355
Macaca mulatta	PRIMPOL	VGNC	VGNC:76323
Mus musculus	PRIMPOL	MGD	MGI:3603756
Others	PRIMPOL	NCBI