PRIMPOL - primase and DNA directed polymerase Gene

Homo sapiens

Also known as MYP22; CCDC111; Primpol1

Gene ID: 201973 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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