PRIMPOL - primase and DNA directed polymerase Gene

中文名称：引物酶和 DNA 定向聚合酶

种属: Homo sapiens

同用名: MYP22; CCDC111; Primpol1

基因 ID: 201973 | 基因类型: protein coding

关于 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.

功能概要

该基因编码属于古真核生物引物超家族的 DNA 引物聚合酶。该家族的成员具有引物酶活性，催化作为 DNA 合成起点的短 RNA 引物的合成，以及 DNA 聚合酶活性。编码的蛋白质通过介导紫外线照射后不间断的叉进展和重新启动 DNA 合成来促进 DNA 损伤耐受。该基因的等位基因变异与近视相关 22。可变剪接导致多个转录本变异。[RefSeq 提供，2016 年 9 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA primase activity	IDA IDA: 通过直接分析推断	24126761	GOA
enables DNA-directed DNA polymerase activity	IDA IDA: 通过直接分析推断	24126761	GOA
enables chromatin binding	IDA IDA: 通过直接分析推断	24240614	GOA
enables manganese ion binding	IDA IDA: 通过直接分析推断	25746449	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	24126761	GOA
enables zinc ion binding	IDA IDA: 通过直接分析推断	24682820	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in R-loop processing	IDA IDA: 通过直接分析推断	30478192	GOA
involved in error-prone translesion synthesis	IDA IDA: 通过直接分析推断	24682820	GOA
involved in mitochondrial DNA replication	IMP IMP: 通过突变表型推断	24207056	GOA
involved in replication fork processing	IDA IDA: 通过直接分析推断	28534480	GOA
involved in replication fork processing	IMP IMP: 通过突变表型推断	24126761	GOA
involved in response to UV	IDA IDA: 通过直接分析推断	24240614	GOA
involved in translesion synthesis	IMP IMP: 通过突变表型推断	24240614	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial matrix	IDA IDA: 通过直接分析推断	24207056	GOA
located in nucleus	IDA IDA: 通过直接分析推断	24207056	GOA
located in replication fork	IDA IDA: 通过直接分析推断	28534480	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PRIMPOL 蛋白结构

DNA_primase_S

Herpes_UL52

0
100
200
300
400
500
560 a.a.

蛋白主名

其他名称

DNA-directed primase/polymerase protein

coiled-coil domain-containing protein 111

PRIMPOL 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	PRIMPOL	Q96LW4	RPA1	Homo sapiens	P27694	TAP	24126761
种属内	PRIMPOL	Q96LW4	RPA1	Homo sapiens	P27694	Anti Bait CoIP	24126761

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11099	PRIMPOL Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PRIMPOL - primase and DNA directed polymerase Gene

关于 PRIMPOL

功能概要

PRIMPOL 基因产物(14)

PRIMPOL 蛋白结构

PRIMPOL 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

PRIMPOL - primase and DNA directed polymerase Gene

关于 PRIMPOL

功能概要

PRIMPOL 基因产物(14)

PRIMPOL 蛋白结构

PRIMPOL 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z