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  2. POLE - DNA polymerase epsilon, catalytic subunit Gene

POLE - DNA polymerase epsilon, catalytic subunit Gene

中文名称:DNA 聚合酶 epsilon,催化亚基

种属: Homo sapiens

同用名: FILS; POLE1; CRCS12; IMAGEI

基因 ID: 5426 | 基因类型: protein coding

关于 POLE

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:132,623,762-132,687,342 (from NCBI)

This gene has 24 transcripts (splice variants), 222 orthologues and is associated with 143 phenotypes. Broad expression in bone marrow (RPKM 12.9), testis (RPKM 10.8) and 24 other tissues.

功能概要

该基因编码 DNA 聚合酶 epsilon 的催化亚基。该酶参与 DNA 修复和染色体 DNA 复制。该基因的突变与结直肠癌 12 和面部畸形、免疫缺陷、青斑和身材矮小有关。[RefSeq 提供,2013 年 9 月]

This gene encodes the catalytic subunit of DNA Polymerase epsilon. The Enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal Cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

POLE 基因产物(1)

mRNA Protein Name
NM_006231.4 NP_006222.2 DNA polymerase epsilon catalytic subunit A
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 binding IDA
IDA: 通过直接分析推断
16762037 GOA
enables DNA-directed DNA polymerase activity IMP
IMP: 通过突变表型推断
16762037 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
16762037 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10801849 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA replication IMP
IMP: 通过突变表型推断
16762037 GOA
involved in DNA synthesis involved in DNA repair IMP
IMP: 通过突变表型推断
1730053 GOA
involved in DNA-templated DNA replication IDA
IDA: 通过直接分析推断
33051204 GOA
involved in G1/S transition of mitotic cell cycle IMP
IMP: 通过突变表型推断
16762037 GOA
involved in base-excision repair, gap-filling IDA
IDA: 通过直接分析推断
10559260 GOA
involved in nucleotide-excision repair, DNA gap filling IMP
IMP: 通过突变表型推断
20227374 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of epsilon DNA polymerase complex IDA
IDA: 通过直接分析推断
10801849 GOA
part of epsilon DNA polymerase complex IPI
IPI: 通过物理相互作用推断
10801849 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16762037 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

POLE 蛋白结构

DNA_pol_B_exo1

DNA_pol_B_exo1: DNA polymerase family B, exonuclease domain (86 - 426)

DNA_pol_B

DNA_pol_B: DNA polymerase family B (624 - 1145)

DUF1744

DUF1744: Domain of unknown function (DUF1744) (1529 - 1925)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2286 a.a.
蛋白主名 其他名称

DNA polymerase epsilon catalytic subunit A

3'-5' exodeoxyribonuclease

POLE 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
Intra POLE Q07864 POLE2 Homo sapiens P56282
Anti Tag CoIP
33961781
Intra POLE Q07864 POLE2 Homo sapiens P56282
Anti Tag CoIP
28514442
Intra POLE Q07864 POLE2 Homo sapiens P56282
Y2H Prey Pooling
32296183
Intra POLE Q07864 POLE2 Homo sapiens P56282
Y2H Array
32296183
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
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature

Fils Syndrome

Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome

FILS

Livedo Reticularis

Cutis Marmorata

Colorectal Cancer 12

Colorectal Cancer, Susceptibility To, 12

CRCS12

Colorectal Cancer On Chromosome 12q24

Colorectal Cancer, Susceptibility To, On Chromosome 12q24

Susceptibility To Colorectal Cancer On Chromosome 12q24

Cancer, Colorectal, Susceptibility To, Type 12

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency

IMAGEI

Image-I Syndrome

Imagei Syndrome

Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation

Lubani Al Saleh Teebi Syndrome

Lubani-Al Saleh-Teebi Syndrome

Lubani Al Saleh Teebi Syndrome

Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome

Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation

Cystic Fibrosis Gastritis Megaloblastic Anemia

Cystic Fibrosis, Helicobacter Pylori Gastritis, Megaloblastic Anemia, Subnormal Mentality And Minor Anomalies

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia

Polymerase Proofreading-Related Adenomatous Polyposis

Ppap

Familial Ovarian Cancer

Familial Ovarian Carcinoma

Familial Ovarian Malignant Tumor

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Uterine Carcinosarcoma

Carcinosarcoma Of The Corpus Uteri

Mixed Mullerian Sarcoma Of Uterus

Malignant Mixed Müllerian Tumor Of The Corpus Uteri

Malignant Mixed Müllerian Tumor Of Corpus Uteri

Mixed Müllerian Cancer Of Corpus Uteri

Malignant Mixed Mullerian Tumor Of The Corpus Uteri

Mixed Mullerian Cancer Of Corpus Uteri

Uterine Corpus Carcinosarcoma

Pancreatic Adenocarcinoma

Adenocarcinoma Of The Pancreas

Adenocarcinoma Of Pancreas

Pancreas Adenocarcinoma

Malignant Exocrine Neoplasm

Primary Pancreatic Adenocarcinoma

Adenocarcinoma Of Islet Cell Of Pancreas

Islet Cell Adenocarcinoma Of Unspecified Site

Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

Giant Cell Glioblastoma

Monstrocellular Sarcoma

Female Reproductive Endometrioid Cancer

Endometrioid Tumor

Endometrioid Neoplasm

Female Reproductive Endometrioid Neoplasm

Gastric Adenocarcinoma

Adenocarcinoma Of Stomach

Stomach Adenocarcinoma

Adenocarcinoma Gastric

Intestinal Type Adenocarcinoma Of Unspecified Site

Diffuse Type Adenocarcinoma Of Unspecified Site

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Mismatch Repair Cancer Syndrome

Turcot Syndrome

Brain Tumor-Polyposis Syndrome 1

Btp1 Syndrome

Btps1

Childhood Cancer Syndrome

Cmmr-D Syndrome

Cmmrds

Constitutional Mismatch Repair Deficiency Syndrome

Mmr Deficiency

Cancer Syndrome, Mismatch Repair

Malignant Childhood Neoplasm

Metaphyseal Dysplasia

Bakwin-Krida Syndrome

Pyle'S Disease

Pyle-Cohn Syndrome

Mixed Cell Type Cancer

Malignant Mixed Neoplasm

Malignant Mixed Tumor

Mixed Neoplasm

Mixed Tumor, Malignant

Malignant Mixed Cancer

Mixed Tumor

Malignant Mixed Tumor, Not Otherwise Specified

Mixed Salivary Gland Tumor

Mixed Tumor, Not Otherwise Specified

Uterine Corpus Cancer

Corpus Uteri Cancer

Malignant Uterine Corpus Neoplasm

Familial Adenomatous Polyposis 2

Mutyh-Related Attenuated Familial Adenomatous Polyposis

FAP2

Colorectal Adenomatous Polyposis, Autosomal Recessive

Adenomas, Multiple Colorectal

Mutyh-Associated Polyposis

Mutyh-Related Attenuated Familial Polyposis Coli

Mutyh-Related Attenuated Fap

Adenomas, Multiple Colorectal, Autosomal Recessive

Mutyh-Related Afap

Adenomas Multiple Colorectal Autosomal Recessive

Colorectal Adenomatous Polyposis Autosomal Recessive

Adenomatous Polyposis, Familial, Type 2

Rectosigmoid Cancer

Rectosigmoid Junction Cancer

Malignant Neoplasm Of Rectosigmoid Junction

Malignant Neoplasm Of Rectosigmoid

Malignant Rectosigmoid Tumor

Malignant Tumor Of Rectosigmoid Junction

Nemaline Myopathy 3

Nemaline Myopathy 3, Autosomal Dominant Or Recessive

Congenital Myopathy With Excess Of Thin Filaments

NEM3

Myopathy, Actin, Congenital, With Cores

Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Actin-Accumulation Myopathy

Actin Myopathy

Actin Accumulation Myopathy

Actin Filament Aggregate Myopathy

Nemaline Myopathy, Type 3

MPCETM

Acta1-Related Nemaline Myopathy

Actin Myopathy Congenital With Cores

Nemaline Myopathy 3 With Intranuclear Rods

Myopathy, Nemaline, Type 3

Uterine Body Mixed Cancer

Malignant Mixed Tumor Of Corpus Uteri

Malignant Mixed Tumor, Not Otherwise Specified

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Hereditary Mixed Polyposis Syndrome

Hmps

Endometrioid Ovary Carcinoma

Endometrioid Carcinoma Of Ovary

Endometrioid Carcinoma Ovary

Ovarian Endometrioid Carcinoma

Malignant Ovarian Endometrioid Tumor

Ovarian Endometrioid Tumor

Endometrial Clear Cell Adenocarcinoma

Clear Cell Carcinoma Of Endometrium

Endometrial Serous Adenocarcinoma

Uterine Serous Carcinoma

Uterine Corpus Serous Adenocarcinoma

Uterine Papillary Serous Carcinoma

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3

EEC3

Eec Syndrome 3

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Type 3

Serous Cystadenocarcinoma

Serous Adenocarcinoma

Cystadenocarcinoma, Serous

Serous Carcinoma

Cystadenocarcinoma Serous

Cervix Endometriosis

Endometriosis Of Cervix

Cervical Endometriosis

Juvenile Polyposis Syndrome

JPS

Juvenile Intestinal Polyposis

Jip

Pji

Juvenile Gastrointestinal Polyposis

Juvenile Polyposis

Polyposis, Juvenile Intestinal

Polyposis, Familial, Of Entire Gastrointestinal Tract

Polyposis Familial Of Entire Gastrointestinal Tract

Polyposis Juvenile Intestinal

Polyposis Syndrome, Juvenile

Endometrial Adenocarcinoma

Endometrial Endometrioid Adenocarcinoma

Endometrial Adenoacanthoma

Endometrial Endometrioid Adenocarcinoma, Variant With Squamous Differentiation

Adenocarcinoma Of Endometrium

Adenocarcinoma Of The Endometrium

Adenocarcinoma Of Uterus

Endometrial Endometrioid Adenocarcinoma With Squamous Differentiation

Endometrioid Adenoma Or Carcinoma

Endometrioid Adenomas And Carcinomas

Endometrioid Carcinoma Of Endometrium

Endometrium Adenocarcinoma

Papillary Adenofibroma
Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Colorectal Adenoma

Colorectal Adenomas

Adenoma Of Large Intestine

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Muir-Torre Syndrome

MRTES

Keratoacanthoma

Muir-Torré Syndrome

Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas

Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas

Multiple Keratoacanthoma, Muir-Torre Type

Mts

Torre-Muir Syndrome

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta POLE VGNC VGNC:100091
Mus musculus POLE MGD MGI:1196391
Canis familiaris POLE VGNC VGNC:44779
Felis catus POLE VGNC VGNC:68938
Bos taurus POLE VGNC VGNC:33118
Rattus norvegicus POLE RGD RGD:1594540
Others POLE NCBI