1. Gene
  2. ATR - ATR serine/threonine kinase Gene

ATR - ATR serine/threonine kinase Gene

中文名称:ATR 丝氨酸/苏氨酸激酶

种属: Homo sapiens

同用名: FRP1; MEC1; SCKL; FCTCS; SCKL1

基因 ID: 545 | 基因类型: protein coding

关于 ATR

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:142,449,235-142,578,733 (from NCBI)

This gene has 22 transcripts (splice variants), 209 orthologues, 5 paralogues and is associated with 131 phenotypes. Ubiquitous expression in testis (RPKM 5.4), adrenal (RPKM 5.3) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种丝氨酸/苏氨酸激酶和 DNA 损伤传感器,可在 DNA 应激时激活细胞周期检查点信号。所编码的蛋白质可以磷酸化和激活几种参与抑制 DNA 复制和有丝分裂的蛋白质,并可以促进 DNA 修复、重组和凋亡。这种蛋白质对于脆弱位点稳定性和中心体复制也很重要。该基因的缺陷是 Seckel 综合征 1 的原因。[RefSeq 提供,2017 年 8 月]

The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and Apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]

ATR 基因产物(9)

mRNA Protein Name
NM_001354579.2 NP_001341508.1 serine/threonine-protein kinase ATR isoform 2
XM_047448364.1 XP_047304320.1 serine/threonine-protein kinase ATR isoform X7
XM_011512925.2 XP_011511227.1 serine/threonine-protein kinase ATR isoform X4
NM_001184.4 NP_001175.2 serine/threonine-protein kinase ATR isoform 1
XM_047448360.1 XP_047304316.1 serine/threonine-protein kinase ATR isoform X2
XM_047448363.1 XP_047304319.1 serine/threonine-protein kinase ATR isoform X6
XM_047448362.1 XP_047304318.1 serine/threonine-protein kinase ATR isoform X5
XM_011512924.2 XP_011511226.1 serine/threonine-protein kinase ATR isoform X1
XM_047448361.1 XP_047304317.1 serine/threonine-protein kinase ATR isoform X3
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 MutLalpha complex binding IDA
IDA: 通过直接分析推断
16713580 GOA
enables MutSalpha complex binding IDA
IDA: 通过直接分析推断
16713580 GOA
enables histone H2AXS139 kinase activity IDA
IDA: 通过直接分析推断
11673449 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9733515 GOA
enables protein kinase activity IDA
IDA: 通过直接分析推断
14657349 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
9733515 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage checkpoint signaling IDA
IDA: 通过直接分析推断
14657349 GOA
involved in DNA damage response IDA
IDA: 通过直接分析推断
11673449 GOA
involved in cellular response to UV IMP
IMP: 通过突变表型推断
9925639 GOA
involved in cellular response to gamma radiation IDA
IDA: 通过直接分析推断
9925639 GOA
involved in double-strand break repair IDA
IDA: 通过直接分析推断
11390642 GOA
involved in establishment of RNA localization to telomere IMP
IMP: 通过突变表型推断
26586433 GOA
involved in mitotic G2/M transition checkpoint IDA
IDA: 通过直接分析推断
30139873 GOA
involved in negative regulation of DNA replication IMP
IMP: 通过突变表型推断
14657349 GOA
acts upstream of nuclear membrane disassembly IDA
IDA: 通过直接分析推断
37788673 GOA
involved in peptidyl-serine phosphorylation IDA
IDA: 通过直接分析推断
9733515 GOA
involved in positive regulation of DNA damage response, signal transduction by p53 class mediator IMP
IMP: 通过突变表型推断
9925639 GOA
involved in positive regulation of telomerase catalytic core complex assembly IMP
IMP: 通过突变表型推断
26586433 GOA
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
9733515 GOA
involved in protein localization to chromosome, telomeric region IMP
IMP: 通过突变表型推断
21829167 GOA
involved in replicative senescence IMP
IMP: 通过突变表型推断
15149599 GOA
involved in response to mechanical stimulus IDA
IDA: 通过直接分析推断
25083873 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ATR-ATRIP complex IPI
IPI: 通过物理相互作用推断
11721054 GOA
located in PML body IDA
IDA: 通过直接分析推断
12814551 GOA
is active in nuclear envelope IDA
IDA: 通过直接分析推断
25083873 GOA
is active in site of DNA damage IDA
IDA: 通过直接分析推断
21777809 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

ATR 蛋白结构

UME

UME: UME (NUC010) domain (1119 - 1224)

FAT

FAT: FAT domain (1773 - 2092)

PI3_PI4_kinase

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (2323 - 2567)

FATC

FATC: FATC domain (2613 - 2644)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2644 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase ATR

FRAP-related protein-1

MEC1, mitosis entry checkpoint 1, homolog

ataxia telangiectasia and Rad3-related protein

ATR 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
ATR Q13535 TTI1 Homo sapiens O43156 20810650
种属内
ATR Q13535 CDK9 Homo sapiens P50750 20930849
种属内
ATR Q13535 CDC5L Homo sapiens Q99459 19633697
种属内
ATR Q13535 CDC5L Homo sapiens Q99459 19633697
种属内
ATR Q13535 CINP Homo sapiens Q9BW66 19889979
种属内
ATR Q13535 ATRIP Homo sapiens Q8WXE1
GMS
17686975
种属内
ATR Q13535 ATRIP Homo sapiens Q8WXE1 23144622
种属内
ATR Q13535 ATRIP Homo sapiens Q8WXE1 19889979
种属内
ATR Q13535 ATRIP Homo sapiens Q8WXE1 20616048
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
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Cancer Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

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 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

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Blepharophimosis
Autosomal Recessive Cerebellar Ataxia

Arca

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Seckel Syndrome 1

SCKL1

Nanocephalic Dwarfism

Microcephalic Primordial Dwarfism I

Seckel-Type Dwarfism

Bird-Headed Dwarfism

Sckl

Seckel Syndrome, Type 1

Seckel Syndrome

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

De Sanctis-Cacchione Syndrome

Xp

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Cutaneous Telangiectasia And Cancer Syndrome, Familial

FCTCS

Telangiectasia, Cutaneous, And Cancer Syndrome, Familial

Familial Cutaneous Telangiectasia And Oropharyngeal Predisposition Cancer Syndrome

Familial Cutaneous Telangiectasia And Oropharyngeal Cancer Predisposition Syndrome

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

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
Canis familiaris ATR VGNC VGNC:38293
Macaca mulatta ATR VGNC VGNC:70193
Felis catus ATR VGNC VGNC:68780
Bos taurus ATR VGNC VGNC:26334
Rattus norvegicus ATR RGD RGD:1305796
Mus musculus ATR MGD MGI:108028
Macaca fascicularis ATR NCBI NCBI:101926636
Others ATR NCBI