1. Gene
  2. RAD50 - RAD50 double strand break repair protein Gene

RAD50 - RAD50 double strand break repair protein Gene

中文名称:RAD50 双链断裂修复蛋白

种属: Homo sapiens

同用名: NBSLD; RAD502; hRad50

基因 ID: 10111 | 基因类型: protein coding

关于 RAD50

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,556,977-132,646,349 (from NCBI)

This gene has 16 transcripts (splice variants), 226 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 10.5), thyroid (RPKM 10.5) and 25 other tissues.

功能概要

该基因编码的蛋白质与酿酒酵母 Rad50 高度相似,后者是一种参与 DNA 双链断裂修复的蛋白质。该蛋白质与 MRE11 和 NBS1 形成复合物。蛋白质复合物与 DNA 结合并显示出许多酶活性,这些酶活性是 DNA 末端非同源连接所必需的。这种蛋白质与其伙伴合作,对于 DNA 双链断裂修复、细胞周期检查点激活、端粒维持和减数分裂重组很重要。小鼠同系物的基因敲除研究表明该基因对细胞生长和活力至关重要。该基因的突变是 Nijmegen 断裂综合征样疾病的原因。[RefSeq 提供,2010 年 4 月]

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]

RAD50 基因产物(1)

mRNA Protein Name
NM_005732.4 NP_005723.2 DNA repair protein RAD50
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
contributes to 3'-5' exonuclease activity IDA
IDA: 通过直接分析推断
9705271 GOA
enables ATP hydrolysis activity IDA
IDA: 通过直接分析推断
9651580 GOA
enables DNA binding IDA
IDA: 通过直接分析推断
15790808 GOA
contributes to DNA helicase activity IMP
IMP: 通过突变表型推断
15790808 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
28134932 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11096100 GOA
enables protein serine/threonine kinase activator activity IDA
IDA: 通过直接分析推断
16622404 GOA
enables protein-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
12152085 GOA
contributes to single-stranded DNA endodeoxyribonuclease activity IDA
IDA: 通过直接分析推断
9705271 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within DNA damage response IDA
IDA: 通过直接分析推断
17500065 GOA
involved in DNA double-strand break processing IDA
IDA: 通过直接分析推断
16622404 GOA
involved in DNA duplex unwinding IMP
IMP: 通过突变表型推断
15790808 GOA
involved in DNA recombination IDA
IDA: 通过直接分析推断
9705271 GOA
involved in DNA repair IDA
IDA: 通过直接分析推断
9705271 GOA
involved in DNA strand resection involved in replication fork processing IDA
IDA: 通过直接分析推断
27889449 GOA
involved in R-loop processing IDA
IDA: 通过直接分析推断
31537797 GOA
involved in double-strand break repair IMP
IMP: 通过突变表型推断
9590181 GOA
involved in double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
27889449 GOA
involved in negative regulation of telomere capping IDA
IDA: 通过直接分析推断
17694070 GOA
involved in positive regulation of kinase activity IDA
IDA: 通过直接分析推断
15790808 GOA
involved in positive regulation of protein autophosphorylation IDA
IDA: 通过直接分析推断
15790808 GOA
involved in positive regulation of telomere maintenance IMP
IMP: 通过突变表型推断
16374507 GOA
involved in regulation of mitotic recombination IDA
IDA: 通过直接分析推断
8756642 GOA
involved in telomere maintenance via telomerase IDA
IDA: 通过直接分析推断
9705271 GOA
involved in telomeric 3' overhang formation IMP
IMP: 通过突变表型推断
16374507 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BRCA1-C complex IPI
IPI: 通过物理相互作用推断
16391231 GOA
NOT part of Mre11 complex IDA
IDA: 通过直接分析推断
27889449 GOA
part of Mre11 complex IDA
IDA: 通过直接分析推断
9590181 GOA
part of Mre11 complex IPI
IPI: 通过物理相互作用推断
31147924 GOA
colocalizes with chromosome, telomeric region IDA
IDA: 通过直接分析推断
24270157 GOA
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
10888888 GOA
is active in site of double-strand break IDA
IDA: 通过直接分析推断
16622404 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
15916964 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

RAD50 蛋白结构

Rad50_zn_hook

Rad50_zn_hook: Rad50 zinc hook motif (519 - 574)

SbcCD_C

SbcCD_C: Putative exonuclease SbcCD, C subunit (1036 - 1110)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1173 a.a.
蛋白主名 其他名称

DNA repair protein RAD50

RAD50 homolog, double strand break repair protein

RAD50 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
RAD50 Q92878 ATRX Homo sapiens P46100
Anti Bait CoIP
24651726
种属内
RAD50 Q92878 RAD50 Homo sapiens Q92878
Crosslink
28134932
种属内
RAD50 Q92878 NBN Homo sapiens O60934
Anti Bait CoIP
17500065
种属内
RAD50 Q92878 RAD50 Homo sapiens Q92878
SAXS
28134932
种属内
RAD50 Q92878 MRE11 Homo sapiens P49959
Anti Bait CoIP
17500065
种属内
RAD50 Q92878 NBN Homo sapiens O60934
Anti Bait CoIP
24651726
种属内
RAD50 Q92878 MRE11 Homo sapiens P49959
Anti Bait CoIP
24651726
种属内
RAD50 Q92878 RAD50 Homo sapiens Q92878
X-Ray Diffraction
28134932
种属内
RAD50 Q92878 RAD50 Homo sapiens Q92878
FRET
28134932
种属内
RAD50 Q92878 RAD17 Homo sapiens O75943
Anti Bait CoIP
24534091
种属间: 跨种属相互作用 种属内: 同种属相互作用

RAD50 抗体

目录号 产品名 应用 反应物种
HY-P81936 Rad50 Antibody (YA1681) WB Human

关联疾病

疾病名称 别名
Nijmegen Breakage Syndrome-Like Disorder

NBSLD

Nbs-Like Disorder

Rad50 Deficiency

Microcephaly And Spontaneous Chromosome Instability Without Immunodeficiency

Microcephaly And Chromosomal Instability Without Immunodeficiency

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

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

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

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

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

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

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

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

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

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 RAD50 VGNC VGNC:51759
Felis catus RAD50 VGNC VGNC:102302
Bos taurus RAD50 VGNC VGNC:52870
Rattus norvegicus RAD50 RGD RGD:621542
Mus musculus RAD50 MGD MGI:109292