RAD50 - RAD50 double strand break repair protein Gene

Also Known as NBSLD; RAD502; hRad50

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10111

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_005732.4	NP_005723.2	DNA repair protein RAD50

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
contributes to 3'-5' exonuclease activity	IDA IDA: Inferred from direct assay	9705271	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	9651580	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	15790808	GOA
contributes to DNA helicase activity	IMP IMP: Inferred from mutant phenotype	15790808	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	28134932	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11096100	GOA
enables protein serine/threonine kinase activator activity	IDA IDA: Inferred from direct assay	16622404	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	12152085	GOA
contributes to single-stranded DNA endodeoxyribonuclease activity	IDA IDA: Inferred from direct assay	9705271	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within DNA damage response	IDA IDA: Inferred from direct assay	17500065	GOA
involved in DNA double-strand break processing	IDA IDA: Inferred from direct assay	16622404	GOA
involved in DNA duplex unwinding	IMP IMP: Inferred from mutant phenotype	15790808	GOA
involved in DNA recombination	IDA IDA: Inferred from direct assay	9705271	GOA
involved in DNA repair	IDA IDA: Inferred from direct assay	9705271	GOA
involved in DNA strand resection involved in replication fork processing	IDA IDA: Inferred from direct assay	27889449	GOA
involved in R-loop processing	IDA IDA: Inferred from direct assay	31537797	GOA
involved in double-strand break repair	IMP IMP: Inferred from mutant phenotype	9590181	GOA
involved in double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27889449	GOA
involved in negative regulation of telomere capping	IDA IDA: Inferred from direct assay	17694070	GOA
involved in positive regulation of kinase activity	IDA IDA: Inferred from direct assay	15790808	GOA
involved in positive regulation of protein autophosphorylation	IDA IDA: Inferred from direct assay	15790808	GOA
involved in positive regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	16374507	GOA
involved in regulation of mitotic recombination	IDA IDA: Inferred from direct assay	8756642	GOA
involved in telomere maintenance via telomerase	IDA IDA: Inferred from direct assay	9705271	GOA
involved in telomeric 3' overhang formation	IMP IMP: Inferred from mutant phenotype	16374507	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of BRCA1-C complex	IPI IPI: Inferred from physical interaction	16391231	GOA
NOT part of Mre11 complex	IDA IDA: Inferred from direct assay	27889449	GOA
part of Mre11 complex	IDA IDA: Inferred from direct assay	9590181	GOA
part of Mre11 complex	IPI IPI: Inferred from physical interaction	31147924	GOA
colocalizes with chromosome, telomeric region	IDA IDA: Inferred from direct assay	24270157	GOA
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	10888888	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	16622404	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	15916964	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

RAD50 Protein Structure

Rad50_zn_hook

SbcCD_C

0
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800
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1173 a.a.

Protein Preferred Names	Protein Names
DNA repair protein RAD50	RAD50 homolog, double strand break repair protein

RAD50 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	RAD50	Q92878	ATRX	Homo sapiens	P46100	Anti Bait CoIP	24651726
Intra	RAD50	Q92878	RAD50	Homo sapiens	Q92878	Crosslink	28134932
Intra	RAD50	Q92878	NBN	Homo sapiens	O60934	Anti Bait CoIP	17500065
Intra	RAD50	Q92878	RAD50	Homo sapiens	Q92878	SAXS	28134932
Intra	RAD50	Q92878	MRE11	Homo sapiens	P49959	Anti Bait CoIP	17500065
Intra	RAD50	Q92878	NBN	Homo sapiens	O60934	Anti Bait CoIP	24651726
Intra	RAD50	Q92878	MRE11	Homo sapiens	P49959	Anti Bait CoIP	24651726
Intra	RAD50	Q92878	RAD50	Homo sapiens	Q92878	X-Ray Diffraction	28134932
Intra	RAD50	Q92878	RAD50	Homo sapiens	Q92878	FRET	28134932
Intra	RAD50	Q92878	RAD17	Homo sapiens	O75943	Anti Bait CoIP	24534091

Cross: Cross-species interaction Intra: Intraspecies interaction

RAD50 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P81936	Rad50 Antibody (YA1681)	WB	Human
HY-P84711	Rad50 Antibody (YA4408)	WB, IHC-P, FC, ELISA	Human, Rat
HY-P84711A	Rad50 Antibody (YA4408)(PBS only)	WB, IHC-P, FC, ELISA	Human, Rat

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-19959	Mirin		99.63%	Unkown
HY-117693	(E/Z)-Mirin	Inhibitor	99.22%	Unkown
HY-149972	Antitumor agent-96	Inducer	/	Unkown
HY-RS11602	RAD50 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18404	Rad50 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24885	Rad50 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	RAD50	NCBI