RAD50 - RAD50 double strand break repair protein Gene

Homo sapiens

Also known as NBSLD; RAD502; hRad50

Gene ID: 10111 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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
200
400
600
800
1000
1173 a.a.

Protein Preferred Names

Protein Names

DNA repair protein RAD50

RAD50 homolog, double strand break repair protein

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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-117693	Mirin	Inhibitor	98.12%	Unkown
HY-19959	(Z)-Mirin		99.30%	Unkown
HY-149972	Antitumor agent-96	Inducer	/	Unkown
HY-RS11602	RAD50 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.