RAD50: Polycystic Ovarian Syndrome Database

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RAD50

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

RAD50

Aliases

NBSLD, RAD502, hRad50

Entrez Gene ID

10111

Gene Name

RAD50 double strand break repair protein

Chromosomal Location

5q31.1

HGNC ID

HGNC:9816

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]

RefSeq DNA

NG_021151.2

RefSeq mRNA

NM_005732.4

e!Ensembl

Gene	ENSG00000113522
Transcript	ENST00000416135, ENST00000651541, ENST00000533482, ENST00000378823, ENST00000652016, ENST00000652485, ENST00000651160, ENST00000651723, ENST00000453394, ENST00000423956, ENST00000434288, ENST00000651249, ENST00000455677
Protein	ENSP00000389515, ENSP00000498795, ENSP00000431225, ENSP00000368100, ENSP00000498267, ENSP00000498973, ENSP00000498829, ENSP00000498237, ENSP00000400049, ENSP00000390971, ENSP00000396100, ENSP00000498257, ENSP00000396860

Gene Ontology (GO)

Show/Hide all(44 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000019	Biological process	Regulation of mitotic recombination	IDA	8756642
GO:0000722	Biological process	Telomere maintenance via recombination	IBA	21873635
GO:0000723	Biological process	Telomere maintenance	TAS	10888888
GO:0006281	Biological process	DNA repair	IDA	9705271
GO:0006302	Biological process	Double-strand break repair	IMP	9590181
GO:0006310	Biological process	DNA recombination	IDA	9705271
GO:0006974	Biological process	Cellular response to DNA damage stimulus	IDA	17500065
GO:0007004	Biological process	Telomere maintenance via telomerase	IBA	21873635
GO:0007004	Biological process	Telomere maintenance via telomerase	IDA	9705271
GO:0007131	Biological process	Reciprocal meiotic recombination	TAS	8756642
GO:0016233	Biological process	Telomere capping	IBA	21873635
GO:0031860	Biological process	Telomeric 3' overhang formation	IMP	16374507
GO:0031954	Biological process	Positive regulation of protein autophosphorylation	IDA	15790808
GO:0032206	Biological process	Positive regulation of telomere maintenance	IMP	16374507
GO:0032508	Biological process	DNA duplex unwinding	IBA	21873635
GO:0032508	Biological process	DNA duplex unwinding	IMP	15790808
GO:0033674	Biological process	Positive regulation of kinase activity	IDA	15790808
GO:0070192	Biological process	Chromosome organization involved in meiotic cell cycle	IBA	21873635
GO:1904354	Biological process	Negative regulation of telomere capping	IDA	17694070
GO:0000784	Cellular component	Nuclear chromosome, telomeric region	HDA	19135898
GO:0000784	Cellular component	Nuclear chromosome, telomeric region	IBA	21873635
GO:0000784	Cellular component	Nuclear chromosome, telomeric region	IDA	10888888
GO:0000784	Cellular component	Nuclear chromosome, telomeric region	IDA	24270157
GO:0000790	Cellular component	Nuclear chromatin	IBA	21873635
GO:0000794	Cellular component	Condensed nuclear chromosome	IBA	21873635
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0030870	Cellular component	Mre11 complex	IBA	21873635
GO:0030870	Cellular component	Mre11 complex	IDA	9590181, 19151086
GO:0030870	Cellular component	Mre11 complex	TAS	27918544
GO:0035861	Cellular component	Site of double-strand break	IBA	21873635
GO:0035861	Cellular component	Site of double-strand break	IDA	15916964
GO:0000014	Molecular function	Single-stranded DNA endodeoxyribonuclease activity	IBA	21873635
GO:0000014	Molecular function	Single-stranded DNA endodeoxyribonuclease activity	IDA	9705271
GO:0003677	Molecular function	DNA binding	IDA	15790808
GO:0003678	Molecular function	DNA helicase activity	IBA	21873635
GO:0003678	Molecular function	DNA helicase activity	IMP	15790808
GO:0003691	Molecular function	Double-stranded telomeric DNA binding	IBA	21873635
GO:0004017	Molecular function	Adenylate kinase activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	11096100, 18716619, 24534091, 24651726, 27568553
GO:0008408	Molecular function	3'-5' exonuclease activity	IBA	21873635
GO:0008408	Molecular function	3'-5' exonuclease activity	IDA	9705271
GO:0030674	Molecular function	Protein binding, bridging	IDA	12152085
GO:0043047	Molecular function	Single-stranded telomeric DNA binding	IBA	21873635
GO:0051880	Molecular function	G-quadruplex DNA binding	IBA	21873635

Protein Information

Protein Name

DNA repair protein RAD50, RAD50 homolog, double strand break repair protein

Function

Refseq Proteins

NP_005723.2

UniProt

Q92878

Pfam

Pfam Accession	Pfam ID
PF13476	AAA_23
PF04423	Rad50_zn_hook

Pathways
	KEGG	Reactome
	Homologous recombination Non-homologous end-joining Cellular senescence	DNA Damage/Telomere Stress Induced Senescence HDR through Single Strand Annealing (SSA) HDR through MMEJ (alt-NHEJ) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint

Interactions

STRING	MINT	IntAct
ENSP00000320757

View interactions

Associated Diseases

Show/Hide all(7 )

Disease group	Disease Name	References
Cardiovascular Diseases
Cardiovascular Diseases	Coronary heart disease	21966275
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Nijmegen Breakage Syndrome-Like Disorder	16474176, 26786923, 26824983, 25452441, 21778326, 18281469, 26689913, 19409520, 16385572, 28376765, 25741868, 14684699
Endocrine System Diseases
Endocrine System Diseases	PCOS	26908109
Neoplasms
	Heriditary Neoplastic Syndrome	24240112, 24894818, 24763289, 10892749, 21441914, 26023681, 26824983, 14684699, 19409520, 16474176, 20571869, 18281469, 25828805, 20805886, 26787654, 16385572, 24093751, 25151137, 21035407, 17386254, 19904603, 26094658, 24549055, 28492532, 27913932, 21811815, 19190165, 25452441
	Breast Cancer	16474176, 16385572, 15150571, 14684699
Psychiatric/Brain disorders
	Narcolepsy	19629137
	Intellectual Disability	1887849, 19409520
Respiratory Tract Diseases
Respiratory Tract Diseases	Asthma	27182965, 20159242, 27611488, 24241537, 20860503, 21907864
Skin and Connective Tissue Diseases
	Psoriasis	25574825
	Dermatitis	23886662, 25574825

References

PMID: 26908109

Perspectives in Polycystic Ovary Syndrome: From Hair to Eternity.

Dunaif Andrea

Division of Endocrinology, Metabolism, and Molecular Medicine, Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611.

J Clin Endocrinol Metab. 2016 Mar;101(3):759-68. doi: 10.1210/jc.2015-3780. Epub

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