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UniProtKB - Q92878 (RAD50_HUMAN)

Entry version 193 (10 Feb 2021)
Sequence version 1 (01 Feb 1997)
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Protein

DNA repair protein RAD50

Gene

RAD50

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (PubMed:11741547, PubMed:9590181, PubMed:9705271, PubMed:9651580). The complex may also be required for DNA damage signaling via activation of the ATM kinase (PubMed:15064416). In telomeres the MRN complex may modulate t-loop formation (PubMed:10888888).6 Publications

Miscellaneous

In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells.

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per homodimer.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi681ZincPROSITE-ProRule annotation1
Metal bindingi684ZincPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi36 – 43ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processCell cycle, DNA damage, DNA repair, Host-virus interaction, Meiosis
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q92878

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2559586, DNA Damage/Telomere Stress Induced Senescence
R-HSA-5685938, HDR through Single Strand Annealing (SSA)
R-HSA-5685939, HDR through MMEJ (alt-NHEJ)
R-HSA-5685942, HDR through Homologous Recombination (HRR)
R-HSA-5693548, Sensing of DNA Double Strand Breaks
R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693571, Nonhomologous End-Joining (NHEJ)
R-HSA-5693579, Homologous DNA Pairing and Strand Exchange
R-HSA-5693607, Processing of DNA double-strand break ends
R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation
R-HSA-69473, G2/M DNA damage checkpoint
R-HSA-912446, Meiotic recombination

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q92878

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
DNA repair protein RAD50 (EC:3.6.-.-)
Short name:
hRAD50
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RAD50
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9816, RAD50

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604040, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92878

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000113522.13

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Nijmegen breakage syndrome-like disorder (NBSLD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi42K → N: Abolishes ability to degrade ATP. 1 Publication1
Mutagenesisi1231D → A: Abolishes ability to degrade ATP. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		10111

MalaCards human disease database

More...MalaCardsi		RAD50
MIMi613078, phenotype

Open Targets

More...OpenTargetsi		ENSG00000113522

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		145, Hereditary breast and ovarian cancer syndrome
240760, Nijmegen breakage syndrome-like disorder

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34175

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92878, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RAD50

Domain mapping of disease mutations (DMDM)

More...DMDMi		60392986

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001386411 – 1312DNA repair protein RAD50Add BLAST1312

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei635PhosphoserineCombined sources1
Modified residuei690PhosphothreonineCombined sources1
Modified residuei959N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-3286
CPTAC-954

Encyclopedia of Proteome Dynamics

More...EPDi		Q92878

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92878

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92878

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92878

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q92878

PeptideAtlas

More...PeptideAtlasi		Q92878

PRoteomics IDEntifications database

More...PRIDEi		Q92878

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75562 [Q92878-1]
75563 [Q92878-2]
75564 [Q92878-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92878

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q92878

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000113522, Expressed in corpus callosum and 232 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q92878, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92878, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000113522, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the MRN complex composed of two heterodimers RAD50/MRE11 associated with a single NBN (PubMed:8756642, PubMed:9590181, PubMed:9705271, PubMed:10839544, PubMed:26215093). As part of the MRN complex, interacts with MCM8 and MCM9; the interaction recruits the complex to DNA repair sites (PubMed:26215093).

Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11 and NBN (PubMed:10783165).

Found in a complex with TERF2 (PubMed:10888888).

Interacts with RINT1 (PubMed:11096100).

Interacts with BRCA1 via its N-terminal domain (PubMed:10426999).

Interacts with DCLRE1C/Artemis (PubMed:15456891, PubMed:15723659).

Interacts with MRNIP (PubMed:27568553).

12 Publications

(Microbial infection) Interacts with herpes simplex virus 1 protein UL12 (PubMed:20943970).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115417, 171 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-4442, MRN complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q92878

Database of interacting proteins

More...DIPi		DIP-33606N

Protein interaction database and analysis system

More...IntActi		Q92878, 85 interactors

Molecular INTeraction database

More...MINTi		Q92878

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000368100

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q92878, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11312
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q92878

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini635 – 734Zinc-hookPROSITE-ProRule annotationAdd BLAST100

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili228 – 359Sequence analysisAdd BLAST132
Coiled coili401 – 598Sequence analysisAdd BLAST198
Coiled coili635 – 673Sequence analysisAdd BLAST39
Coiled coili706 – 734Sequence analysisAdd BLAST29
Coiled coili789 – 1079Sequence analysisAdd BLAST291

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1201 – 1238Ala/Asp-rich (DA-box)Add BLAST38

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The zinc-hook, which separates the large intramolecular coiled coil regions, contains 2 Cys residues that coordinate one molecule of zinc with the help of the 2 Cys residues of the zinc-hook of another RAD50 molecule, thereby forming a V-shaped homodimer. The two heads of the homodimer, which constitute the ATP-binding domain, interact with the MRE11 homodimer (By similarity).By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SMC family. RAD50 subfamily.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0962, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018781

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_006184_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92878

Identification of Orthologs from Complete Genome Data

More...OMAi		CFGVNCG

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92878

TreeFam database of animal gene trees

More...TreeFami		TF101217

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027417, P-loop_NTPase
IPR038729, Rad50/SbcC_AAA
IPR004584, Rad50_eukaryotes
IPR013134, Zn_hook_RAD50

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13476, AAA_23, 1 hit
PF04423, Rad50_zn_hook, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540, SSF52540, 2 hits

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00606, rad50, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51131, ZN_HOOK, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92878-1) [UniParc]FASTAAdd to basket
Also known as: RAD50-1, RAD50-2

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSRIEKMSIL GVRSFGIEDK DKQIITFFSP LTILVGPNGA GKTTIIECLK 
        60         70         80         90        100
YICTGDFPPG TKGNTFVHDP KVAQETDVRA QIRLQFRDVN GELIAVQRSM 
       110        120        130        140        150
VCTQKSKKTE FKTLEGVITR TKHGEKVSLS SKCAEIDREM ISSLGVSKAV 
       160        170        180        190        200
LNNVIFCHQE DSNWPLSEGK ALKQKFDEIF SATRYIKALE TLRQVRQTQG 
       210        220        230        240        250
QKVKEYQMEL KYLKQYKEKA CEIRDQITSK EAQLTSSKEI VKSYENELDP 
       260        270        280        290        300
LKNRLKEIEH NLSKIMKLDN EIKALDSRKK QMEKDNSELE EKMEKVFQGT 
       310        320        330        340        350
DEQLNDLYHN HQRTVREKER KLVDCHRELE KLNKESRLLN QEKSELLVEQ 
       360        370        380        390        400
GRLQLQADRH QEHIRARDSL IQSLATQLEL DGFERGPFSE RQIKNFHKLV 
       410        420        430        440        450
RERQEGEAKT ANQLMNDFAE KETLKQKQID EIRDKKTGLG RIIELKSEIL 
       460        470        480        490        500
SKKQNELKNV KYELQQLEGS SDRILELDQE LIKAERELSK AEKNSNVETL 
       510        520        530        540        550
KMEVISLQNE KADLDRTLRK LDQEMEQLNH HTTTRTQMEM LTKDKADKDE 
       560        570        580        590        600
QIRKIKSRHS DELTSLLGYF PNKKQLEDWL HSKSKEINQT RDRLAKLNKE 
       610        620        630        640        650
LASSEQNKNH INNELKRKEE QLSSYEDKLF DVCGSQDFES DLDRLKEEIE 
       660        670        680        690        700
KSSKQRAMLA GATAVYSQFI TQLTDENQSC CPVCQRVFQT EAELQEVISD 
       710        720        730        740        750
LQSKLRLAPD KLKSTESELK KKEKRRDEML GLVPMRQSII DLKEKEIPEL 
       760        770        780        790        800
RNKLQNVNRD IQRLKNDIEE QETLLGTIMP EEESAKVCLT DVTIMERFQM 
       810        820        830        840        850
ELKDVERKIA QQAAKLQGID LDRTVQQVNQ EKQEKQHKLD TVSSKIELNR 
       860        870        880        890        900
KLIQDQQEQI QHLKSTTNEL KSEKLQISTN LQRRQQLEEQ TVELSTEVQS 
       910        920        930        940        950
LYREIKDAKE QVSPLETTLE KFQQEKEELI NKKNTSNKIA QDKLNDIKEK 
       960        970        980        990       1000
VKNIHGYMKD IENYIQDGKD DYKKQKETEL NKVIAQLSEC EKHKEKINED 
      1010       1020       1030       1040       1050
MRLMRQDIDT QKIQERWLQD NLTLRKRNEE LKEVEEERKQ HLKEMGQMQV 
      1060       1070       1080       1090       1100
LQMKSEHQKL EENIDNIKRN HNLALGRQKG YEEEIIHFKK ELREPQFRDA 
      1110       1120       1130       1140       1150
EEKYREMMIV MRTTELVNKD LDIYYKTLDQ AIMKFHSMKM EEINKIIRDL 
      1160       1170       1180       1190       1200
WRSTYRGQDI EYIEIRSDAD ENVSASDKRR NYNYRVVMLK GDTALDMRGR 
      1210       1220       1230       1240       1250
CSAGQKVLAS LIIRLALAET FCLNCGIIAL DEPTTNLDRE NIESLAHALV 
      1260       1270       1280       1290       1300
EIIKSRSQQR NFQLLVITHD EDFVELLGRS EYVEKFYRIK KNIDQCSEIV 
      1310 
KCSVSSLGFN VH
Length:1,312
Mass (Da):153,892
Last modified:February 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1F208C3817FC41FC
GO
Isoform 2 (identifier: Q92878-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-5: MSRIE → MLIFSVRDMFA

Show »
Length:1,318
Mass (Da):154,587
Checksum:i54B578956FC29852
GO
Isoform 3 (identifier: Q92878-3) [UniParc]FASTAAdd to basket
Also known as: RAD50-3

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.

Show »
Length:1,173
Mass (Da):138,432
Checksum:iD6734A4E4D898AAE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EN38E7EN38_HUMAN
DNA repair protein RAD50
RAD50
660Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C1B7A0A494C1B7_HUMAN
DNA repair protein RAD50
RAD50
894Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494BZX5A0A494BZX5_HUMAN
DNA repair protein RAD50
RAD50
606Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7ESD9E7ESD9_HUMAN
DNA repair protein RAD50
RAD50
551Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494BZX8A0A494BZX8_HUMAN
DNA repair protein RAD50
RAD50
258Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C0Y7A0A494C0Y7_HUMAN
DNA repair protein RAD50
RAD50
482Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C122A0A494C122_HUMAN
DNA repair protein RAD50
RAD50
659Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0P8H7C0P8_HUMAN
DNA repair protein RAD50
RAD50
158Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0V2H7C0V2_HUMAN
DNA repair protein RAD50
RAD50
157Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PM98E9PM98_HUMAN
DNA repair protein RAD50
RAD50
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH62603 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti204K → E in CAA99729 (Ref. 3) Curated1
Sequence conflicti723E → K in AAH62603 (PubMed:15489334).Curated1
Sequence conflicti723E → K in AAH73850 (PubMed:15489334).Curated1
Sequence conflicti733V → A in CAA99729 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02552694I → L1 PublicationCorresponds to variant dbSNP:rs28903085EnsemblClinVar.1
Natural variantiVAR_029168127V → I. Corresponds to variant dbSNP:rs28903086EnsemblClinVar.1
Natural variantiVAR_022085191T → I. Corresponds to variant dbSNP:rs2230017EnsemblClinVar.1
Natural variantiVAR_029169193R → W. Corresponds to variant dbSNP:rs28903087EnsemblClinVar.1
Natural variantiVAR_025527224R → H1 PublicationCorresponds to variant dbSNP:rs28903088EnsemblClinVar.1
Natural variantiVAR_034436315V → L. Corresponds to variant dbSNP:rs28903090Ensembl.1
Natural variantiVAR_061779469G → A. Corresponds to variant dbSNP:rs55653181EnsemblClinVar.1
Natural variantiVAR_020958616K → E1 PublicationCorresponds to variant dbSNP:rs1047380Ensembl.1
Natural variantiVAR_020959697V → A1 PublicationCorresponds to variant dbSNP:rs1047382Ensembl.1
Natural variantiVAR_029170842V → A. Corresponds to variant dbSNP:rs28903093EnsemblClinVar.1
Natural variantiVAR_020960964Y → H1 PublicationCorresponds to variant dbSNP:rs1047386Ensembl.1
Natural variantiVAR_020961973K → M1 PublicationCorresponds to variant dbSNP:rs1129482Ensembl.1
Natural variantiVAR_0209621038R → G. Corresponds to variant dbSNP:rs1047387Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0125901 – 139Missing in isoform 3. 1 PublicationAdd BLAST139
Alternative sequenceiVSP_0125911 – 5MSRIE → MLIFSVRDMFA in isoform 2. 1 Publication5

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U63139 mRNA Translation: AAB07119.1
AF057299 mRNA Translation: AAD50325.1
AF057300 mRNA Translation: AAD50326.1
Z75311 mRNA Translation: CAA99729.1
AC116366 Genomic DNA No translation available.
AC004042 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW62329.1
BC062603 mRNA Translation: AAH62603.1 Sequence problems.
BC073850 mRNA Translation: AAH73850.1
BC136436 mRNA Translation: AAI36437.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34233.1 [Q92878-1]

NCBI Reference Sequences

More...RefSeqi		NP_005723.2, NM_005732.3 [Q92878-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000378823; ENSP00000368100; ENSG00000113522 [Q92878-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10111

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10111

UCSC genome browser

More...UCSCi		uc003kxi.4, human [Q92878-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U63139 mRNA Translation: AAB07119.1
AF057299 mRNA Translation: AAD50325.1
AF057300 mRNA Translation: AAD50326.1
Z75311 mRNA Translation: CAA99729.1
AC116366 Genomic DNA No translation available.
AC004042 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW62329.1
BC062603 mRNA Translation: AAH62603.1 Sequence problems.
BC073850 mRNA Translation: AAH73850.1
BC136436 mRNA Translation: AAI36437.1
CCDSiCCDS34233.1 [Q92878-1]
RefSeqiNP_005723.2, NM_005732.3 [Q92878-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5GOXX-ray2.40A/B585-766[»]
SMRiQ92878
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115417, 171 interactors
ComplexPortaliCPX-4442, MRN complex
CORUMiQ92878
DIPiDIP-33606N
IntActiQ92878, 85 interactors
MINTiQ92878
STRINGi9606.ENSP00000368100

PTM databases

iPTMnetiQ92878
PhosphoSitePlusiQ92878

Genetic variation databases

BioMutaiRAD50
DMDMi60392986

Proteomic databases

CPTACiCPTAC-3286
CPTAC-954
EPDiQ92878
jPOSTiQ92878
MassIVEiQ92878
MaxQBiQ92878
PaxDbiQ92878
PeptideAtlasiQ92878
PRIDEiQ92878
ProteomicsDBi75562 [Q92878-1]
75563 [Q92878-2]
75564 [Q92878-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		14460, 440 antibodies

The CPTC Antibody Portal

More...CPTCi		Q92878, 2 antibodies

Genome annotation databases

EnsembliENST00000378823; ENSP00000368100; ENSG00000113522 [Q92878-1]
GeneIDi10111
KEGGihsa:10111
UCSCiuc003kxi.4, human [Q92878-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10111
DisGeNETi10111

GeneCards: human genes, protein and diseases

More...GeneCardsi		RAD50
HGNCiHGNC:9816, RAD50
HPAiENSG00000113522, Low tissue specificity
MalaCardsiRAD50
MIMi604040, gene
613078, phenotype
neXtProtiNX_Q92878
OpenTargetsiENSG00000113522
Orphaneti145, Hereditary breast and ovarian cancer syndrome
240760, Nijmegen breakage syndrome-like disorder
PharmGKBiPA34175
VEuPathDBiHostDB:ENSG00000113522.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0962, Eukaryota
GeneTreeiENSGT00390000018781
HOGENOMiCLU_006184_0_0_1
InParanoidiQ92878
OMAiCFGVNCG
PhylomeDBiQ92878
TreeFamiTF101217

Enzyme and pathway databases

PathwayCommonsiQ92878
ReactomeiR-HSA-2559586, DNA Damage/Telomere Stress Induced Senescence
R-HSA-5685938, HDR through Single Strand Annealing (SSA)
R-HSA-5685939, HDR through MMEJ (alt-NHEJ)
R-HSA-5685942, HDR through Homologous Recombination (HRR)
R-HSA-5693548, Sensing of DNA Double Strand Breaks
R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693571, Nonhomologous End-Joining (NHEJ)
R-HSA-5693579, Homologous DNA Pairing and Strand Exchange
R-HSA-5693607, Processing of DNA double-strand break ends
R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation
R-HSA-69473, G2/M DNA damage checkpoint
R-HSA-912446, Meiotic recombination
SIGNORiQ92878

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10111, 58 hits in 879 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		RAD50, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Rad50

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		10111
PharosiQ92878, Tbio

Protein Ontology

More...PROi		PR:Q92878
RNActiQ92878, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000113522, Expressed in corpus callosum and 232 other tissues
ExpressionAtlasiQ92878, baseline and differential
GenevisibleiQ92878, HS

Family and domain databases

InterProiView protein in InterPro
IPR027417, P-loop_NTPase
IPR038729, Rad50/SbcC_AAA
IPR004584, Rad50_eukaryotes
IPR013134, Zn_hook_RAD50
PfamiView protein in Pfam
PF13476, AAA_23, 1 hit
PF04423, Rad50_zn_hook, 1 hit
SUPFAMiSSF52540, SSF52540, 2 hits
TIGRFAMsiTIGR00606, rad50, 1 hit
PROSITEiView protein in PROSITE
PS51131, ZN_HOOK, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRAD50_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92878
Secondary accession number(s): B9EGF5
, O43254, Q6GMT7, Q6P5X3, Q9UP86
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 1997
Last modified: February 10, 2021
This is version 193 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human entries with genetic variants
    List of human entries with genetic variants
  2. Human variants curated from literature reports
    Index of human variants curated from literature reports
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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