ENSG00000113522


Homo sapiens

Features
Gene ID: ENSG00000113522
  
Biological name :RAD50
  
Synonyms : Q92878 / RAD50 / RAD50 double strand break repair protein
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q31.1
Gene start: 132556019
Gene end: 132646344
  
Corresponding Affymetrix probe sets: 208393_s_at (Human Genome U133 Plus 2.0 Array)   209349_at (Human Genome U133 Plus 2.0 Array)   238656_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000389515
Ensembl peptide - ENSP00000431225
Ensembl peptide - ENSP00000400049
Ensembl peptide - ENSP00000396860
Ensembl peptide - ENSP00000396100
Ensembl peptide - ENSP00000390971
Ensembl peptide - ENSP00000368100
NCBI entrez gene - 10111     See in Manteia.
OMIM - 604040
RefSeq - NM_005732
RefSeq Peptide - NP_005723
swissprot - C9JNH8
swissprot - H7C0P8
swissprot - H7C0V2
swissprot - E9PM98
swissprot - Q92878
swissprot - E7ESD9
swissprot - E7EN38
Ensembl - ENSG00000113522
  
Related genetic diseases (OMIM): 613078 - Nijmegen breakage syndrome-like disorder, 613078
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rad50ENSDARG00000038917Danio rerio
 ENSGALG00000006794Gallus gallus
 Rad50ENSMUSG00000020380Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC116366.3ENSG0000028378292


Protein motifs (from Interpro)
Interpro ID Name
 IPR004584  DNA repair protein Rad50, eukaryotes
 IPR013134  RAD50, zinc hook
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000019 regulation of mitotic recombination IDA
 biological_processGO:0000722 telomere maintenance via recombination IBA
 biological_processGO:0000723 telomere maintenance IEA
 biological_processGO:0000724 double-strand break repair via homologous recombination TAS
 biological_processGO:0000729 DNA double-strand break processing TAS
 biological_processGO:0000731 DNA synthesis involved in DNA repair TAS
 biological_processGO:0000732 strand displacement TAS
 biological_processGO:0006260 DNA replication TAS
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006302 double-strand break repair IMP
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006310 DNA recombination IDA
 biological_processGO:0006974 cellular response to DNA damage stimulus IDA
 biological_processGO:0007004 telomere maintenance via telomerase IDA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007131 reciprocal meiotic recombination TAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0031860 telomeric 3" overhang formation IMP
 biological_processGO:0031954 positive regulation of protein autophosphorylation IDA
 biological_processGO:0032206 positive regulation of telomere maintenance IMP
 biological_processGO:0032508 DNA duplex unwinding IMP
 biological_processGO:0033674 positive regulation of kinase activity IDA
 biological_processGO:0046939 nucleotide phosphorylation IEA
 biological_processGO:0051321 meiotic cell cycle IEA
 biological_processGO:0070192 chromosome organization involved in meiotic cell cycle IBA
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 biological_processGO:1904354 negative regulation of telomere capping IDA
 cellular_componentGO:0000781 chromosome, telomeric region IEA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IDA
 cellular_componentGO:0000790 nuclear chromatin IBA
 cellular_componentGO:0000794 condensed nuclear chromosome IBA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0030870 Mre11 complex IEA
 cellular_componentGO:0035861 site of double-strand break IDA
 molecular_functionGO:0000014 single-stranded DNA endodeoxyribonuclease activity IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003691 double-stranded telomeric DNA binding IBA
 molecular_functionGO:0004003 ATP-dependent DNA helicase activity IMP
 molecular_functionGO:0004017 adenylate kinase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008408 3"-5" exonuclease activity IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0030674 protein binding, bridging IDA
 molecular_functionGO:0043047 single-stranded telomeric DNA binding IBA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051880 G-quadruplex DNA binding IBA


Pathways (from Reactome)
Pathway description
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
Meiotic recombination


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000540 Hypermetropia 
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 HP:0001249 Mental retardation 
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
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 HP:0002894 Pancreatic cancer 
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 HP:0003002 Breast cancer 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0010997 Chromosomal breakage induced by ionizing radiation "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation." [HPO:sdoelken, pmid:16814619]
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 HP:0011027 Abnormality of the fallopian tube "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson]
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 HP:0012125 Prostate cancer "A cancer of the `prostate` (FMA:9600)." [HPO:probinson]
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 HP:0030406 Primary peritoneal carcinoma "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson]
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000011485 PPP5C / P53041 / protein phosphatase 5 catalytic subunit  / reaction
 ENSG00000127663 KDM4B / O94953 / lysine demethylase 4B  / reaction / complex
 ENSG00000080345 RIF1 / Q5UIP0 / replication timing regulatory factor 1  / complex / reaction
 ENSG00000136492 BRIP1 / Q9BX63 / BRCA1 interacting protein C-terminal helicase 1  / complex / reaction
 ENSG00000051341 POLQ / O75417 / DNA polymerase theta  / complex / reaction
 ENSG00000104320 NBN / nibrin / O60934  / complex / reaction
 ENSG00000138376 BARD1 / Q99728 / BRCA1 associated RING domain 1  / complex / reaction
 ENSG00000067369 Q12888 / TP53BP1 / tumor protein p53 binding protein 1  / complex / reaction
 ENSG00000166313 APBB1 / O00213 / amyloid beta precursor protein binding family B member 1  / reaction / complex
 ENSG00000109685 NSD2 / O96028 / nuclear receptor binding SET domain protein 2  / complex / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / complex / reaction
 ENSG00000168496 FEN1 / P39748 / flap structure-specific endonuclease 1  / complex / reaction
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / complex / reaction
 ENSG00000183765 CHEK2 / O96017 / checkpoint kinase 2  / reaction / complex
 ENSG00000163961 Q8IYW5 / RNF168 / ring finger protein 168  / reaction / complex
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / reaction / complex
 ENSG00000101773 RBBP8 / Q99708 / RB binding protein 8, endonuclease  / complex / reaction
 ENSG00000188612 SUMO2 / P61956 / small ubiquitin-like modifier 2  / complex / reaction
 ENSG00000163322 Q6UWZ7 / ABRAXAS1 / abraxas 1, BRCA1 A complex subunit  / complex / reaction
 ENSG00000196419 XRCC6 / P12956 / X-ray repair cross complementing 6  / reaction
 ENSG00000012048 BRCA1 / P38398 / BRCA1, DNA repair associated  / complex / reaction
 ENSG00000152457 Q96SD1 / DCLRE1C / DNA cross-link repair 1C  / reaction / complex
 ENSG00000107643 MAPK8 / P45983 / mitogen-activated protein kinase 8  / reaction / complex
 ENSG00000158161 EYA3 / Q99504 / EYA transcriptional coactivator and phosphatase 3  / reaction
 ENSG00000143799 PARP1 / P09874 / poly(ADP-ribose) polymerase 1  / complex / reaction
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / complex / reaction
 ENSG00000066135 KDM4A / O75164 / lysine demethylase 4A  / reaction / complex
 ENSG00000188486 H2AFX / P16104 / H2A histone family member X  / complex / reaction
 ENSG00000137337 MDC1 / Q14676 / mediator of DNA damage checkpoint 1  / complex / reaction
 ENSG00000079246 XRCC5 / P13010 / X-ray repair cross complementing 5  / reaction
 ENSG00000087206 UIMC1 / Q96RL1 / ubiquitin interaction motif containing 1  / complex / reaction
 ENSG00000106399 RPA3 / P35244 / replication protein A3  / reaction / complex
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / complex / reaction
 ENSG00000157212 PAXIP1 / Q6ZW49 / PAX interacting protein 1  / complex / reaction
 ENSG00000005156 LIG3 / P49916 / DNA ligase 3  / reaction / complex
 ENSG00000138346 DNA2 / P51530 / DNA replication helicase/nuclease 2  / complex / reaction
 ENSG00000175054 ATR / Q13535 / ATR serine/threonine kinase  / complex / reaction
 ENSG00000165392 WRN / Q14191 / Werner syndrome RecQ like helicase  / reaction / complex
 ENSG00000169139 Q15819 / UBE2V2 / ubiquitin conjugating enzyme E2 V2  / reaction / complex
 ENSG00000177302 TOP3A / Q13472 / DNA topoisomerase III alpha  / complex / reaction
 ENSG00000175643 RMI2 / Q96E14 / RecQ mediated genome instability 2  / reaction / complex
 ENSG00000174371 EXO1 / Q9UQ84 / exonuclease 1  / reaction / complex
 ENSG00000128731 HERC2 / O95714 / HECT and RLD domain containing E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000197299 BLM / P54132 / Bloom syndrome RecQ like helicase  / reaction / complex
 ENSG00000132383 RPA1 / P27694 / replication protein A1  / reaction / complex
 ENSG00000105229 PIAS4 / Q8N2W9 / protein inhibitor of activated STAT 4  / complex / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction / complex
 ENSG00000164053 ATRIP / Q8WXE1 / ATR interacting protein  / complex / reaction
 ENSG00000073050 XRCC1 / P18887 / X-ray repair cross complementing 1  / reaction / complex
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction
 ENSG00000117748 RPA2 / P15927 / replication protein A2  / reaction / complex
 ENSG00000123374 CDK2 / P24941 / cyclin dependent kinase 2  / reaction / complex
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000112130 RNF8 / O76064 / ring finger protein 8  / complex / reaction
 ENSG00000178966 RMI1 / Q9H9A7 / RecQ mediated genome instability 1  / complex / reaction






 

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