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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
RAD50 10111 RAD50 homolog (S. cerevisiae)  5NBSLD; RAD502; hRad50 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
16905549   2006Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

-Down-regulation--

11429044   2001Cell line : 8 CRC Cell line

Source : -

Sample Type : -

No. of Sample : -

Stage : -

-Mutation-RAD50 frameshift mutations may play a role in the tumorigenesis of MSI-H colorectal cancers.

Here authors report that 60% (3 out of 5) of human colorectal cancer cell lines exhibiting a high frequency of MSI (MSI-H) and 46% (6 out of 13) of MSI-H primary colorectal tumors had mutations in the (A)9 repeat of RAD50 recombinational repair gene.

16421660   2006Cell line : -

Source : -

Sample Type : CRC tumor and normal tissue

No. of Sample : 31

Stage : TNM Stage I- IV

-Mutation-Thirty-one colorectal cancers from patients with hereditary nonpolyposis colorectal cancer at different clinicopathologic stages were analyzed for frameshift mutation in 18 genes.

Mutations of the hMSH3, TCF4, CASP5, RIZ, RAD50, and MBD4 genes were comparatively frequent (>35 percent) in all stages.

17534377   2007Cell line : -

Source : -

Sample Type : CRC tumor and normal tissue

No. of Sample : 33

Stage : -

Immunohistochemistry, High-resolution fluorescent-labelling method, Genomic sequencingMutation-The MRE11/RAD50/NBS1 complex destabilization in Lynch-syndrome patients.

Biallelic MRE11 alterations with simultaneously developed RAD50 mutations impaired the protein expressions with different intensity and location in tumour.

Absence of significant association between type B MSI and MRE11 or RAD50 mutations in tumours of Lynch-syndrome patients.

22997602   2012Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

-Mutation--

17384679   2007Cell line : -

Source : -

Sample Type : CRC tumor and normal tissue

No. of Sample : Primary CRC 268, the corresponding distant 69) and adjacent normal mucosa 138, and lymph node metastasis 44

Stage : TNM Stage I-IV

ImmunohistochemistryMutation & Down-regulation-Mutations in MRE11 and/or RAD50 were observed in the vast majority of the tumours and resulted in the concomitant loss of immunohistochemical expression of both proteins.

18219098   2008Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

Immunohistochemistry and PCR-SSCP-DNA sequencing.Mutation & Up-regulation-hRAD50 expression was examined in primary CRC (n=268), the corresponding distant (n=69) and adjacent normal mucosa (n=138), and lymph node metastasis (n=44) by immunohistochemistry.

Frameshift mutations of (A)(9) at coding region of hRAD50 were only found in MSI CRCs.

Increased hRAD50 expression in MSS CRCs while hRAD50 mutation may be involved in the development of MSI CRCs.

18830935   2008Cell line : -

Source : -

Sample Type : CRC tumor and normal tissue

No. of Sample : Primary CRCs 208, the corresponding distant 41 and adjacent normal mucosa 130, and lymph node metastases 26 patient samples

Stage : TNM Stage I-III

ImmunohistochemistryUp-regulation-RAD50/MRE11/NBS1 proteins interacted with each other, which had different clinicopathological significance in MSS and MSI CRCs.


Gene Details



Chromosome: 5; NC_000005.9 (131892616..131980313)

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Gene Type protein coding
Gene Family -
Description 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]  
Chromosome 5
Location 5q31
Start 132556924  
End 132644621  
Strand -  
Gene Sequence

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Length 87698  
OMIM ID 604040   
HGNC ID HGNC:9816   
Unigene ID Hs.633509   
Ensembl ID ENSG00000113522   
PharmGKB ID -   

mRNA Information


mRNA ID NM_005732.3
Exon join(1..530,2361..2444,18854..19005,22394..22579, 22939..23143,30639..30767,31001..31166,31764..31957, 32708..32914,34301..34483,34954..35111,37946..38121, 38650..38887,46377..46566,46997..47123,47883..48076, 51692..51802,52194..52286,52360..52473,59080..59207, 61147..61371,80192..80277,81158..81300,83749..83882, 85255..87698)  
mRNA Sequence

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Length 6597  



CDS Information


   
Locationjoin(402..530,2361..2444,18854..19005,22394..22579, 22939..23143,30639..30767,31001..31166,31764..31957, 32708..32914,34301..34483,34954..35111,37946..38121, 38650..38887,46377..46566,46997..47123,47883..48076, 51692..51802,52194..52286,52360..52473,59080..59207, 61147..61371,80192..80277,81158..81300,83749..83882, 85255..85441)
CDS Sequence

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CCDS ID CCDS34233.1



Protein Information


      
Protein IDNP_005723.2
Protein NameRAD50 homolog (S. cerevisiae)
Molecular Wt. (Da)153762
Protein Sequence

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Length 1312  
Uniprot IDO15197
Ensembl Protein ID ENSP00000376684  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation635
TPhosphorylation690
SPhosphorylation496
TPhosphorylation551
SPhosphorylation640;-
SPhosphorylation501;-
KAcetylation959
KAcetylation820
KAcetylation1285
KAcetylation1146
KAcetylation264
KAcetylation125
SPhosphorylation557
SPhosphorylation418
SPhosphorylation560
SPhosphorylation421
TPhosphorylation536
TPhosphorylation397

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                             
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
4361MRE11A2889NP_005582.1in vitro;in vivo87   566   421   088   888   800   000   000   
4683NBN4050NP_002476.2in vitro;in vivo;yeast 2-hybrid97   052   711   123   895   100   000   000   
60561RINT115250NP_068749.3in vivo11096100   


Pathway Information


            
Pathway Name Pathway ID
Homologous recombination hsa03440
Non-homologous end-joining hsa03450


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd032401195-1297  ABC_Rad50
cl214551195-1297  P-loop_NTPase superfamily
cd032404-166  ABC_Rad50
cl214554-166  P-loop_NTPase superfamily
cd032271197-1298  ABC_Class2
pfam135581183-1251  SbcCD_C
cd03227Jun-85  ABC_Class2
cd002671202-1283  ABC_ATPase
pfam134766-219  AAA_23
cd032261201-1273  ABC_cobalt_CbiO_domain2
cd032211202-1275  ABCF_EF-3
cd032251202-1291  ABC_cobalt_CbiO_domain1
cd032551227-1280  ABC_MJ0796_LolCDE_FtsE
cd032291202-1278  ABC_Class3
pfam04423658-713  Rad50_zn_hook
cl04509658-713  Rad50_zn_hook superfamily
cd032281202-1269  ABCC_MRP_Like
cd0326334-105  ABC_subfamily_A
cd03278Apr-50  ABC_SMC_barmotin
cd032571214-1270  ABC_NikE_OppD_transporters
cd032451195-1279  ABCC_bacteriocin_exporters
cd032461202-1269  ABCC_Protease_Secretion
cd032791202-1275  ABC_sbcCD
cd032141214-1270  ABC_Iron-Siderophores_B12_Hemin
cd032351190-1270  ABC_Metallic_Cations
pfam133041123-1275  AAA_21
pfam1330431-57  AAA_21
cd0323034-82  ABC_DR_subfamily_A
cd0321931-63  ABC_Mj1267_LivG_branched
cd0326534-97  ABC_DrrA
cd032301200-1277  ABC_DR_subfamily_A
cd032991214-1278  ABC_ModC_like
cd032531192-1269  ABCC_ATM1_transporter
cd032611214-1274  ABC_Org_Solvent_Resistant
cd03239Apr-52  ABC_SMC_head
cd0324225-83  ABC_RecF
TIGR011891202-1249  ccmA
TIGR006062-1312  rad50
COG0419416-1275  SbcC
COG04193-770  SbcC
COG1196183-1017  Smc
COG1196241-1128  Smc
TIGR02168190-1012  SMC_prok_B
TIGR02168181-1002  SMC_prok_B
PRK03918417-952  PRK03918
TIGR021694-1016  SMC_prok_A
COG1196187-932  Smc
PRK039183-810  PRK03918
TIGR02169393-1118  SMC_prok_A
COG1196425-1269  Smc
COG1196548-935  Smc
pfam02463251-1297  SMC_N
TIGR02168473-1171  SMC_prok_B
TIGR0061826-925  sbcc
TIGR02169401-745  SMC_prok_A
TIGR02169187-909  SMC_prok_A
pfam05483402-1084  SCP-1
PRK01156427-969  PRK01156
PRK03918447-1272  PRK03918
TIGR02168749-1111  SMC_prok_B
TIGR02168187-537  SMC_prok_B
pfam02463170-1001  SMC_N
COG5185239-530  HEC1
COG1196184-529  Smc
COG11221202-1283  EcfA2
TIGR04523449-1135  Mplasa_alph_rch
pfam12128241-936  DUF3584
TIGR04523183-770  Mplasa_alph_rch
PRK0115625-744  PRK01156
TIGR04523213-960  Mplasa_alph_rch
COG4942710-940  EnvC
PRK01156487-1272  PRK01156
TIGR00618446-1102  sbcc
COG11361202-1292  LolD
COG1196170-487  Smc
COG04881188-1295  Uup
PRK02224208-779  PRK02224
pfam01576264-945  Myosin_tail_1
COG49881192-1271  CydD
TIGR028571192-1279  CydD
COG4372575-927  COG4372
PTZ00121219-1000  PTZ00121
COG4372744-944  COG4372
COG11201202-1270  FepC
pfam12128419-1005  DUF3584
COG4372431-715  COG4372
TIGR01612214-1149  235kDa-fam
COG4942273-493  EnvC
TIGR01612421-1178  235kDa-fam
TIGR02169170-520  SMC_prok_A
pfam13166580-967  AAA_13
pfam05483164-943  SCP-1
PRK05771421-659  PRK05771
pfam13514288-920  AAA_27
COG5022173-647  COG5022
COG4372257-486  COG4372
COG1511585-941  YhgE
COG11311214-1277  CcmA
COG4372797-985  COG4372
PHA02562608-768  46
PRK05771171-284  PRK05771
PRK11281685-1000  PRK11281
TIGR03185592-953  DNA_S_dndD
PHA02562693-994  46
COG04881076-1273  Uup
pfam1351434-929  AAA_27
TIGR018421192-1269  type_I_sec_PrtD
PTZ00121173-772  PTZ00121
TIGR03185561-906  DNA_S_dndD
pfam01496691-966  V_ATPase_I
COG11321192-1275  MdlB
pfam09726676-932  Macoilin
PHA02562825-1008  46
pfam12128420-989  DUF3584
pfam07888561-933  CALCOCO1
TIGR04211838-934  SH3_and_anchor
PRK02224190-620  PRK02224
TIGR03185252-570  DNA_S_dndD
COG4477695-998  EzrA
COG1579182-323  COG1579
TIGR00618183-554  sbcc
pfam09787579-947  Golgin_A5
pfam07888721-1065  CALCOCO1
COG5391361-655  COG5391
COG41721214-1270  YejF
TIGR01000687-998  bacteriocin_acc
TIGR04523224-944  Mplasa_alph_rch
COG49871192-1275  CydC
PTZ00121170-619  PTZ00121
pfam05622470-994  HOOK
COG46181192-1269  ArpD
COG5185285-651  HEC1
COG4372170-378  COG4372
COG4942571-770  EnvC
PRK12704713-911  PRK12704
PRK1354831-61  hmuV
pfam01496510-773  V_ATPase_I
COG3264799-941  MscK
PRK105841214-1271  PRK10584
TIGR02231821-927  TIGR02231
TIGR022111214-1279  LolD_lipo_ex
pfam10174172-835  Cast
COG11241214-1275  DppF
TIGR04211825-927  SH3_and_anchor
pfam10186797-932  Atg14
COG391027-70  COG3910
COG5185645-991  HEC1
pfam05911524-922  DUF869
TIGR02971795-925  heterocyst_DevB
smart00787821-954  Spc7
PRK107901202-1285  PRK10790
TIGR01843328-492  type_I_hlyD
PRK12704201-365  PRK12704
COG1579208-380  COG1579
COG04441227-1270  DppD
pfam07111328-927  HCR
PRK11637710-941  PRK11637
pfam05622125-528  HOOK
COG38421214-1270  PotA
COG11271171-1272  MlaF
PRK11281689-1052  PRK11281
PRK116291214-1279  lolD
PRK136481202-1270  cbiO
pfam00901222-328  Orbi_VP5
pfam05557230-765  MAD


Ontology Information


   
HPRD ID2563
Molecular ClassDNA binding protein
Molecular FunctionReceptor signaling complex scaffold activity (GO:0030159)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO