RBCC Red Blood Cell Collection

RAD50_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: RAD50
Protein names and data: RAD50_HUMAN , DNA repair protein RAD50; hRAD50; 3.6.-.- Lenght: 1312 a.a.
Mass: 153892 Da
fasta formatted sequence
Function: 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 MRE11A. 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 MRE11A to prevent nucleolytic degradation past a given point. The complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN complex may modulate t-loop formation.
Disease: ( OMIM: 604040 613078 ) Nijmegen breakage syndrome-like disorder (NBSLD) [MIM:613078]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus. Chromosome, telomere. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents.
Tissue specificity: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts.

Genetic variants

94 - 94 I -> L (in dbSNP:rs28903085). VAR_025526 28903085
127 - 127 V -> I (in dbSNP:rs28903086). VAR_029168 28903086
191 - 191 T -> I (in dbSNP:rs2230017). VAR_022085 2230017
193 - 193 R -> W (in dbSNP:rs28903087). VAR_029169 28903087
224 - 224 R -> H (in dbSNP:rs28903088). VAR_025527 28903088
315 - 315 V -> L (in dbSNP:rs28903090). VAR_034436 28903090
469 - 469 G -> A (in dbSNP:rs55653181). VAR_061779 55653181
616 - 616 K -> E (in dbSNP:rs1047380). VAR_020958 1047380
697 - 697 V -> A (in dbSNP:rs1047382). VAR_020959 1047382
842 - 842 V -> A (in dbSNP:rs28903093). VAR_029170 28903093
964 - 964 Y -> H (in dbSNP:rs1047386). VAR_020960 1047386
973 - 973 K -> M (in dbSNP:rs1129482). VAR_020961 1129482
1038 - 1038 R -> G (in dbSNP:rs1047387). VAR_020962 1047387

Database cross-references

UniProt: Q92878
Ensembl: ENST00000265335
Ensembl: ENST00000378823
MIM: 604040
MIM: 613078
neXtProt: NX_Q92878
Antibodypedia: Q92878 (may not find the protein thus also not any antibody)
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