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MGP002705

UniProt Annotations

Entry Information
Gene Nameribosomal protein S7
Protein EntryRS7_HUMAN
UniProt IDP62081
SpeciesHuman
Comments
Comment typeDescription
DiseaseDiamond-Blackfan anemia 8 (DBA8) [MIM:612563]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:19061985}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRequired for rRNA maturation. {ECO:0000269|PubMed:19061985}.
InteractionQ00987:MDM2; NbExp=15; IntAct=EBI-354360, EBI-389668; Q15843:NEDD8; NbExp=2; IntAct=EBI-354360, EBI-716247;
PtmPhosphorylated by NEK6. {ECO:0000269|PubMed:20873783}.
SimilarityBelongs to the ribosomal protein S7e family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20873783}. Note=Colocalizes with NEK6 in the centrosome.
SubunitBinds IPO9 with high affinity. Interacts with NEK6. {ECO:0000269|PubMed:11823430, ECO:0000269|PubMed:20873783}.
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