ID:RS7_HUMAN DESCRIPTION: RecName: Full=40S ribosomal protein S7; FUNCTION: Required for rRNA maturation. SUBUNIT: Binds IPO9 with high affinity. Interacts with NEK6. INTERACTION: Q00987:MDM2; NbExp=15; IntAct=EBI-354360, EBI-389668; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Note=Co-localizes with NEK6 in the centrosome. PTM: Phosphorylated by NEK6. DISEASE: Defects in RPS7 are the cause of Diamond-Blackfan anemia type 8 (DBA8) [MIM:612563]. DBA8 is 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. SIMILARITY: Belongs to the ribosomal protein S7e family.
Protein Domain and Structure Information
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Other Names for This Gene
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.
