RBCC Red Blood Cell Collection

RS10_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: RPS10
Protein names and data: RS10_HUMAN , 40S ribosomal protein S10 Lenght: 165 a.a.
Mass: 18898 Da
fasta formatted sequence
Function: Component of the 40S ribosomal subunit.
Disease: ( OMIM: 603632 613308 ) Diamond-Blackfan anemia 9 (DBA9) [MIM:613308]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Nucleus, nucleolus. Note=Localized in the granular component (GC) region of the nucleolus. Methylation is required for its localization in the GC region. Colocalizes with NPS1 in the GC region of the nucleolus.

Database cross-references

UniProt: P46783
Ensembl: ENST00000326199
MIM: 603632
MIM: 613308
neXtProt: NX_P46783
Antibodypedia: P46783 (may not find the protein thus also not any antibody)
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