Linked Life Data

P46783

Source:http://identifiers.org/uniprot/P46783

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
biopax3:comment
FUNCTION: Component of the 40S ribosomal subunit. SUBUNIT: Component of the small ribosomal subunit. Interacts with PRMT5. The methylated form interacts with NPM1. SUBCELLULAR 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. Co-localizes with NPS1 in the GC region of the nucleolus. PTM: Methylated by PRMT5. Methylation is necessary for its interaction with NPS1, its localization in the granular component (GC) region of the nucleolus, for the proper assembly of ribosomes, protein synthesis and optimal cell proliferation. DISEASE: Defects in RPS10 are the cause of Diamond-Blackfan anemia type 9 (DBA9) [MIM:613308]. It 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 S10e family. GENE SYNONYMS:RPS10. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., SEQUENCE 165 AA; 18898 MW; 64106DFCD97AABA3 CRC64;
biopax3:xref
biopax3:displayName
RS10_HUMAN
biopax3:name
RPS10
biopax3:entityFeature
biopax3:organism
biopax3:sequence
MLMPKKNRIAIYELLFKEGVMVAKKDVHMPKHPELADKNVPNLHVMKAMQSLKSRGYVKEQFAWRHFYWYLTNEGIQYLRDYLHLPPEIVPATLRRSRPETGRPRPKGLEGERPARLTRGEADRDTYRRSAVPPGADKKAEAGAGSATEFQFRGGFGRGRGQPPQ
biopax3:standardName
40S ribosomal protein S10