UniProt functional annotation for P46783



	UniProt functional annotation for P46783

UniProt code: P46783.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Component of the 40S ribosomal subunit.

Subunit: Component of the small ribosomal subunit. Interacts with PRMT5. The methylated form interacts with NPM1. {ECO:0000269|PubMed:20159986}.

Subcellular location: Cytoplasm {ECO:0000269|PubMed:20159986}. Nucleus, nucleolus {ECO:0000269|PubMed:20159986}. 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.

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. {ECO:0000269|PubMed:20159986}.

Ptm: Monoubiquitinated by ZNF598 when a ribosome has stalled during translation of poly(A) sequences, leading to preclude synthesis of a long poly-lysine tail and initiate the ribosome quality control (RQC) pathway to degrade the potentially detrimental aberrant nascent polypeptide (PubMed:28065601, PubMed:28132843). {ECO:0000269|PubMed:28065601, ECO:0000269|PubMed:28132843}.

Disease: 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. {ECO:0000269|PubMed:20116044}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the eukaryotic ribosomal protein eS10 family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Component of the 40S ribosomal subunit.


Subunit:		Component of the small ribosomal subunit. Interacts with PRMT5. The methylated form interacts with NPM1. {ECO:0000269\|PubMed:20159986}.
Subcellular location:		Cytoplasm {ECO:0000269\|PubMed:20159986}. Nucleus, nucleolus {ECO:0000269\|PubMed:20159986}. 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.
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. {ECO:0000269\|PubMed:20159986}.
Ptm:		Monoubiquitinated by ZNF598 when a ribosome has stalled during translation of poly(A) sequences, leading to preclude synthesis of a long poly-lysine tail and initiate the ribosome quality control (RQC) pathway to degrade the potentially detrimental aberrant nascent polypeptide (PubMed:28065601, PubMed:28132843). {ECO:0000269\|PubMed:28065601, ECO:0000269\|PubMed:28132843}.
Disease:		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. {ECO:0000269\|PubMed:20116044}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the eukaryotic ribosomal protein eS10 family. {ECO:0000305}.