UniProt functional annotation for P42677

UniProt code: P42677.

Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Function:		Component of the small ribosomal subunit (PubMed:8706699). Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902). {ECO:0000269|PubMed:25424902, ECO:0000305|PubMed:8706699}.
Cofactor:		Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000305}; Note=Binds 1 zinc ion per subunit. {ECO:0000305};
Subunit:		Component of the small ribosomal subunit. {ECO:0000305|PubMed:8706699}.
Tissue specificity:		Expressed in a wide variety of actively proliferating cells and tumor tissues.
Disease:		Diamond-Blackfan anemia 17 (DBA17) [MIM:617409]: 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:25424902}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the eukaryotic ribosomal protein eS27 family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.