RPS27

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Studies in rat indicate that ribosomal protein S27 is located near ribosomal protein S18 in the 40S subunit and is covalently linked to translation initiation factor eIF3. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]

Full Name

Ribosomal Protein S27

Function

Component of the small ribosomal subunit (PubMed:8706699).
Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902).

Biological Process

Biological Process cytoplasmic translation1 PublicationIC:FlyBase
Biological Process ribosomal small subunit assemblyManual Assertion Based On ExperimentIBA:GO_Central
Biological Process rRNA processingManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process translation1 PublicationNAS:UniProtKB

Cellular Location

cytosol
cytosolic ribosome
cytosolic small ribosomal subunit
nucleoplasm
nucleus
postsynaptic density
ribosome

Involvement in disease

Diamond-Blackfan anemia 17 (DBA17):
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.