RPL15 gene

ribosomal protein L15

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15E family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Although this gene has been referred to as RPL10, its official symbol is RPL15. This gene has been shown to be overexpressed in some esophageal tumors compared to normal matched tissues. Alternate splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Nov 2011]

From NCBI Gene:

  • Diamond-Blackfan anemia 12

From UniProt:

Diamond-Blackfan anemia 12 (DBA12): 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. [MIM:615550]

Cytogenetic Location: 3p24.2, which is the short (p) arm of chromosome 3 at position 24.2

Molecular Location: base pairs 23,916,804 to 23,923,696 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p24.2, which is the short (p) arm of chromosome 3 at position 24.2
  • DBA12
  • EC45
  • L15
  • RPL10
  • RPLY10
  • RPYL10