RPL13 gene

ribosomal protein L13

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 L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011]

From UniProt:

Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:31630789, PubMed:23636399). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules (Probable). The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain (Probable). The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (Probable). As part of the LSU, it is probably required for its formation and the maturation of rRNAs (PubMed:31630789). Plays a role in bone development (PubMed:31630789).

From NCBI Gene:

  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE

From UniProt:

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (SEMDIST): An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs. [MIM:618728]

Cytogenetic Location: 16q24.3, which is the long (q) arm of chromosome 16 at position 24.3

Molecular Location: base pairs 89,560,657 to 89,566,829 on chromosome 16 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 16q24.3, which is the long (q) arm of chromosome 16 at position 24.3
  • BBC1
  • D16S44E
  • D16S444E
  • L13
  • SEMDIST