RPL13A
Description
The RPL13A (ribosomal protein L13a) is a protein-coding gene located on chromosome 19.
RPL13A is a human gene that encodes a ribosomal protein known as 60S ribosomal protein L13a. This protein is part of the large 60S subunit of ribosomes, the cellular machinery responsible for protein synthesis. Ribosomes are made up of two subunits, a small 40S subunit and a large 60S subunit, which contain various RNA molecules and proteins. RPL13A belongs to the L13P family of ribosomal proteins and is located in the cytoplasm. Multiple transcript variants of RPL13A have been observed, resulting from the use of alternative polyadenylation signals. This gene is also co-transcribed with other small nucleolar RNA genes (U32, U33, U34, and U35) found within its introns. Similar to other ribosomal protein genes, RPL13A has several processed pseudogenes scattered throughout the genome.
RPL13A is associated with ribosomes but is not required for canonical ribosome function and has additional roles outside of ribosomes. It is a component of the GAIT (gamma interferon-activated inhibitor of translation) complex, which plays a role in regulating translation during inflammation. When activated by interferon-gamma, RPL13A is phosphorylated, detaches from the ribosome, and joins the GAIT complex. This complex then binds to specific sequences (GAIT elements) in the 3'-UTR of inflammatory mRNAs, suppressing their translation. This interaction with the GAIT complex blocks the recruitment of the 43S ribosomal complex by interfering with the binding of eIF4G, a factor required for ribosome assembly. RPL13A also participates in rRNA methylation.
RPL13A is also known as L13A, TSTA1, uL13.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- aniridia
- cystinosis
- hemophilia A
- Alport syndrome
- hemophilia B
- C1 inhibitor deficiency
- autosomal systemic lupus erythematosus type 16
