Basic Information

Symbol
RPS27A
RNA class
mRNA
Alias
Ribosomal Protein S27a Ubiquitin Carboxyl Extension Protein 80 UBCEP80 Uba80 S27A ES31 Ubiquitin-Ribosomal Protein ES31 Fusion Protein UBCEP1 Ubiquitin And Ribosomal Protein S27a Ubiquitin-40S Ribosomal Protein S27a Epididymis Luminal Protein 112 40S Ribosomal Protein S27a Ubiquitin-CEP80 Ubiquitin C HEL112 CEP80 UBA80 UBC
Location (GRCh38)
2:55229447-55236044
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden unexpected death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_002954.6
Sequence length
785.0 nt
GC content
0.4153

Transcripts

ID Sequence Length GC content
NM_001135592.2 NCBI
AAGACCCAGACUCUUCCCUAGGCUGGGAGAGACUCGGCGGUUGAAAGCA… 970 nt 0.4423
NM_001177413.1 NCBI
GGCGUUCUUCCUUUUCGAUCCGCCAUCUGCGGUGGGUGUCUGCACUUCG… 894 nt 0.4318
NM_002954.6 NCBI
CUUUUCGAUCCGCCAUCUGCGGUGGAGCCGCCACCAAAAUGCAGAUUUU… 785 nt 0.4153
Summary

Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]

Forensic Context

A study in human post-mortem brainstem medulla oblongata tissue from SIDS and control cases demonstrated that the RPS27A gene, which encodes a ubiquitin fusion protein, was significantly upregulated (1.57 times higher) in SIDS cases compared to controls when its expression was normalized using validated stable reference genes (SDHA and UBXN6) [El-Kashef et al. DOI:10.1007/S12024-015-9717-1].