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Description

Gem-associated protein 5 (UniProt: Q8TEQ6, also known as Gemin5) is encoded by the GEMIN5 gene (Gene ID: 25929) in human. Survival of motor neurons (SMN) protein is known to form a stable complex with a group of proteins named gemins. The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs) and thereby plays an important role in the splicing of cellular pre-mRNAs. Gemin5, a highly conserved, multi-functional protein, is a component of the core SMN complex and is found in the nucleoplasm and nuclear bodies known as Gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. It is also abundantly present in the cytoplasm. It plays a role in capturing snRNA into SMN complexes in the cytoplasm for transport into the nucleus. However, in the nucleus it is easily detached from the SMN-Gemin complex. Gemin5 is reported to physically bind to snRNA via a specific AU5-6 sequence located within the highly conserved Sm site and is flanked by a short stem loop that assists in delivery to the SMN complex. The specific snRNP code helps Gemin5 in distinguishing these snRNAs from other forms of cellular RNAs. Gemin5 contains 13 WD repeat domains that mediate its binding to U1 and U4 snRNA. WD domains are also reported to mediate binding to the 7-methylguanosine cap that is found on mRNA and snRNA molecules. Mutations in GEMIN5 gene are known to cause a distinct neurological cerebellar ataxia syndrome, through altered snRNP complex assembly. (Ref.: Kour, S., et al. (2021). Nat. Commun. 12, Article 2558, Hao, L., et al. (2007). BMC Cell Biol. 8:28).