SKIV2L

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex.

Full Name

Ski2 Like RNA Helicase

Function

Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C).

Biological Process

Biological Process nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decayManual Assertion Based On ExperimentIBA:GO_Central
Biological Process RNA catabolic processManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Nucleus
Cytoplasm

Involvement in disease

Trichohepatoenteric syndrome 2 (THES2):
A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients.