MGP Database

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MGP002841

UniProt Annotations

Entry Information
Gene Namesuperkiller viralicidic activity 2-like (S. cerevisiae)
Protein EntrySKIV2_HUMAN
UniProt IDQ15477
SpeciesHuman
Comments
Comment typeDescription
DiseaseTrichohepatoenteric syndrome 2 (THES2) [MIM:614602]: 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. {ECO:0000269|PubMed:22444670}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHelicase; 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).
Sequence CautionSequence=AAB52523.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the helicase family. SKI2 subfamily. {ECO:0000305}.
SimilarityContains 1 helicase ATP-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00541}.
SimilarityContains 1 helicase C-terminal domain. {ECO:0000255|PROSITE-ProRule:PRU00542}.
Subcellular LocationNucleus {ECO:0000305}. Cytoplasm {ECO:0000305}.
SubunitComponent of the SKI complex which consists of WDR61, SKIV2L and TTC37. {ECO:0000269|PubMed:16024656}.
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