SKIC3 (SKI3 Subunit of Superkiller Complex)
A component of the SKI complex involved in RNA exosome activation and 3'-5' RNA degradation
Gene Information Card
| Symbol | SKIC3 |
|---|---|
| Full Name | SKI3 Subunit of Superkiller Complex |
| Gene Type | Protein coding |
| Chromosomal Location | 5q15 |
| NCBI Gene ID | 9652 ncbi.nlm.nih.gov/gene/9652 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q9H2L4 |
| OMIM ID | 614150 |
| HGNC ID | 29198 |
| Aliases | TTC37, KIAA0372, SKI3, THEX3 |
Description
SKIC3 encodes a tetratricopeptide repeat (TPR)-containing protein that is a core component of the SKI complex. The SKI complex is required for the activation of the RNA exosome in the 3'-5' degradation of RNA, including aberrant mRNAs and non-coding RNAs. SKIC3 interacts with SKIC8 and SKIC2 to form the helicase module that unwinds RNA substrates for exosome entry.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Trichohepatoenteric Syndrome (THES) | Loss-of-function mutations in SKIC3 impair RNA surveillance, leading to abnormal RNA metabolism and multisystem disease | OMIM #222470; ClinVar |
| Intellectual Disability | Disruption of RNA degradation pathways affects neuronal development | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Small Intestine | 10.8 | Medium |
| Testis | 9.2 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma |
| K562 | 8.7 | Chronic myeloid leukemia |
| HeLa | 7.5 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2803C>T (p.Arg935*) | Nonsense | Rare | Loss of function; associated with THES |
| c.1090_1091del (p.Leu364Valfs*2) | Frameshift | Rare | Loss of function; associated with THES |
| c.1687G>A (p.Gly563Arg) | Missense | Rare | Likely damaging; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature truncation, leading to loss of SKI complex integrity and impaired RNA exosome activation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA exosome activity | • 3'-5' exoribonuclease activity |
| • RNA helicase activity | • cytoplasmic exosome (RNase complex) |
| • nuclear exosome (RNase complex) | • RNA surveillance |
| • mRNA catabolic process |
Pathways
• RNA degradation (KEGG: hsa03018)
• Exosome-mediated RNA decay (Reactome: R-HSA-429958)
Protein Summary
SKIC3 is a 1,324-amino-acid protein with multiple TPR domains that mediate protein-protein interactions within the SKI complex. It is essential for the helicase activity of the complex, which unwinds structured RNA substrates for processive degradation by the RNA exosome. The protein is localized in both the cytoplasm and nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SKIC3 Knockout HEK293 Cell Line | EDJ-KQ15271 | Human | 9652 | Details Get a Quote |
| SKIC3 Knockout A-549 Cell Line | EDJ-KQ45966 | Human | 9652 | Details Get a Quote |
| SKIC3 Knockout HCT 116 Cell Line | EDJ-KQ45967 | Human | 9652 | Details Get a Quote |
| SKIC3 Knockout HeLa Cell Line | EDJ-KQ45968 | Human | 9652 | Details Get a Quote |
