Superkiller complex protein 3

SKIC3
Identifiers
Aliases	SKIC3, KIAA0372, Ski3, THES, tetratricopeptide repeat domain 37, TTC37, SKI3 subunit of superkiller complex
External IDs	OMIM: 614589; MGI: 2679923; GeneCards: SKIC3
Gene location (Human)
Chr.	Chromosome 5 (human)
End	95,554,977 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	76,338,435 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; stromal cell of endometrium; ; skin of thigh; ; right hemisphere of cerebellum; ; skin of hip; ; germinal epithelium; ; epithelium of colon; ; biceps brachii; ; body of pancreas; ; skin of abdomen;
	Top expressed in
	zygote; ; secondary oocyte; ; hand; ; primary oocyte; ; cumulus cell; ; spermatid; ; otolith organ; ; utricle; ; lacrimal gland; ; internal carotid artery;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	Ski complex; nucleoplasm; nucleus; cytoplasm; cytosol;
Biological process	exonucleolytic catabolism of deadenylated mRNA; RNA catabolic process;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	9652
	218343
	ENSG00000198677
	ENSMUSG00000033991
	Q6PGP7
	F8VPK0
	NM_014639
	NM_001081352
	NP_055454
	NP_001074821
	Wikidata
View/Edit Human	View/Edit Mouse

Superkiller complex protein 3 (or Ski3) is a protein which in humans is encoded by gene SKIC3 (previously TTC37). As its name suggests, this protein is a component of the superkiller complex.

Structure

The length of the polypeptide chain is 1,564 amino acids, and the molecular weight is 175,486 Da. SKIC3 contains six tetratricopeptide repeat domains, explaining its previous name "TTC37" (tetratricopeptide repeat domain 37).

Function

SKIC3 is a component of the Ski complex which is involved in exosome mediated RNA decay.

Subcellular distribution

It is localized in the cytoplasmatic space and the cell nucleus.

Clinical significance

Mutation in the SKIC3 gene are associated with tricho-hepato-enteric syndrome.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000198677 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033991 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 "HUGO Gene Nomenclature Committee, HGNC:23639". Archived from the original on 2017-09-16. Retrieved 2017-09-18.
1 2 3 4 "UniProt, Q6PGP7". Retrieved 2017-09-18.
↑ Kögel A, Keidel A, Bonneau F, Schäfer IB, Conti E (February 2022). "The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism". Molecular Cell. 82 (4): 756–769.e8. doi:10.1016/j.molcel.2022.01.009. PMC 8860381. PMID 35120588.
↑ Poulton C, Pathak G, Mina K, Lassman T, Azmanov DN, McCormack E, et al. (May 2019). "Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea". Gene. 699: 110–114. doi:10.1016/j.gene.2019.02.059. PMC 7872052. PMID 30844479.
↑ Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N, Fabre A, Badens C (June 2018). "Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects". Human Mutation. 39 (6): 774–789. doi:10.1002/humu.23418. PMID 29527791. S2CID 4331400.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000198677 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033991 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[HGNC-5] 1 2 "HUGO Gene Nomenclature Committee, HGNC:23639". Archived from the original on 2017-09-16. Retrieved 2017-09-18.

[UniProt-6] 1 2 3 4 "UniProt, Q6PGP7". Retrieved 2017-09-18.

[Kögel_2022-7] Kögel A, Keidel A, Bonneau F, Schäfer IB, Conti E (February 2022). "The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism". Molecular Cell. 82 (4): 756–769.e8. doi:10.1016/j.molcel.2022.01.009. PMC 8860381. PMID 35120588.

[Poulton_2019-8] Poulton C, Pathak G, Mina K, Lassman T, Azmanov DN, McCormack E, et al. (May 2019). "Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea". Gene. 699: 110–114. doi:10.1016/j.gene.2019.02.059. PMC 7872052. PMID 30844479.

[Bourgeois_2018-9] Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N, Fabre A, Badens C (June 2018). "Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects". Human Mutation. 39 (6): 774–789. doi:10.1002/humu.23418. PMID 29527791. S2CID 4331400.