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).^[5]^[6] As its name suggests, this protein is a component of the superkiller complex.^[6]

Structure

The length of the polypeptide chain is 1,564 amino acids, and the molecular weight is 175,486 Da.^[6] SKIC3 contains six tetratricopeptide repeat domains, explaining its previous name "TTC37" (tetratricopeptide repeat domain 37).^[6]

Function

SKIC3 is a component of the Ski complex which is involved in exosome mediated RNA decay.^[7]

Subcellular distribution

It is localized in the cytoplasmatic space and the cell nucleus.^[5]

Clinical significance

Mutation in the SKIC3 gene are associated with tricho-hepato-enteric syndrome.^[8]^[9]

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.

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