TTC37
| TTC37 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TTC37, KIAA0372, Ski3, THES, tetratricopeptide repeat domain 37 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614589; MGI: 2679923; HomoloGene: 40966; GeneCards: TTC37; OMA:TTC37 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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TTC37 (Tetratricopeptide repeat domain 37) is a protein which in humans is encoded by gene TTC37, located on chromosome 5. [5][6]
Structure
[edit]The length of the polypeptide chain is 1,564 amino acids, and the molecular weight is 175,486 Da.[6] TTC37 contains six tetratricopeptide repeat domains.[6]
Function
[edit]TTC37 is a component of the Ski complex which is involved in exosome mediated RNA decay.[7]
Subcellular distribution
[edit]It is localized in the cytoplasmatic space and the cell nucleus.[5]
Clinical significance
[edit]Mutation in the TTC37 gene are associated with tricho-hepato-enteric syndrome.[8][9]
References
[edit]- 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 "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.
