Protein-coding gene in the species Homo sapiens
TTC37 |
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Identifiers |
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Aliases | TTC37, KIAA0372, Ski3, THES, tetratricopeptide repeat domain 37 |
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External IDs | OMIM: 614589; MGI: 2679923; HomoloGene: 40966; GeneCards: TTC37; OMA:TTC37 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 5 (human)[1] |
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| Band | 5q15 | Start | 95,461,755 bp[1] |
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End | 95,554,977 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 13 (mouse)[2] |
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| Band | 13|13 C1 | Start | 76,246,853 bp[2] |
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End | 76,338,435 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| Top expressed in | - zygote
- secondary oocyte
- hand
- primary oocyte
- cumulus cell
- spermatid
- otolith organ
- utricle
- lacrimal gland
- internal carotid artery
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | | Cellular component | - Ski complex
- nucleoplasm
- nucleus
- cytoplasm
- cytosol
| Biological process | - exonucleolytic catabolism of deadenylated mRNA
- RNA catabolic process
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 5: 95.46 – 95.55 Mb | Chr 13: 76.25 – 76.34 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
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
TTC37 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 TTC37 gene are associated with tricho-hepato-enteric syndrome.[8][9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000198677 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "HUGO Gene Nomenclature Committee, HGNC:23639". Archived from the original on 2017-09-16. Retrieved 2017-09-18.
- ^ a b c "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.
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