Adrenocortical dysplasia protein homolog
Adrenocortical dysplasia protein homolog is a protein that in humans is encoded by the ACD gene.[5][6][7]
Function
This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I.[7]
Interactions
ACD (gene) has been shown to interact with POT1[5][6][8] and TINF2.[5][6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000102977 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038000 – 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 c Ye JZ, Hockemeyer D, Krutchinsky AN, Loayza D, Hooper SM, Chait BT, de Lange T (July 2004). "POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex". Genes Dev. 18 (14): 1649–54. doi:10.1101/gad.1215404. PMC 478187. PMID 15231715.
- ^ a b c Liu D, Safari A, O'Connor MS, Chan DW, Laegeler A, Qin J, Songyang Z (July 2004). "PTOP interacts with POT1 and regulates its localization to telomeres". Nat Cell Biol. 6 (7): 673–80. doi:10.1038/ncb1142. PMID 15181449.
- ^ a b "Entrez Gene: ACD adrenocortical dysplasia homolog (mouse)".
- ^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
External links
- Human ACD genome location and ACD gene details page in the UCSC Genome Browser.
- Human TPP1 genome location and TPP1 gene details page in the UCSC Genome Browser.
Further reading
- de Lange T (2005). "Shelterin: the protein complex that shapes and safeguards human telomeres". Genes Dev. 19 (18): 2100–10. doi:10.1101/gad.1346005. PMID 16166375.
- Songyang Z, Liu D (2006). "Inside the mammalian telomere interactome: regulation and regulatory activities of telomeres". Crit. Rev. Eukaryot. Gene Expr. 16 (2): 103–18. doi:10.1615/critreveukargeneexpr.v16.i2.10. PMID 16749892.
- Cristofari G, Sikora K, Lingner J (2007). "Telomerase unplugged". ACS Chem. Biol. 2 (3): 155–8. doi:10.1021/cb700037c. PMID 17373762.
- Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Houghtaling BR, Cuttonaro L, Chang W, Smith S (2005). "A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2". Curr. Biol. 14 (18): 1621–31. doi:10.1016/j.cub.2004.08.052. PMID 15380063.
- Keegan CE, Hutz JE, Else T, Adamska M, Shah SP, Kent AE, Howes JM, Beamer WG, Hammer GD (2005). "Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator". Hum. Mol. Genet. 14 (1): 113–23. doi:10.1093/hmg/ddi011. PMID 15537664.
- Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE (2006). "IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene". Mol. Genet. Metab. 88 (1): 66–70. doi:10.1016/j.ymgme.2006.01.006. PMID 16504561.
- Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
- O'Connor MS, Safari A, Xin H, Liu D, Songyang Z (2006). "A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly". Proc. Natl. Acad. Sci. U.S.A. 103 (32): 11874–9. doi:10.1073/pnas.0605303103. PMC 1567669. PMID 16880378.
- Xin H, Liu D, Wan M, Safari A, Kim H, Sun W, O'Connor MS, Songyang Z (2007). "TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase". Nature. 445 (7127): 559–62. doi:10.1038/nature05469. PMID 17237767.
- Wang F, Podell ER, Zaug AJ, Yang Y, Baciu P, Cech TR, Lei M (2007). "The POT1-TPP1 telomere complex is a telomerase processivity factor". Nature. 445 (7127): 506–10. doi:10.1038/nature05454. PMID 17237768.
- Wang F, Podell ER, Zaug AJ, Yang Y, Baciu P, Cech TR, Lei M (2007). "The POT1-TPP1 telomere complex is a telomerase processivity factor". Nature. 445 (7127): 506–10. doi:10.1038/nature05454. PMID 17237768.
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