ACD (gene)

From Wikipedia, the free encyclopedia

Adrenocortical dysplasia homolog (mouse)

PDB rendering based on 2i46.

Available structures: 2i46

Identifiers

Symbol(s)

ACD; TPP1; PIP1; PTOP; TINT1

External IDs

OMIM: 609377 MGI: 87873 HomoloGene: 23391

Gene ontology
Molecular Function:	• DNA binding
Cellular Component:	• chromosome, telomeric region • nuclear telomere cap complex • nucleus • chromosome
Biological Process:	• telomere maintenance • skeletal development • urogenital system development • embryonic limb morphogenesis • segmentation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_022914 (mRNA)
NP_075065 (protein)

NM_001012638 (mRNA)
NP_001012656 (protein)

Location

Chr 16: 66.25 - 66.25 Mb

Chr 8: 108.58 - 108.59 Mb

Pubmed search

[1]

[2]

Adrenocortical dysplasia homolog (mouse), also known as ACD, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ACD adrenocortical dysplasia homolog (mouse).

[edit] 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. 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, et al. (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, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353-8. PMID 9110174.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Liu D, Safari A, O'Connor MS, et al. (2004). "PTOP interacts with POT1 and regulates its localization to telomeres.". Nat. Cell Biol. 6 (7): 673-80. doi:10.1038/ncb1142. PMID 15181449.
Ye JZ, Hockemeyer D, Krutchinsky AN, et al. (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. PMID 15231715.
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.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Keegan CE, Hutz JE, Else T, et al. (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.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173-8. doi:10.1038/nature04209. PMID 16189514.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55-65. doi:10.1101/gr.4039406. PMID 16344560.
Hutz JE, Krause AS, Achermann JC, et al. (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, et al. (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, et al. (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. PMID 16880378.
Xin H, Liu D, Wan M, et al. (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.