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Gene Review

ATN1  -  atrophin 1

Homo sapiens

Synonyms: Atrophin-1, B37, D12S755E, DRPLA, Dentatorubral-pallidoluysian atrophy protein, ...
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Disease relevance of ATN1


Psychiatry related information on ATN1


High impact information on ATN1


Chemical compound and disease context of ATN1

  • Furthermore, the immunoliposomes could inhibit the growth of DXR-insensitive stomach cancer cells (B37) in an in vivo model [12].

Biological context of ATN1


Anatomical context of ATN1

  • The discrepancy in the expanded CAG repeat length between cerebellar cortex and other tissues was most prominent in DRPLA, and especially in cases of adult-onset DRPLA [15].
  • In addition, all cases of DRPLA showed a reduction of immunoreactivity for EAAT1 in the dentate nucleus [16].
  • The lesion of Purkinje cells and their processes in the molecular layer associated with altered glutamate transport may be important in DRPLA, while the significance of the abnormalities observed in some MJD cases, which might be related to apoptotic mechanism, remains unclear [16].
  • The expanded CAG repeats of the mRNA were shorter in the cerebellum than in other regions of the central nervous system in DRPLA and MJD, but not in SBMA, and were longer in the liver and colon in MJD [17].
  • In transient cell transfection experiments using a neuroblastoma cell line, full-length atrophin-1 with 26 (normal) or 65 (expanded) glutamines localized to both nucleus and cytoplasm, with no significant difference in toxicity between the normal and mutant proteins [18].

Associations of ATN1 with chemical compounds


Physical interactions of ATN1


Enzymatic interactions of ATN1


Co-localisations of ATN1

  • Moreover, when RERE is overexpressed, the distribution of endogenous DRPLA protein alters from the diffused to the speckled pattern in the nucleus so as to co-localize with RERE [1].

Regulatory relationships of ATN1


Other interactions of ATN1


Analytical, diagnostic and therapeutic context of ATN1


  1. Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine. Yanagisawa, H., Bundo, M., Miyashita, T., Okamura-Oho, Y., Tadokoro, K., Tokunaga, K., Yamada, M. Hum. Mol. Genet. (2000) [Pubmed]
  2. Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. Pujana, M.A., Volpini, V., Gratacós, M., Corral, J., Banchs, I., Sánchez, A., Genís, D., Cervera, C., Estivill, X. J. Med. Genet. (1998) [Pubmed]
  3. The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population. Juvonen, V., Hietala, M., Kairisto, V., Savontaus, M.L. Acta neurologica Scandinavica. (2005) [Pubmed]
  4. Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats. Rubinsztein, D.C., Leggo, J. J. Med. Genet. (1997) [Pubmed]
  5. Role of proteolysis in polyglutamine disorders. Tarlac, V., Storey, E. J. Neurosci. Res. (2003) [Pubmed]
  6. Incidence of genetic subgroups of hereditary spinocerebellar ataxia in Fukushima Prefecture. Kumagai, Y., Sugiura, Y., Shimoji, S., Kumagai, T., Tochikubo, S., Yamamoto, T. Tohoku J. Exp. Med. (2001) [Pubmed]
  7. Triplet repeats in clinical subtypes of schizophrenia: variation at the DRPLA (B 37 CAG repeat) locus is not associated with periodic catatonia. Lesch, K.P., Stöber, G., Balling, U., Franzek, E., Li, S.H., Ross, C.A., Newman, M., Beckmann, H., Riederer, P. J. Neural Transm. Gen. Sect. (1994) [Pubmed]
  8. Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong. Yam, W.K., Wu, N.S., Lo, I.F., Ko, C.H., Yeung, W.L., Lam, S.T. Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine. (2004) [Pubmed]
  9. Drosophila atrophin homolog functions as a transcriptional corepressor in multiple developmental processes. Zhang, S., Xu, L., Lee, J., Xu, T. Cell (2002) [Pubmed]
  10. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Igarashi, S., Koide, R., Shimohata, T., Yamada, M., Hayashi, Y., Takano, H., Date, H., Oyake, M., Sato, T., Sato, A., Egawa, S., Ikeuchi, T., Tanaka, H., Nakano, R., Tanaka, K., Hozumi, I., Inuzuka, T., Takahashi, H., Tsuji, S. Nat. Genet. (1998) [Pubmed]
  11. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Yazawa, I., Nukina, N., Hashida, H., Goto, J., Yamada, M., Kanazawa, I. Nat. Genet. (1995) [Pubmed]
  12. Establishment and evaluation of cancer-specific human monoclonal antibody GAH for targeting chemotherapy using immunoliposomes. Hosokawa, S., Tagawa, T., Niki, H., Hirakawa, Y., Ito, N., Nohga, K., Nagaike, K. Hybrid. Hybridomics (2004) [Pubmed]
  13. Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases. Takiyama, Y., Sakoe, K., Amaike, M., Soutome, M., Ogawa, T., Nakano, I., Nishizawa, M. Hum. Mol. Genet. (1999) [Pubmed]
  14. Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate. Okamura-Oho, Y., Miyashita, T., Ohmi, K., Yamada, M. Hum. Mol. Genet. (1999) [Pubmed]
  15. Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1. Hashida, H., Goto, J., Kurisaki, H., Mizusawa, H., Kanazawa, I. Ann. Neurol. (1997) [Pubmed]
  16. Cerebellar degeneration in hereditary dentatorubral-pallidoluysian atrophy and Machado-Joseph disease. Kumada, S., Hayashi, M., Mizuguchi, M., Nakano, I., Morimatsu, Y., Oda, M. Acta Neuropathol. (2000) [Pubmed]
  17. Somatic mosaicism of the expanded CAG trinucleotide repeat in mRNAs for the responsible gene of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinal and bulbar muscular atrophy (SBMA). Ito, Y., Tanaka, F., Yamamoto, M., Doyu, M., Nagamatsu, M., Riku, S., Mitsuma, T., Sobue, G. Neurochem. Res. (1998) [Pubmed]
  18. Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity. Nucifora, F.C., Ellerby, L.M., Wellington, C.L., Wood, J.D., Herring, W.J., Sawa, A., Hayden, M.R., Dawson, V.L., Dawson, T.M., Ross, C.A. J. Biol. Chem. (2003) [Pubmed]
  19. Novel micro-RNAs and intermediates of micro-RNA biogenesis from moss. Talmor-Neiman, M., Stav, R., Frank, W., Voss, B., Arazi, T. Plant J. (2006) [Pubmed]
  20. Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. Onodera, O., Oyake, M., Takano, H., Ikeuchi, T., Igarashi, S., Tsuji, S. Am. J. Hum. Genet. (1995) [Pubmed]
  21. Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinase. Okamura-Oho, Y., Miyashita, T., Nagao, K., Shima, S., Ogata, Y., Katada, T., Nishina, H., Yamada, M. Hum. Mol. Genet. (2003) [Pubmed]
  22. Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Burke, J.R., Enghild, J.J., Martin, M.E., Jou, Y.S., Myers, R.M., Roses, A.D., Vance, J.M., Strittmatter, W.J. Nat. Med. (1996) [Pubmed]
  23. Selective colocalization of transglutaminase-like activity in ubiquitinated intranuclear inclusions of hereditary dentatorubral-pallidoluysian atrophy. Sato, K., Murakami, T., Hamakawa, Y., Kamada, H., Nagano, I., Shoji, M., Takata, H., Nobukuni, K., Ihara, Y., Namba, R., Hayabara, T., Hirose, S., Abe, K. Brain Res. (2002) [Pubmed]
  24. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings. Koide, R., Onodera, O., Ikeuchi, T., Kondo, R., Tanaka, H., Tokiguchi, S., Tomoda, A., Miike, T., Isa, F., Beppu, H., Shimizu, N., Watanabe, Y., Horikawa, Y., Shimohata, T., Hirota, K., Ishikawa, A., Tsuji, S. Neurology (1997) [Pubmed]
  25. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy. Sakai, T., Antoku, Y., Kawakami, H., Maruyama, H., Nakamura, S., Tanaka, K. Neurology (1996) [Pubmed]
  26. A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. Yanagisawa, H., Fujii, K., Nagafuchi, S., Nakahori, Y., Nakagome, Y., Akane, A., Nakamura, M., Sano, A., Komure, O., Kondo, I., Jin, D.K., Sørensen, S.A., Potter, N.T., Young, S.R., Nakamura, K., Nukina, N., Nagao, Y., Tadokoro, K., Okuyama, T., Miyashita, T., Inoue, T., Kanazawa, I., Yamada, M. Hum. Mol. Genet. (1996) [Pubmed]
  27. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Miyoshi, Y., Yamada, T., Tanimura, M., Taniwaki, T., Arakawa, K., Ohyagi, Y., Furuya, H., Yamamoto, K., Sakai, K., Sasazuki, T., Kira, J. Neurology (2001) [Pubmed]
  28. Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy. Ito, D., Yamada, M., Kawai, M., Usui, T., Hamada, J., Fukuuchi, Y. Arch. Neurol. (2002) [Pubmed]
  29. Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization. Takano, T., Yamanouchi, Y., Nagafuchi, S., Yamada, M. Genomics (1996) [Pubmed]
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