ATN1

ATN1
Identifiers
Aliases ATN1, B37, D12S755E, DRPLA, HRS, NOD, atrophin 1
External IDs OMIM: 607462 MGI: 104725 HomoloGene: 1461 GeneCards: ATN1
RNA expression pattern




More reference expression data
Orthologs
Species Human Mouse
Entrez

1822

13498

Ensembl

ENSG00000111676

ENSMUSG00000004263

UniProt

P54259

O35126

RefSeq (mRNA)

NM_001940
NM_001007026

NM_007881

RefSeq (protein)

NP_001007027.1
NP_001931.2

NP_031907.2

Location (UCSC) Chr 12: 6.92 – 6.94 Mb Chr 6: 124.74 – 124.76 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Atrophin-1 is a protein that in humans is encoded by the ATN1 gene. It is expressed in nervous tissue.

Function

Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion of a trinucleotide repeat within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein.[3]

Clinical significance

Mutations in ATN1 are associated with a form of trinucleotide repeat disorder known as "dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy".

Interactions

ATN1 has been shown to interact with:

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ "Entrez Gene: ATN1 atrophin 1".
  4. ↑ Okamura-Oho Y, Miyashita T, Ohmi K, Yamada M (Jun 1999). "Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate". Human Molecular Genetics. 8 (6): 947–57. doi:10.1093/hmg/8.6.947. PMID 10332026.
  5. 1 2 3 Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kushi J, Kaminsky Z, Kleiderlein JJ, Sharp AH, Ross CA (Jun 1998). "Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins". Molecular and Cellular Neurosciences. 11 (3): 149–60. doi:10.1006/mcne.1998.0677. PMID 9647693.
  6. ↑ Yanagisawa H, Bundo M, Miyashita T, Okamura-Oho Y, Tadokoro K, Tokunaga K, Yamada M (May 2000). "Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine". Human Molecular Genetics. 9 (9): 1433–42. doi:10.1093/hmg/9.9.1433. PMID 10814707.

Further reading

  • Wang L, Rajan H, Pitman JL, McKeown M, Tsai CC (Mar 2006). "Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressors". Genes & Development. 20 (5): 525–30. doi:10.1101/gad.1393506. PMC 1410805Freely accessible. PMID 16481466. 
  • Onodera O, Oyake M, Takano H, Ikeuchi T, Igarashi S, Tsuji S (Nov 1995). "Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS". American Journal of Human Genetics. 57 (5): 1050–60. PMC 1801383Freely accessible. PMID 7485154. 
  • Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I (May 1995). "Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain". Nature Genetics. 10 (1): 99–103. doi:10.1038/ng0595-99. PMID 7647802. 
  • Nagafuchi S, Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, Inoue T, Yamada M (Oct 1994). "Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)". Nature Genetics. 8 (2): 177–82. doi:10.1038/ng1094-177. PMID 7842016. 
  • Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM (Aug 1994). "The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family". Nature Genetics. 7 (4): 521–4. doi:10.1038/ng0894-521. PMID 7951323. 
  • Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N (Jan 1994). "Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p". Nature Genetics. 6 (1): 14–8. doi:10.1038/ng0194-14. PMID 8136826. 
  • Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T (Jan 1994). "Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)". Nature Genetics. 6 (1): 9–13. doi:10.1038/ng0194-9. PMID 8136840. 
  • Li SH, McInnis MG, Margolis RL, Antonarakis SE, Ross CA (Jun 1993). "Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms". Genomics. 16 (3): 572–9. doi:10.1006/geno.1993.1232. PMID 8325628. 
  • Ansari-Lari MA, Muzny DM, Lu J, Lu F, Lilley CE, Spanos S, Malley T, Gibbs RA (Apr 1996). "A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13". Genome Research. 6 (4): 314–26. doi:10.1101/gr.6.4.314. PMID 8723724. 
  • Takano T, Yamanouchi Y, Nagafuchi S, Yamada M (Feb 1996). "Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization". Genomics. 32 (1): 171–2. doi:10.1006/geno.1996.0100. PMID 8786114. 
  • Yanagisawa H, Fujii K, Nagafuchi S, Nakahori Y, Nakagome Y, Akane A, Nakamura M, Sano A, Komure O, Kondo I, Jin DK, Sørensen SA, Potter NT, Young SR, Nakamura K, Nukina N, Nagao Y, Tadokoro K, Okuyama T, Miyashita T, Inoue T, Kanazawa I, Yamada M (Mar 1996). "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats". Human Molecular Genetics. 5 (3): 373–9. doi:10.1093/hmg/5.3.373. PMID 8852663. 
  • Margolis RL, Li SH, Young WS, Wagster MV, Stine OC, Kidwai AS, Ashworth RG, Ross CA (Mar 1996). "DRPLA gene (atrophin-1) sequence and mRNA expression in human brain". Brain Research. Molecular Brain Research. 36 (2): 219–26. doi:10.1016/0169-328X(95)00241-J. PMID 8965642. 
  • Ansari-Lari MA, Shen Y, Muzny DM, Lee W, Gibbs RA (Mar 1997). "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination". Genome Research. 7 (3): 268–80. doi:10.1101/gr.7.3.268. PMID 9074930. 
  • Miyashita T, Okamura-Oho Y, Mito Y, Nagafuchi S, Yamada M (Nov 1997). "Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis". The Journal of Biological Chemistry. 272 (46): 29238–42. doi:10.1074/jbc.272.46.29238. PMID 9361003. 
  • Wellington CL, Ellerby LM, Hackam AS, Margolis RL, Trifiro MA, Singaraja R, McCutcheon K, Salvesen GS, Propp SS, Bromm M, Rowland KJ, Zhang T, Rasper D, Roy S, Thornberry N, Pinsky L, Kakizuka A, Ross CA, Nicholson DW, Bredesen DE, Hayden MR (Apr 1998). "Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract". The Journal of Biological Chemistry. 273 (15): 9158–67. doi:10.1074/jbc.273.15.9158. PMID 9535906. 
  • Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kushi J, Kaminsky Z, Kleiderlein JJ, Sharp AH, Ross CA (Jun 1998). "Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins". Molecular and Cellular Neurosciences. 11 (3): 149–60. doi:10.1006/mcne.1998.0677. PMID 9647693. 
  • Hayashi Y, Kakita A, Yamada M, Koide R, Igarashi S, Takano H, Ikeuchi T, Wakabayashi K, Egawa S, Tsuji S, Takahashi H (Dec 1998). "Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain". Acta Neuropathologica. 96 (6): 547–52. doi:10.1007/s004010050933. PMID 9845282. 
  • Takiyama Y, Sakoe K, Amaike M, Soutome M, Ogawa T, Nakano I, Nishizawa M (Mar 1999). "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". Human Molecular Genetics. 8 (3): 453–7. doi:10.1093/hmg/8.3.453. PMID 9949204. 
  • Okamura-Oho Y, Miyashita T, Ohmi K, Yamada M (Jun 1999). "Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate". Human Molecular Genetics. 8 (6): 947–57. doi:10.1093/hmg/8.6.947. PMID 10332026. 
  • Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (Mar 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267Freely accessible. PMID 10737800. 
  • Yanagisawa H, Bundo M, Miyashita T, Okamura-Oho Y, Tadokoro K, Tokunaga K, Yamada M (May 2000). "Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine". Human Molecular Genetics. 9 (9): 1433–42. doi:10.1093/hmg/9.9.1433. PMID 10814707. 

External links

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