ATN1

From Wikipedia, the free encyclopedia

Atrophin 1

Identifiers

ATN1; B37; D12S755E; DRPLA; NOD

External IDs

OMIM: 607462 MGI: 104725 HomoloGene: 1461

Gene ontology
Molecular Function:	• transcription corepressor activity • protein binding • toxin receptor binding
Cellular Component:	• nucleus • cytoplasm
Biological Process:	• negative regulation of transcription from RNA polymerase II promoter • central nervous system development • cell death • toxin metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_001007026 (mRNA)
NP_001007027 (protein)

XM_981322 (mRNA)
XP_986416 (protein)

Location

Chr 12: 6.9 - 6.92 Mb

Chr 6: 124.71 - 124.72 Mb

Pubmed search

[1]

[2]

ATN1 is a protein found in nervous tissue.

It is associated with a form of trinucleotide repeat disorder known as "dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy".

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.^[1]

[edit] References

^ Entrez Gene: ATN1 atrophin 1.

[edit] Further reading

Onodera O, Oyake M, Takano H, et al. (1995). "Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS.". Am. J. Hum. Genet. 57 (5): 1050–60. PMID 7485154.
Yazawa I, Nukina N, Hashida H, et al. (1995). "Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain.". Nat. Genet. 10 (1): 99–103. doi:10.1038/ng0595-99. PMID 7647802.
Nagafuchi S, Yanagisawa H, Ohsaki E, et al. (1995). "Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA).". Nat. Genet. 8 (2): 177–82. doi:10.1038/ng1094-177. PMID 7842016.
Burke JR, Wingfield MS, Lewis KE, et al. (1994). "The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.". Nat. Genet. 7 (4): 521–4. doi:10.1038/ng0894-521. PMID 7951323.
Nagafuchi S, Yanagisawa H, Sato K, et al. (1994). "Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.". Nat. Genet. 6 (1): 14–8. doi:10.1038/ng0194-14. PMID 8136826.
Koide R, Ikeuchi T, Onodera O, et al. (1994). "Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).". Nat. Genet. 6 (1): 9–13. doi:10.1038/ng0194-9. PMID 8136840.
Li SH, McInnis MG, Margolis RL, et al. (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, et al. (1996). "A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13.". Genome Res. 6 (4): 314–26. PMID 8723724.
Takano T, Yamanouchi Y, Nagafuchi S, Yamada M (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, et al. (1997). "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats.". Hum. Mol. Genet. 5 (3): 373–9. PMID 8852663.
Margolis RL, Li SH, Young WS, et al. (1996). "DRPLA gene (atrophin-1) sequence and mRNA expression in human brain.". Brain Res. Mol. Brain Res. 36 (2): 219–26. PMID 8965642.
Ansari-Lari MA, Shen Y, Muzny DM, et al. (1997). "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination.". Genome Res. 7 (3): 268–80. PMID 9074930.
Miyashita T, Okamura-Oho Y, Mito Y, et al. (1997). "Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis.". J. Biol. Chem. 272 (46): 29238–42. PMID 9361003.
Wellington CL, Ellerby LM, Hackam AS, et al. (1998). "Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract.". J. Biol. Chem. 273 (15): 9158–67. PMID 9535906.
Wood JD, Yuan J, Margolis RL, et al. (1998). "Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins.". Mol. Cell. Neurosci. 11 (3): 149–60. doi:10.1006/mcne.1998.0677. PMID 9647693.
Hayashi Y, Kakita A, Yamada M, et al. (1999). "Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain.". Acta Neuropathol. 96 (6): 547–52. PMID 9845282.
Takiyama Y, Sakoe K, Amaike M, et al. (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.". Hum. Mol. Genet. 8 (3): 453–7. PMID 9949204.
Okamura-Oho Y, Miyashita T, Ohmi K, Yamada M (1999). "Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate.". Hum. Mol. Genet. 8 (6): 947–57. PMID 10332026.
Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. PMID 10737800.
Yanagisawa H, Bundo M, Miyashita T, et al. (2000). "Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.". Hum. Mol. Genet. 9 (9): 1433–42. PMID 10814707.