ATN1

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Atrophin 1
Identifiers
Symbols ATN1 ; B37; D12S755E; DRPLA; HRS; NOD
External IDs OMIM607462 MGI104725 HomoloGene1461 GeneCards: ATN1 Gene
RNA expression pattern
PBB GE ATN1 40489 at tn.png
PBB GE ATN1 208871 at tn.png
PBB GE ATN1 211076 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1822 13498
Ensembl ENSG00000111676 ENSMUSG00000004263
UniProt P54259 O35126
RefSeq (mRNA) NM_001007026 NM_007881
RefSeq (protein) NP_001007027 NP_031907
Location (UCSC) Chr 12:
7.03 – 7.05 Mb
Chr 6:
124.74 – 124.76 Mb
PubMed search [1] [2]

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

Function[edit]

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]

Clinical significance[edit]

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

Interactions[edit]

ATN1 has been shown to interact with:

References[edit]

  1. ^ "Entrez Gene: ATN1 atrophin 1". 
  2. ^ Okamura-Oho Y, Miyashita T, Ohmi K, Yamada M (June 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. 
  3. ^ a b c Wood JD, Yuan J, Margolis RL, Colomer V, Duan K, Kushi J, Kaminsky Z, Kleiderlein JJ, Sharp AH, Ross CA (June 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. 
  4. ^ 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". Hum. Mol. Genet. 9 (9): 1433–42. PMID 10814707. 

Further reading[edit]

External links[edit]