ATN1

GENE INFORMATION

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Gene name

ATN1 (HGNC Symbol)

Synonyms

B37, D12S755E, DRPLA

Description

Atrophin 1 (HGNC Symbol)

Entrez gene summary

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) 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. [provided by RefSeq, Feb 2010]

Chromosome

12

Cytoband

p13.31

Chromosome location (bp)

7033626 - 7051484

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000111676 (version 75.37)

Entrez gene

1822

UniProt

P54259 (UniProt - Evidence at protein level)

neXtProt

NX_P54259

Antibodypedia

ATN1 antibodies
 

PROTEIN VIEW

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ATN1-001
 
ATN1-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATN1-001 ENSP00000379915
ENST00000396684
P54259
Show all »
Show » Show » 1190 125.4 No 0
ATN1-002 ENSP00000349076
ENST00000356654
P54259
Show all »
Show » Show » 1190 125.4 No 0