ATN1

GENERAL INFORMATION

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Gene name

ATN1

Gene description

Atrophin 1

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Supportive based on 1 antibody.
HPA031619
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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)

6924463 - 6942321

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000111676 (version 78.38)

Entrez gene

1822

UniProt

P54259 (UniProt - Evidence at protein level)

neXtProt

NX_P54259

Antibodypedia

ATN1 antibodies


PROTEIN BROWSER

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ENST00000356654
 
ENST00000396684
 
 
 
 


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