Cell atlas - ATN1 - The Human Protein Atlas

GENERAL INFORMATION
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
Summary	Localized to the nucleoplasm.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (validated)
siRNA	The location(s) are Validated based on siRNA mediated gene silencing.

DATA RELIABILITY
Reliability score	Validated based on 1 antibody. HPA031619
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ASSAYS

RNA expression

Human cells

siRNA

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the nucleoplasm.

Main location

Nucleoplasm (validated)


	Toggle channels	Low High G1 S G2 M N/A

Antibody	Cell line	Location
HPA031619	A-431	Nucleoplasm
HPA031619	U-2 OS	Nucleoplasm
HPA031619	U-251 MG	Nucleoplasm

siRNA VALIDATION

Relative fluorescence intensity (RFI)

Antibody

HPA031619

siRNA validation

Validated: Significant downregulation > 25% by one siRNA.

Analysis performed in

Nuclear region of segmented cells in 10x-images

siRNA 1

RFI

51%

p-value

< 0.01


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail 10x	Thumbnail 40x	Antibody	Sample	Cell line
		HPA031619	siRNA 1	U-2 OS
		HPA031619	scrambled	U-2 OS

GENE INFORMATION
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 83.38)
Entrez gene	1822
UniProt	P54259 (UniProt - Evidence at protein level)
neXtProt	NX_P54259
Antibodypedia	ATN1 antibodies

PROTEIN BROWSER

ATN1-001	ATN1-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ATN1-001 ENSP00000379915 ENST00000396684	P54259 [Direct mapping] Atrophin-1 Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0007417 [central nervous system development] GO:0016363 [nuclear matrix] GO:0019904 [protein domain specific binding] GO:0030054 [cell junction] GO:0048471 [perinuclear region of cytoplasm] GO:0051402 [neuron apoptotic process] Show all	1190 aa 125.4 kDa	No	0
ATN1-002 ENSP00000349076 ENST00000356654	P54259 [Direct mapping] Atrophin-1 Show all	Predicted intracellular proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0007417 [central nervous system development] GO:0016363 [nuclear matrix] GO:0019904 [protein domain specific binding] GO:0030054 [cell junction] GO:0048471 [perinuclear region of cytoplasm] GO:0051402 [neuron apoptotic process] Show all	1190 aa 125.4 kDa	No	0