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ATXN7

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GENERAL INFORMATION

Gene name

 ATXN7

Gene description

 Ataxin 7

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the cytosol & nucleoplasm.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoplasm (supported), Cytosol (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA034989
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the cytosol & nucleoplasm.

Main location

 Nucleoplasm (supported), Cytosol (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA034989 A-431 Nucleoplasm
Cytosol
HPA034989 U-2 OS Nucleoplasm
Cytosol
HPA034989 U-251 MG Nucleoplasm
Cytosol

GENE INFORMATION

Gene name

 ATXN7 (HGNC Symbol)

Synonyms

 ADCAII, OPCA3, SCA7

Description

 Ataxin 7 (HGNC Symbol)

Entrez gene summary

 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

Chromosome

 3

Cytoband

 p14.1

Chromosome location (bp)

 63864557 - 64003462

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000163635 (version 83.38)

Entrez gene

 6314

UniProt

 O15265 (UniProt - Evidence at protein level)

neXtProt

 NX_O15265

Antibodypedia

 ATXN7 antibodies

PROTEIN BROWSER
ATXN7-001
ATXN7-002
ATXN7-004
ATXN7-006
ATXN7-013
ATXN7-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ATXN7-001
ENSP00000295900
ENST00000295900
O15265 [Direct mapping]
Ataxin-7
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006997 [nucleus organization]
GO:0007601 [visual perception]
GO:0015630 [microtubule cytoskeleton]
GO:0016363 [nuclear matrix]
GO:0016578 [histone deubiquitination]
GO:0030914 [STAGA complex]
Show all
 892 aa
95.5 kDa 		No 0
ATXN7-002
ENSP00000418203
ENST00000474513
Q9UPD8 [Direct mapping]
Ataxin-7
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 26 aa
2.5 kDa 		No 0
ATXN7-004
ENSP00000420234
ENST00000487717
O15265 [Direct mapping]
Ataxin-7
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006997 [nucleus organization]
GO:0007601 [visual perception]
GO:0015630 [microtubule cytoskeleton]
GO:0016363 [nuclear matrix]
GO:0016578 [histone deubiquitination]
GO:0030914 [STAGA complex]
Show all
 892 aa
95.5 kDa 		No 0
ATXN7-006
ENSP00000428277
ENST00000484332
O15265 [Direct mapping]
Ataxin-7
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:0000226 [microtubule cytoskeleton organization]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006997 [nucleus organization]
GO:0007601 [visual perception]
GO:0015630 [microtubule cytoskeleton]
GO:0016363 [nuclear matrix]
GO:0016578 [histone deubiquitination]
GO:0030914 [STAGA complex]
Show all
 747 aa
79.5 kDa 		No 0
ATXN7-013
ENSP00000428067
ENST00000522345
H0YAT6 [Direct mapping]
Ataxin-7
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0030914 [STAGA complex]
Show all
 115 aa
12.2 kDa 		No 0
ATXN7-201
ENSP00000439585
ENST00000538065
O15265 [Direct mapping]
Ataxin-7
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0003682 [chromatin binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0006997 [nucleus organization]
GO:0007601 [visual perception]
GO:0015630 [microtubule cytoskeleton]
GO:0016363 [nuclear matrix]
GO:0016578 [histone deubiquitination]
GO:0030914 [STAGA complex]
GO:0042326 [negative regulation of phosphorylation]
GO:0043569 [negative regulation of insulin-like growth factor receptor signaling pathway]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 945 aa
101.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.