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FLASH GENE

Symbol

ATXN7

contributors: mct/shn - updated : 10-03-2020

HGNC name	ataxin 7
HGNC id	10560

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA7 spinocerebellar ataxia 7
Location	3p14.1      Physical location : 63.850.232 - 63.989.134
Synonym name	spinocerebellar ataxia type 7 protein
Synonym symbol(s)	OPCA3, ADCA2, ATX7, ADCAII

DNA

TYPE	functioning gene
STRUCTURE	138.91 kb     13 Exon(s)

regulatory sequence	Binding site
motif	repetitive sequence
text structure	poly-Gln region highly polymorphic (7 to 17 repeats)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000333 13 - 7242 NP_000324 - 892 - 2010 19843541 also called SCA7a NM_001128149 9 - 6422 NP_001121621 - 747 - 2010 19843541 also called SCA7c NM_001177387 13 - 6866 NP_001170858 - 945 - 2010 19843541 also called SCA7b

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly   pharynx       highly Lymphoid/Immune thymus       highly Nervous brain hindbrain cerebellum       brain limbic system hippocampus     Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	bipartite nuclear localization signal (NLS) consensus sequence
	N terminal CAG polyglutamine region with 4 to 35 repeats in normal alleles
	a proline rich region
	a SCA7 domain characterized by an atypical zinc-finger
	a conserved phosphoprotein interaction motif also found in arrestins
	C-terminal region absolutely required for complete nuclear localization and for CRX transcription interference

HOMOLOGY

interspecies	homolog to C.elegans y119c1bd
	ortholog to yeast Sgf73

Homologene

FAMILY

ataxin 7 family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleolus
text	localizes to the nucleus, and in the cytoplasm, and its expression levels and nuclear to cytoplasmic ratio change dynamically during the cell cycle or morphological transformation
	Ataxin-7 subcellular distribution changes dramatically during the cell cycle

basic FUNCTION	involved in nucleolar function and in transcriptional regulation
	may be playing a role in poly(Q)-mediated histone acetylase depletion
	mediating a direct interaction of STAGA with the CRX (cone-rod homeobox) transactivator of photoreceptor genes
	physiological function of ATXN7 in the regulation of cytoskeletal dynamics
	ATXN7 stabilizes microtubules, having also physiological function in the cytosol
	transcriptional coactivator harboring chromatin remodeling activities, and plays a role in the differentiation of photoreceptors and Purkinje neurons

CELLULAR PROCESS	nucleotide, transcription, regulation
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	nuclear organization-biogenesis

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	with SH3D5 /SH3P12GPS (expressed in Purkinje cells)
	integral component of the mammalian STAGA (PCAF-TAF9-ADA-SUPT3H acetyltransferase) transcription coactivator complex
	subunit of GCN5 histone acetyltransferase-containing complexes

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	MEGF8, LTBP4, CEP72, NOC2L
	RELN is a target of polyglutamine expanded ATXN7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes
	inhibition of KAT2A protein catalytic activity by polyglutamine-expanded ATXN7
	HDAC3 physically interacts with ATXN7, and HDAC3 stabilized ataxin-7 and increased modification of the protein

cell & other

new target for SUMOylation (SUMOylation of lysine 257 in polyQ expanded ATXN7 modulates the aggregation properties and toxicity of the mutant protein, suggesting that this modification plays a role in the pathogenesis of SCA7)

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCA7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deletion of Gcn5 in Purkinje cells in mice expressing wild-type (wt) Atxn7, however, causes only mild ataxia and does not lead to the early lethality observed in SCA7 mice