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ataxin-1; spinocerebellar ataxia type 1 protein (ATXN1, ATX1, SCA1)
Function:
- unknown
- interacts with LANP
- phosphorylated on Ser-776 by ATK kinase
- interaction with 14-3-3 dependent of Ser-776 phorphorylation
- binds RNA in vitro
- may be involved in RNA metabolism
- expansion of the polyglutamine tract (CAG repeat) may alter this function
- interacts with CIC (putative)
- interacts with ANP32A, PQBP1, UBIN, ATXN1L, USP7 & ZNF804A
Structure:
- the AXH domain is required for interaction with CIC
- belongs to the ATXN1 family
- contains 1 AXH domain
Compartment:
- cytoplasm (putative), nucleus
- colocalizes with USP7 in the nucleus
- self-association seems to be necessary to form nuclear aggregates
Alternative splicing:
- named isoforms=1
- at least 2 isoforms are produced
Expression:
- widely expressed throughout the body
Polymorphism:
- the poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal population & is expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1)
- longer expansions result in earlier onset & more severe clinical manifestations of disease
Pathology:
- CAG trinucleotide repeat expansion in SCA1 gene encoding ataxin-1 in spinocerebellar ataxia type 1
Related
SCA1 gene
General
ataxin
phosphoprotein
Properties
SIZE: entity length = 815 aa
MW = 87 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: glutamine-rich region {197-225}
MOTIF: glutamine residue (SEVERAL)
Ser phosphorylation site {S238}
Ser phosphorylation site {S253}
Self-association {494-604}
USP7 interaction {538-815}
MOTIF: binding site
SITE: 540-766
FOR-BINDING-OF: ribonucleic acid
AXH {562-693}
nuclear translocation signal {794-797}
Database Correlations
OMIM correlations
UniProt P54253
PFAM correlations
Entrez Gene 6310
Kegg hsa:6310
References
- UniProt :accession P54253
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ATXN1
- Wikipedia; Note: ataxin-1 entry
http://en.wikipedia.org/wiki/ataxin_1