ID:ATX10_HUMAN DESCRIPTION: RecName: Full=Ataxin-10; AltName: Full=Brain protein E46 homolog; AltName: Full=Spinocerebellar ataxia type 10 protein; FUNCTION: Necessary for the survival of cerebellar neurons (By similarity). Induces neuritogenesis by activating the Ras-MAP kinase pathway (By similarity). May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis (By similarity). SUBUNIT: Homooligomer (By similarity). Interacts with OGT (By similarity). Interacts with GNB2. Interacts with IQCB1. SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. TISSUE SPECIFICITY: Expressed in the central nervous system. DISEASE: Defects in ATXN10 are the cause of spinocerebellar ataxia type 10 (SCA10) [MIM:603516]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar ataxia (ADCA). DISEASE: Note=Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy taht leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia. SIMILARITY: Belongs to the ataxin-10 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN10";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF09759 - Spinocerebellar ataxia type 10 protein domain
SCOP Domains: 48371 - ARM repeat 100909 - IP3 receptor type 1 binding core, domain 2
ModBase Predicted Comparative 3D Structure on Q9UBB4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007399 nervous system development GO:0031175 neuron projection development GO:0060271 cilium assembly GO:0070207 protein homotrimerization
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
