InnateDB Protein
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IDBP-11672.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ATXN10
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Protein Name
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ataxin 10
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Synonyms
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E46L; HUMEEP; SCA10;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000252934
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InnateDB Gene
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IDBG-11670 (ATXN10)
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Protein Structure
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Function |
Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis. {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, perinuclear region {ECO:0000269PubMed:16498633}.
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Disease Associations |
Spinocerebellar ataxia 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). {ECO:0000269PubMed:11017075}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.
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Tissue Specificity |
Expressed in the central nervous system. {ECO:0000269PubMed:15201271}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
22
[view]
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Protein-Protein |
22
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR016024
Armadillo-type fold
IPR019156
Ataxin-10 domain
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PFAM |
PF09759
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UBB4
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PhosphoSite |
PhosphoSite-Q9UBB4
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TrEMBL |
Q9NTC6
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UniProt Splice Variant |
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Entrez Gene |
25814
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UniGene |
Hs.736820
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RefSeq |
NP_037368
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HUGO |
HGNC:10549
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OMIM |
611150
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CCDS |
CCDS14070
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HPRD |
04624
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IMGT |
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EMBL |
AF119662
AK294348
AL050282
AL137374
BC007508
CR456568
CR457381
Z84478
Z93784
Z95331
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GenPept |
AAF17219
AAH07508
BAG57616
CAB43383
CAB70715
CAG30454
CAG33662
CAI20373
CAI20419
CAI41716
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