ATXN10
entrez
25814
canonical
uniprot
Q9UBB4
canonical
ensembl
ENSG00000130638
resolver
ensp
ENSP00000252934
resolver
ensp
ENSP00000370449
resolver
ensp
ENSP00000788636
resolver
genesymbol
ATXN10
resolver
genesymbol_syn
SCA10
resolver
hgnc
HGNC:10549
resolver
uniprot
A6NLC4
resolver
uniprot
B4DG05
resolver
uniprot
O14998
resolver
uniprot
O15009
resolver
uniprot
Q6I9X4
resolver
uniprot_entry
ATX10_HUMAN
resolver
uniprot_sec
A6NLC4
resolver
uniprot_sec
B4DG05
resolver
uniprot_sec
O14998
resolver
uniprot_sec
O15009
resolver
uniprot_sec
Q6I9X4
resolver
amino_acid_sequence
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHAVELACRDPSQVENLASSLQLITECFRCLRNACIECSVNQNSIRNLDTIGVAVDLILLFRELRVEQESLLTAFRCGLQFLGNIASRNEDSQSIVWVHAFPELFLSCLNHPDKKIVAYSSMILFTSLNHERMKELEENLNIAIDVIDAYQKHPESEWPFLIITDLFLKSPELVQAMFPKLNNQERVTLLDLMIAKITSDEPLTKDDIPVFLRHAELIASTFVDQCKTVLKLASEEPPDDEEALATIRLLDVLCEMTVNTELLGYLQVFPGLLERVIDLLRVIHVAGKETTNIFSNCGCVRAEGDISNVANGFKSHLIRLIGNLCYKNKDNQDKVNELDGIPLILDNCNISDSNPFLTQWVIYAIRNLTEDNSQNQDLIAKMEEQGLADASLLKKVGFEVEKKGEKLILKSTRDTPKP
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11017075}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy that leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia. {ECO:0000269|PubMed:21565611}.
uniprot
proteins
function
FUNCTION: May play a role in the regulation of cytokinesis (PubMed:21857149, PubMed:25666058). May play a role in signaling by stimulating protein glycosylation. Induces neuritogenesis by activating the Ras-MAP kinase pathway and is necessary for the survival of cerebellar neurons (By similarity). Does not appear to play a major role in ciliogenesis (By similarity). {ECO:0000250|UniProtKB:P28658, ECO:0000250|UniProtKB:Q9ER24, ECO:0000269|PubMed:21857149, ECO:0000269|PubMed:25666058}.
uniprot
proteins
mass_dalton
53489
uniprot
proteins
post_translational_modification
PTM: Polyubiquitinated. {ECO:0000269|PubMed:21857149}.; PTM: Phosphorylation at Ser-12 by AURKB promotes the association of ATXN10 with PLK1 (PubMed:25666058). Phosphorylation at Ser-77 and Thr-82 by PLK1 may play a role in the regulation of cytokinesis and may stimulate the proteasome-mediated degradation of ATXN10 (PubMed:21857149). {ECO:0000269|PubMed:21857149, ECO:0000269|PubMed:25666058}.
uniprot
proteins
protein_family
Ataxin-10 family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11017075
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15201271
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16498633
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21565611
uniprot
proteins
pubmed
21857149
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25666058
uniprot
proteins
sequence_length
475
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:16498633, ECO:0000269|PubMed:25666058}. Midbody {ECO:0000269|PubMed:21857149, ECO:0000269|PubMed:25666058}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:P28658}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:P28658}. Note=Localizes to the midbody during telophase. {ECO:0000269|PubMed:25666058}.
uniprot
proteins