Property Summary

NCBI Gene PubMed Count 43
PubMed Score 57.94
PubTator Score 59.95

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
Multiple myeloma 1.348 7.5e-03
tuberculosis 1.200 3.7e-05
intraductal papillary-mucinous adenoma (... -1.200 3.4e-04
intraductal papillary-mucinous neoplasm ... -1.300 9.4e-03
lung cancer 1.200 3.7e-03
breast carcinoma 1.100 2.9e-03
ovarian cancer -1.900 1.4e-08

Gene RIF (23)

PMID Text
26295943 Single molecule real time sequencing of long tandem nucleotide repeats in spinocerebellar ataxia ATXN10 reveals unique insight of repeat expansion structure in three unrelated patients.
26039897 Data suggest precursor mRNA for SCA10 (crystalized using two model AUUCU SCA10 repeats) exhibits the following conformation: the two asymmetric RNA molecules are antiparallel to each other and the interaction is stabilized by multiple hydrogen bonds.
25666058 Inhibition of Aurora B or expression of the S12A mutant renders reduced interaction between Ataxin-10 and polo-like kinase 1 (Plk1), a kinase previously identified to regulate Ataxin-10 in cytokinesis.
25630585 This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype.
24318420 the presence of repeat interruptions in SCA10 repeat expansion may have a role in epilepsy phenotype
23026538 The SCA10 pentanucleotide repeat expansion was not found among a group of Cypriot ataxia patients. All had 10-19 ATTCT repeats. Controls had 11-20 repeats, with 14 being the most common number.
22190034 HIV-1 Vpu is identified to have a physical interaction with ataxin 10 (ATXN10) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21857149 Plk1 phosphorylates Ataxin-10 on Ser 77 and Thr 82.
21827910 The expansion of the attct repeat in intron 9 of atxn10 is may caused Spinocerebellar ataxia type 10.
21565611 Network building strategy led to the proposal of candidates for new ciliopathy disease genes, leading to the identification of the first human mutations in the Nephronophthisis gene Ataxin10 (ATXN10) and Joubert syndrome gene Tectonic2 (TCTN2).
20548952 suggesting that the loss of function of hnRNP K plays a key role in cell death of SCA10.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19936807 Data suggest that SCA10 could be related to chromatin structure abnormalities caused by the expansion and not to an abnormal or abnormally expressed ATXN10.
19835171 Ataxin 10 and eukaryotic initiation factors interacts with M2 protein of influenza A virus.
19259763 Observational study of gene-disease association. (HuGE Navigator)
19234597 evidence for an ancestral common origin for SCA10 in Latin America, which might have arisen in an ancestral Amerindian population and later have been spread into the mixed populations of Mexico and Brazil.
19171184 Nucleosome formation on pure and interrupted ATTCT pentanucleotides associated with spinocerebellar ataxia type 10 (SCA10), is reported.
19147916 The normal reference standard for ATXN10 gene's ATTCT pentanucleotide repeat of 9-32 is verified in the Chinese Han group.
18386626 cause Spinocerebellar ataxia type 10 by expansion of the ATTCT pentanucleotide repeat in intron 9 of the gene
17846122 These results implicate replication origin activity as one molecular mechanism associated with the instability of ataxin 10(ATTCT)n tracts that are longer than normal length.
16385455 Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10 suggest that the purity of the expanded repeat element may be a disease modifier.
15148151 Observational study of genotype prevalence. (HuGE Navigator)
11891842 frequency of SCA10 in spinocerebellar ataxia in France

AA Sequence

MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHAVELACRDPSQ      1 - 70
VENLASSLQLITECFRCLRNACIECSVNQNSIRNLDTIGVAVDLILLFRELRVEQESLLTAFRCGLQFLG     71 - 140
NIASRNEDSQSIVWVHAFPELFLSCLNHPDKKIVAYSSMILFTSLNHERMKELEENLNIAIDVIDAYQKH    141 - 210
PESEWPFLIITDLFLKSPELVQAMFPKLNNQERVTLLDLMIAKITSDEPLTKDDIPVFLRHAELIASTFV    211 - 280
DQCKTVLKLASEEPPDDEEALATIRLLDVLCEMTVNTELLGYLQVFPGLLERVIDLLRVIHVAGKETTNI    281 - 350
FSNCGCVRAEGDISNVANGFKSHLIRLIGNLCYKNKDNQDKVNELDGIPLILDNCNISDSNPFLTQWVIY    351 - 420
AIRNLTEDNSQNQDLIAKMEEQGLADASLLKKVGFEVEKKGEKLILKSTRDTPKP                   421 - 475
//

Text Mined References (46)

PMID Year Title
26295943 2015 SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.
26039897 2015 Crystallographic and Computational Analyses of AUUCU Repeating RNA That Causes Spinocerebellar Ataxia Type 10 (SCA10).
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25666058 2015 Aurora B-dependent phosphorylation of Ataxin-10 promotes the interaction between Ataxin-10 and Plk1 in cytokinesis.
25630585 2015 Bolivian kindred with combined spinocerebellar ataxia types 2 and 10.
24318420 2014 Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23580065 2013 Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23026538 2012 Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations.
21857149 2011 Phosphorylation of Ataxin-10 by polo-like kinase 1 is required for cytokinesis.
21827910 2012 Spinocerebellar ataxia type 10.
21565611 2011 Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
21269460 2011 Initial characterization of the human central proteome.
20548952 2010 Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19946888 2010 Defining the membrane proteome of NK cells.
19936807 2010 Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.
19835171 2009 [Screening cellular proteins interacted with M2 protein of influenza A virus by coimmunoprecipitation].
19259763 2009 The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.
19234597 2009 Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).
19171184 2009 The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions.
19147916 2008 Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han.
18386626 2008 [Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)].
17846122 2007 Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16498633 2006 Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit.
16385455 2006 Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
15201271 2004 Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons.
15148151 2004 Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
15127363 2004 Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12235814 2001 [Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion].
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11017075 2000 Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
10931946 2000 Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.
10591208 1999 The DNA sequence of human chromosome 22.
9973298 1999 Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.
9818872 1998 Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia.
8421960 1993 Clinical features and classification of inherited ataxias.