Property Summary

NCBI Gene PubMed Count 74
PubMed Score 225.60
PubTator Score 230.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
Rheumatoid Arthritis 1.500 1.5e-02
astrocytic glioma 1.300 2.4e-02
oligodendroglioma 1.400 2.1e-03
osteosarcoma 1.517 4.2e-04
atypical teratoid / rhabdoid tumor -1.100 6.7e-05
glioblastoma -1.200 4.7e-05
pancreatic ductal adenocarcinoma liver m... 1.055 5.4e-03
non-small cell lung cancer -1.126 6.5e-17
intraductal papillary-mucinous adenoma (... 1.100 1.6e-02
lung cancer -1.300 2.1e-03
group 3 medulloblastoma 1.900 2.2e-03
spina bifida -1.540 4.7e-02
Pick disease 1.100 8.9e-07
Breast cancer -1.300 8.0e-15
ovarian cancer -1.700 7.0e-05
dermatomyositis 1.300 7.1e-04

 GO Function (1)

Gene RIF (52)

PMID Text
26210447 Two pathological polyglutamine proteins, truncated Ataxin-7 and full-length Ataxin-3, suggest that accumulation of insoluble aggregates beyond a critical threshold could be responsible for neurotoxicity.
26195632 Data show that the aggregates formed by polyQ-expanded ataxin 7 sequester ubiquitin-specific protease (USP22) through specific interactions.
25900954 Our study provided the clinico-genetic analysis of nine Indian SCA7 families and CAG repeat distribution analysis in diverse Indian populations showed occurrence of ATXN7-CAG intermediate alleles in a predisposed population
25869926 South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes
25755283 Results suggest that sequestration of both enzymatic centers in SAGA upon ATXN7 poly(Q) expansion likely contributes to spinocerebellar ataxia type 7 development and progression.
25643591 The proband exhibited a typical phenotype of SCA7, which includes cone dystrophy and spinocerebellar ataxia.
24859968 This study shown evidence in vivo, in the SCA7 KI mouse model, that progressive accumulation of mutant ataxin-7 impairs autophagy.
24374739 analysis of the founder effect and ancestral origin of the spinocerebellar ataxia type 7 mutation in Mexican families
24129567 polyQ-expanded ataxin-7 directly bound the Gcn5 catalytic core of SAGA while in association with its regulatory proteins, Ada2 and Ada3.
23892081 Sequestration of the ponsin splice variant R85FL by the polyglutamine-expanded Atx7 in cell is mediated by the specific SH3C-PRR interaction, which is implicated in the pathogenesis of spinocerebellar ataxia 7.
23828024 Haplotype and phylogenetic analyses provide evidence showing that the relatively high frequency of SCA7 in Mexican population is the result of a founder mutation and that Mexican SCA7 carriers possess the Western European ancestry.
23368522 Epidemiological evidence of a SCA7 founder effect in a Mexican population with spinocerebellar ataxia.
23236151 Polyglutamine expansion decreased ATXN7 occupancy, which correlated with increased levels of histone H2B monoubiquitination, at the reelin promoter.
23226359 role of ataxin-7 in differentiation of photoreceptors and cerebellar neurons
23100044 The results demonstrated that a common genetic variant in the ataxia-causing gene ATXN7 influences cerebellar grey matter volume in healthy young adults.
22917585 Critical nuclear events lead to transcriptional alterations in polyglutamine diseases such as spinocerebellar ataxia type 7 (SCA7) and Huntington's disease (HD).
22827889 The results of this study demonstrated that oxidative stress contributes to ATXN7 aggregation as well as toxicity.
22367614 Full-length and cleaved fragments of the SCA7 disease protein ataxin-7 (ATXN7) are differentially degraded in a spinocerebellar ataxia type 7 rat model.
22100762 ATXN7 distribution frequently shifts from the nucleus to the cytoplasm; cytoplasmic ATXN7 associates with microtubules (MTs); expression of ATXN7 stabilizes MTs; findings provide a novel physiological function of ATXN7 in regulation of cytoskeletal dynamics and suggest that abnormal cytoskeletal regulation may contribute to SCA7 disease pathology
22072678 The results of this study indicated that SCA7 disease pathogenesis involves a convergence of alterations in a variety of different cell types to fully recapitulate the cerebellar degeneration.
21827908 The Trinucleotide Repeat Expansion mutation in ATXN7 related to Spinocerebellar ataxia type 7.
21078624 identified 118 protein interactions for CACNA1A and ATXN7 linking them to other ataxia-causing proteins and the ataxia network; ataxia network is significantly enriched for proteins that interact with known macular degeneration-causing proteins
20739808 This study suggested that the SCA7 gene alternation in SCA7 patient in Chinese Han family.
20732423 The interaction between APLP2 and ataxin-7 and proteolytic processing of APLP2 may contribute to the pathogenesis of spinocerebellar ataxia type 7.
20634802 The solution structures of the SCA7 domain of both ATXN7 and ATXN7L3 reveal a new, common zinc-finger motif at the heart of two distinct folds, providing a molecular basis for the observed functional differences.
20600911 In response to polyglutamine toxicity, transgenic murine SCA7 rods go through a range of radically different cell fates correlating with the nature, level and ratio of mutant transgene ATXN7 species.
20069235 Observational study of gene-disease association. (HuGE Navigator)
19843541 These results demonstrate an influence of SUMOylation on the multistep aggregation process of ATXN7 and implicate a role for ATXN7 SUMOylation in SCA7 pathogenesis.
19789634 analysis of RNA hairpins selective for silencing the mutant ataxin-7 transcript
19259763 Observational study of gene-disease association. (HuGE Navigator)
19235102 Observational study of gene-disease association. (HuGE Navigator)
19172503 The patients with genetically confirmed SCA 7 presented an early macular dysfunction, preceding any signs of abnormalities in fundus appearance
18325672 expanded CAG-repeats in the SCA7 gene within members of a large Chinese family with spinocerebellar ataxia
18216249 One common pathogenic response in transgenic SCA1 and SCA7 mice reveals the importance of intercellular mechanisms in the pathogenesis of spinocerebellar ataxias.
18182848 Observational study of gene-disease association. (HuGE Navigator)
17720198 We present a pediatric patient with 13 and 70 trinucleotide CAG repeats within SCA7 gene and no family history, whose presentation mimicked Kearns-Sayre syndrome (KSS).
17254003 Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal failure.
17026624 Origin of the SCA7 gene mutation in South Africa and the possibility of a founder effect in the Black population
16962040 Trinucleotide repeat expansions of ataxin 7 may be involved in neurodegenerative diseases such as cerebellar ataxia.
16389595 Observational study of gene-disease association. (HuGE Navigator)
16325416 Ataxin-90A aggregates differed morphologically from ataxin7 - 100Q aggregatesand were more toxic to mesencephalic neurons, suggesting that toxicity was determined by the type of aggregate rather than the cellular misfolding response.
15936949 We show that transcription mediated by both CBP and RORalpha1 was repressed by expanded ataxin-7. Ataxin-7 may act as a repressor of transcription by inhibiting the acetylation activity of TFTC and STAGA.
15932940 Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration in Spinocerebellar ataxia type 7.
15316811 This patient with Spinocerebellar Ataxia 7 due to unique instability of the CAG repeat.
15148151 Observational study of genotype prevalence. (HuGE Navigator)
15115762 Demonstrate here that ataxin-7 is the human orthologue of the yeast SAGA SGF73 subunit and is a bona fide subunit of the human TFTC-like transcriptional complexes.
15115762 Ataxin-7 is the human orthologue of SGF73, which is a subunit of the yeast SAGA complex, a coactivator required for transcription of a subset of RNA Pol II-dependent genes. Ataxin-7 is a new subunit of the mammalian SAGA-like complexes, TFTC/STAGA.
12533095 identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in the neurodegeneration patterns characteristic of SCA7
12070661 Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals
11804332 Observational study of genotype prevalence. (HuGE Navigator)
11709544 Activated caspase-3 was recruited into the inclusions in both the cell models and human SCA7 brain and its expression was upregulated in cortical neurones.
11697524 CAG expansion in SCA7 locus is associated with Machado-Joseph disease

AA Sequence

MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAAST      1 - 70
SAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCP     71 - 140
AHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGG    141 - 210
VLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPA    211 - 280
TVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVI    281 - 350
DLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPR    351 - 420
TSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRL    421 - 490
SSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLW    491 - 560
KKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPA    561 - 630
ASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTS    631 - 700
GGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNV    701 - 770
RHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCS    771 - 840
PSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP                      841 - 892
//

Text Mined References (74)

PMID Year Title
26210447 2015 Quantification of Ataxin-3 and Ataxin-7 aggregates formed in vivo in Drosophila reveals a threshold of aggregated polyglutamine proteins associated with cellular toxicity.
26195632 2015 Aggregation of Polyglutamine-expanded Ataxin 7 Protein Specifically Sequesters Ubiquitin-specific Protease 22 and Deteriorates Its Deubiquitinating Function in the Spt-Ada-Gcn5-Acetyltransferase (SAGA) Complex.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25900954 2015 Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.
25869926 2015 ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
25755283 2015 Poly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating Module.
25643591 2015 Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24859968 2014 The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.
24374739 2014 Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families.
24129567 2013 Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7.
23892081 2013 Structural basis for recognition of the third SH3 domain of full-length R85 (R85FL)/ponsin by ataxin-7.
23828024 2013 Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population.
23368522 2014 Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect.
23236151 2012 Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes.
23226359 2012 Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons.
23100044 2013 Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults.
22917585 2012 Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases.
22827889 2012 Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model.
22367614 2012 Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 model.
22100762 2012 Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.
22072678 2011 Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration.
21827908 2012 Spinocerebellar ataxia type 7.
21078624 2011 Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
20739808 Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7.
20732423 2011 Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7).
20634802 2010 The structural plasticity of SCA7 domains defines their differential nucleosome-binding properties.
20600911 2010 Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in spinocerebellar ataxia 7 mouse retina.
20069235 2009 Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.
19955365 2009 Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment.
19909779 2010 Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation.
19843541 2010 SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.
19789634 2009 Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype.
19259763 2009 The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.
19235102 Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.
19172503 2009 Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7).
18325672 2008 Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia.
18216249 2008 The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.
18206972 2008 A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing.
18182848 2007 Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: correlation and alternative explanations for disease pathogenesis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17720198 2008 Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable.
17254003 2007 Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise.
17026624 2006 Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics.
16962040 [Role of chromatin alterations in neurodegeneration induced by polyglutamine-expanded ataxin-7].
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16389595 2006 CAG repeats in Restless Legs syndrome.
16325416 2006 Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity.
16314424 2006 Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal.
15936949 2005 A role for both wild-type and expanded ataxin-7 in transcriptional regulation.
15932940 2005 Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15316811 2004 Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15148151 2004 Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
15115762 2004 Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12944423 2003 Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics.
12533095 2003 A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.
12070661 2002 Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals.
11804332 2001 Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7.
11734547 2001 Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex.
11709544 2001 Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.
11697524 2001 A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.
11580893 2001 Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.
11371513 2001 Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.
10713882 2000 Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.
10598805 1999 Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration.
10441328 1999 Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.
9425224 1998 Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.
9288099 1997 Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.
7647798 1995 The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.