Property Summary

NCBI Gene PubMed Count 74
Grant Count 79
R01 Count 58
Funding $9,932,386.21
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 0.015
astrocytic glioma 1.300 0.024
oligodendroglioma 1.400 0.002
osteosarcoma 1.517 0.000
atypical teratoid / rhabdoid tumor -1.100 0.000
glioblastoma -1.200 0.000
pancreatic ductal adenocarcinoma liver m... 1.055 0.005
non-small cell lung cancer -1.126 0.000
intraductal papillary-mucinous adenoma (... 1.100 0.016
lung cancer -1.300 0.002
group 3 medulloblastoma 1.900 0.002
spina bifida -1.540 0.047
Pick disease 1.100 0.000
Breast cancer -1.300 0.000
ovarian cancer -1.700 0.000
dermatomyositis 1.300 0.001

Synonym

Accession O15265 B4E207 E9PHP9 O75328 O75329 Q9Y6P8
Symbols SCA7
OPCA3
ADCAII

Gene

PDB

2KKR  

 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.
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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.
More...