InnateDB Protein
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IDBP-602462.3
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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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ATXN7
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Protein Name
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ataxin 7
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Synonyms
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ADCAII; OPCA3; SCA7;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000439585
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InnateDB Gene
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IDBG-42987 (ATXN7)
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Protein Structure
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Function |
Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization. {ECO:0000269PubMed:22100762}.
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Subcellular Localization |
Isoform a: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. Note=In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus. It is able to shuttle between the nucleus and cytoplasm.Isoform b: Cytoplasm.
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Disease Associations |
Spinocerebellar ataxia 7 (SCA7) [MIM:164500]: 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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy. {ECO:0000269PubMed:9288099}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the peripherical tissues. Isoform b is also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is expressed at a lower level in the lung, lymphoblast and intestine.
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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 95 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
95
[view]
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Protein-Protein |
95
[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 |
3 [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 |
IPR013243
SCA7 domain
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PFAM |
PF08313
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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 |
O15265
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PhosphoSite |
PhosphoSite-O15265
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TrEMBL |
Q9UPD8
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UniProt Splice Variant |
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Entrez Gene |
6314
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UniGene |
Hs.743420
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RefSeq |
NP_001170858
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HUGO |
HGNC:10560
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OMIM |
607640
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CCDS |
CCDS54603
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HPRD |
06365
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IMGT |
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EMBL |
AA398030
AC012557
AC104162
AF032102
AF032103
AF032104
AF032105
AF332956
AJ000517
AK304062
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GenPept |
AAC19162
AAC19163
AAC19164
AAC39765
AAL79807
BAG64969
CAA04154
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