UniProt:O15265 ATXN7

chain
  • chain:1-892
checksum 9AEA787D77103C5F
comment
  • FUNCTION Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex (PubMed:15932940, PubMed:18206972). Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation (PubMed:15932940, PubMed:18206972). Probably involved in tethering the deubiquitination module within the SAGA complex (PubMed:24493646). Necessary for microtubule cytoskeleton stabilization (PubMed:22100762). Involved in neurodegeneration (PubMed:9288099).SUBUNIT Component of the SAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP, TAF9 and ATXN7 (PubMed:15932940, PubMed:18206972). The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22 (PubMed:15932940, PubMed:18206972). Interacts with SORBS1, PSMC1 and CRX (PubMed:11371513, PubMed:11734547). Interacts with TRRAP, GCN5L2 and TAF10 (PubMed:15115762). Interacts with alpha tubulin (PubMed:22100762).INTERACTION In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus (PubMed:10441328). It is able to shuttle between the nucleus and cytoplasm (PubMed:16314424).SUBCELLULAR LOCATION Isoform a is expressed in CNS, but is expressed predominantly in the peripherical tissues.TISSUE SPECIFICITY Isoform b is expressed in CNS (PubMed:12533095). 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 (PubMed:12533095).PTM Proteolytically cleaved by caspase-7 (CASP7) (PubMed:17646170). The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert distinct toxic influences that could contribute to selective neurodegeneration (PubMed:17646170).PTM Sumoylation decreases the aggregation propensity and cellular toxicity of forms with an expanded poly-Gln region but has no effect on subcellular location or interaction with components of the STAGA complex.POLYMORPHISM The poly-Gln region of ATXN7 is highly polymorphic (4 to 18 repeats) in the normal population and is expanded to about 38-130 repeats in SCA7 patients. Intermediate alleles with 28 to 35 repeats are prone to further expansion.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ataxin-7 family.
crossReference
databaseName UniProt
dbId 50557
description
  • recommendedName: fullName evidence="18"Ataxin-7 alternativeName: fullName evidence="20"Spinocerebellar ataxia type 7 protein
displayName UniProt:O15265 ATXN7
geneName
  • ATXN7
  • SCA7
identifier O15265
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • Cytoskeleton
  • Disease variant
  • Isopeptide bond
  • Neurodegeneration
  • Nucleus
  • Proteomics identification
  • Reference proteome
  • Spinocerebellar ataxia
  • Transcription
  • Transcription regulation
  • Triplet repeat expansion
  • Ubl conjugation
modified [InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType Protein
name
  • ATXN7
otherIdentifier
  • 11731022_a_at
  • 11731023_a_at
  • 11731024_s_at
  • 11744609_a_at
  • 11748420_a_at
  • 16942392
  • 204516_PM_at
  • 204516_at
  • 209964_PM_s_at
  • 209964_s_at
  • 232527_PM_at
  • 232527_at
  • 243259_PM_at
  • 243259_at
  • 2627389
  • 2627391
  • 2627392
  • 2627394
  • 2627397
  • 2627398
  • 2627399
  • 2627400
  • 2627401
  • 2627402
  • 2627403
  • 2627404
  • 2627405
  • 2627413
  • 2627420
  • 2627421
  • 2627422
  • 2627423
  • 2627424
  • 2627425
  • 2627426
  • 2627427
  • 2627428
  • 2627429
  • 2627430
  • 2627431
  • 2627433
  • 2627434
  • 2627435
  • 2627436
  • 2627437
  • 2627438
  • 2627439
  • 2627440
  • 2627441
  • 2627442
  • 2627443
  • 2627444
  • 2627445
  • 2627446
  • 2627447
  • 2627448
  • 2627449
  • 2627450
  • 2627453
  • 2627455
  • 2627456
  • 2627457
  • 2627464
  • 2627466
  • 37167_at
  • 43242_at
  • 49291_r_at
  • 51174_at
  • 6314
  • 8080878
  • 91380_at
  • A_14_P102272
  • A_14_P103923
  • A_23_P257155
  • A_24_P25074
  • A_33_P3320782
  • GE55130
  • GE713421
  • GO:0000124
  • GO:0000226
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0005730
  • GO:0005737
  • GO:0005829
  • GO:0005856
  • GO:0006282
  • GO:0006355
  • GO:0006357
  • GO:0006997
  • GO:0007010
  • GO:0007026
  • GO:0007601
  • GO:0015630
  • GO:0016363
  • GO:0033276
  • GO:0043484
  • GO:0045893
  • GO:0050877
  • HMNXSV003022166
  • Hs.108447.0.S2_3p_at
  • Hs.151845.0.A1_3p_at
  • Hs.282421.1.A1_3p_at
  • ILMN_1688602
  • ILMN_1913537
  • PH_hs_0006006
  • TC03000394.hg
  • TC03002368.hg
  • g3192953_3p_a_at
  • g3192953_3p_x_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • ATX7_HUMAN
  • B4E207
  • E9PHP9
  • O75328
  • O75329
  • Q9Y6P8
sequenceLength 892
species [Species:48887] Homo sapiens
stId uniprot:O15265
url http://purl.uniprot.org/uniprot/O15265
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