Seroatlas · Human Serome Atlas

ATXN7

Ataxin-7

Also known as: ADCAII, ATX7_HUMAN, OPCA3, SCA7, SGF73

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O15265
Gene
ATXN7
Ensembl
ENSG00000163635
Chromosome
3
Canonical length
892 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

892 residues, UniProt reviewed canonical sequence.

>O15265|ATXN7
     1  MSERAADDVR GEPRRAAAAA GGAAAAAARQ QQQQQQQQQP PPPQPQRQQH PPPPPRRTRP
    61  EDGGPGAAST SAAAMATVGE RRPLPSPEVM LGQSWNLWVE ASKLPGKDGT ELDESFKEFG
   121  KNREVMGLCR EDMPIFGFCP AHDDFYLVVC NDCNQVVKPQ AFQSHYERRH SSSSKPPLAV
   181  PPTSVFSFFP SLSKSKGGSA SGSNRSSSGG VLSASSSSSK LLKSPKEKLQ LRGNTRPMHP
   241  IQQSRVPHGR IMTPSVKVEK IHPKMDGTLL KSAVGPTCPA TVSSLVKPGL NCPSIPKPTL
   301  PSPGQILNGK GLPAPPTLEK KPEDNSNNRK FLNKRLSERE FDPDIHCGVI DLDTKKPCTR
   361  SLTCKTHSLT QRRAVQGRRK RFDVLLAEHK NKTREKELIR HPDSQQPPQP LRDPHPAPPR
   421  TSQEPHQNPH GVIPSESKPF VASKPKPHTP SLPRPPGCPA QQGGSAPIDP PPVHESPHPP
   481  LPATEPASRL SSEEGEGDDK EESVEKLDCH YSGHHPQPAS FCTFGSRQIG RGYYVFDSRW
   541  NRLRCALNLM VEKHLNAQLW KKIPPVPSTT SPISTRIPHR TNSVPTSQCG VSYLAAATVS
   601  TSPVLLSSTC ISPNSKSVPA HGTTLNAQPA ASGAMDPVCS MQSRQVSSSS SSPSTPSGLS
   661  SVPSSPMSRK PQKLKSSKSL RPKESSGNST NCQNASSSTS GGSGKKRKNS SPLLVHSSSS
   721  SSSSSSSSHS MESFRKNCVA HSGPPYPSTV TSSHSIGLNC VTNKANAVNV RHDQSGRGPP
   781  TGSPAESIKR MSVMVNSSDS TLSLGPFIHQ SNELPVNSHG SFSHSHTPLD KLIGKKRKCS
   841  PSSSSINNSS SKPTKVAKVP AVNNVHMKHT GTIPGAQGLM NSSLLHQPKA RP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATXN7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.67
Highest tissue expression
23 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 23 nTPM
  • pancreas: 20 nTPM
  • thymus: 15 nTPM
  • retina: 15 nTPM
  • testis: 14 nTPM
  • lymph node: 12 nTPM

Single-cell type

  • neutrophils: 427 nCPM
  • epicardial cells: 382 nCPM
  • retinal pigment epithelial cells: 298 nCPM
  • endometrial luminal cells: 297 nCPM
  • neutrophil progenitors: 239 nCPM
  • endometrial glandular cells: 225 nCPM

Immune cell

  • basophil: 16 nTPM
  • memory CD4 T-cell: 6.2 nTPM
  • naive CD4 T-cell: 6.2 nTPM
  • T-reg: 6.2 nTPM
  • neutrophil: 4.5 nTPM
  • naive CD8 T-cell: 4.1 nTPM

Brain region

  • cerebellum: 29 nTPM
  • amygdala: 28 nTPM
  • cerebral cortex: 28 nTPM
  • basal ganglia: 28 nTPM
  • medulla oblongata: 27 nTPM
  • hypothalamus: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATXN7.

Disease | AllUniProt

Conditions ATXN7 is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 248 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.33
gnomAD pLI
0.96
gnomAD missense Z
-0.62
DepMap mean gene effect
0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATXN7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATXN7 as an antibody target. Whether an autoantibody or antibody against ATXN7 could matter depends on whether native ATXN7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATXN7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATXN7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ATXN7. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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