Seroatlas · Human Serome Atlas

ATXN10

Ataxin-10

Also known as: ATX10, ATX10_HUMAN, E46L, FLJ37990, SCA10

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

Protein identityUniProt · HPA

UniProt accession
Q9UBB4
Gene
ATXN10
Ensembl
ENSG00000130638
Chromosome
22
Canonical length
475 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane,Primary cilium,Cytosol
Quaternary structure
Homooligomer

OverviewNCBI Gene

This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

475 residues, UniProt reviewed canonical sequence.

>Q9UBB4|ATXN10
     1  MAAPRPPPAR LSGVMVPAPI QDLEALRALT ALFKEQRNRE TAPRTIFQRV LDILKKSSHA
    61  VELACRDPSQ VENLASSLQL ITECFRCLRN ACIECSVNQN SIRNLDTIGV AVDLILLFRE
   121  LRVEQESLLT AFRCGLQFLG NIASRNEDSQ SIVWVHAFPE LFLSCLNHPD KKIVAYSSMI
   181  LFTSLNHERM KELEENLNIA IDVIDAYQKH PESEWPFLII TDLFLKSPEL VQAMFPKLNN
   241  QERVTLLDLM IAKITSDEPL TKDDIPVFLR HAELIASTFV DQCKTVLKLA SEEPPDDEEA
   301  LATIRLLDVL CEMTVNTELL GYLQVFPGLL ERVIDLLRVI HVAGKETTNI FSNCGCVRAE
   361  GDISNVANGF KSHLIRLIGN LCYKNKDNQD KVNELDGIPL ILDNCNISDS NPFLTQWVIY
   421  AIRNLTEDNS QNQDLIAKME EQGLADASLL KKVGFEVEKK GEKLILKSTR DTPKP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATXN10 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)
0.26
Highest tissue expression
74 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 74 nTPM
  • heart muscle: 70 nTPM
  • skeletal muscle: 67 nTPM
  • thymus: 61 nTPM
  • parathyroid gland: 61 nTPM
  • liver: 61 nTPM

Single-cell type

  • somatotrophs: 384 nCPM
  • lactotrophs: 358 nCPM
  • thyrotrophs: 305 nCPM
  • bergmann glia: 292 nCPM
  • sertoli cells: 279 nCPM
  • gonadotrophs: 273 nCPM

Immune cell

  • myeloid DC: 164 nTPM
  • non-classical monocyte: 140 nTPM
  • intermediate monocyte: 122 nTPM
  • total PBMC: 120 nTPM
  • classical monocyte: 100 nTPM
  • MAIT T-cell: 92 nTPM

Brain region

  • cerebral cortex: 116 nTPM
  • hypothalamus: 112 nTPM
  • hippocampal formation: 111 nTPM
  • thalamus: 106 nTPM
  • basal ganglia: 101 nTPM
  • white matter: 99 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATXN10.

Disease | AllUniProt

Conditions ATXN10 is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 66 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spinocerebellar ataxia type 10

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)
0.7
gnomAD pLI
0
gnomAD missense Z
-0.33
DepMap mean gene effect
-0.57
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 ATXN10 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 ATXN10 as an antibody target. Whether an autoantibody or antibody against ATXN10 could matter depends on whether native ATXN10 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATXN10 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 ATXN10 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ATXN10. 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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