Seroatlas · Human Serome Atlas

STUB1

E3 ubiquitin-protein ligase CHIP

Also known as: CHIP, CHIP_HUMAN, HSPABP2, NY-CO-7, SDCCAG7, UBOX1

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

Protein identityUniProt · HPA

UniProt accession
Q9UNE7
Gene
STUB1
Ensembl
ENSG00000103266
Chromosome
16
Canonical length
303 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

Canonical amino-acid sequenceUniProt

303 residues, UniProt reviewed canonical sequence.

>Q9UNE7|STUB1
     1  MKGKEEKEGG ARLGAGGGSP EKSPSAQELK EQGNRLFVGR KYPEAAACYG RAITRNPLVA
    61  VYYTNRALCY LKMQQHEQAL ADCRRALELD GQSVKAHFFL GQCQLEMESY DEAIANLQRA
   121  YSLAKEQRLN FGDDIPSALR IAKKKRWNSI EERRIHQESE LHSYLSRLIA AERERELEEC
   181  QRNHEGDEDD SHVRAQQACI EAKHDKYMAD MDELFSQVDE KRKKRDIPDY LCGKISFELM
   241  REPCITPSGI TYDRKDIEEH LQRVGHFDPV TRSPLTQEQL IPNLAMKEVI DAFISENGWV
   301  EDY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STUB1 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)
0.35
Highest tissue expression
207 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 207 nTPM
  • cerebral cortex: 194 nTPM
  • amygdala: 181 nTPM
  • hippocampal formation: 149 nTPM
  • choroid plexus: 146 nTPM
  • heart muscle: 145 nTPM

Single-cell type

  • esophageal apical cells: 478 nCPM
  • esophageal suprabasal cells: 266 nCPM
  • epididymal principal cells: 242 nCPM
  • esophageal basal cells: 222 nCPM
  • breast lactating cells: 180 nCPM
  • fallopian tube ciliated cells: 168 nCPM

Immune cell

  • eosinophil: 22 nTPM
  • naive B-cell: 21 nTPM
  • plasmacytoid DC: 21 nTPM
  • memory B-cell: 20 nTPM
  • basophil: 18 nTPM
  • gdT-cell: 16 nTPM

Brain region

  • thalamus: 114 nTPM
  • pons: 101 nTPM
  • medulla oblongata: 101 nTPM
  • cerebral cortex: 98 nTPM
  • white matter: 97 nTPM
  • hypothalamus: 95 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about STUB1.

Disease | AllUniProt

Conditions STUB1 is implicated in, by any mechanism.

  • Spinocerebellar ataxia, autosomal recessive, 16 (SCAR16) MIM:615768
  • Spinocerebellar ataxia 48 (SCA48) MIM:618093

Disease | GeneticClinVar

44 pathogenic / likely-pathogenic of 288 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Autosomal recessive spinocerebellar ataxia 16
  • Spinocerebellar ataxia 48
  • Ovarian serous cystadenocarcinoma
  • STUB1-related disorder
  • Autosomal dominant and autosomal recessive STUB1-related disorders

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)
0.68
gnomAD pLI
0.02
gnomAD missense Z
1.16
DepMap mean gene effect
-0.17
DepMap dependency class
selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of STUB1 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 STUB1 as an antibody target. Whether an autoantibody or antibody against STUB1 could matter depends on whether native STUB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

STUB1 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 STUB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/STUB1. 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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