HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SPSB3
splA/ryanodine receptor domain and SOCS box containing 3
Chromosome 16 · 16p13.3
NCBI Gene: 90864Ensembl: ENSG00000162032.17HGNC: HGNC:30629UniProt: Q6PJ21
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin-like ligase-substrate adaptor activityproteasome-mediated ubiquitin-dependent protein catabolic processprotein K48-linked ubiquitinationReduced insulin like growth factor binding protein acid labile subunit concentrationshort stature due to primary acid-labile subunit deficiencyAbnormality of the skeletal systemgenetic disorder
✦AI Summary

SPSB3 functions as a substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (CRL5-SPSB3) that mediates proteasomal degradation of target proteins 1. The primary function involves recognizing and binding nucleosome-bound cGAS through a highly conserved C-terminal Asn-Asn (NN) degron motif, catalyzing 'Lys-48'-linked ubiquitination of nuclear cGAS during G1 and G2 phases to maintain low intranuclear cGAS abundance and prevent aberrant immune activation 1. Additionally, SPSB3 targets SNAIL for GSK-3β phosphorylation-dependent ubiquitination and degradation, thereby regulating epithelial-mesenchymal transition (EMT) and cancer metastasis 2. The protein shows tissue-specific expression patterns, being testis-enriched in mice, though Spsb3-knockout mice display normal fertility and spermatogenesis 3. SPSB3 has clinical significance as its expression negatively correlates with SNAIL in esophageal squamous cell carcinoma, with low SPSB3 expression indicating lymph node metastasis and poor survival outcomes 2. The protein has also been identified as a potential biomarker in various diseases including Parkinson's disease and cerebral malaria 45.

Sources cited
1
SPSB3 functions as substrate-recognition component of CRL5 complex that ubiquitinates nuclear cGAS via NN degron motif
PMID: 38418882
2
SPSB3 targets SNAIL for GSK-3β-dependent degradation and regulates EMT and cancer metastasis
PMID: 29059170
3
SPSB3 is testis-enriched but not essential for mouse spermatogenesis
PMID: 40225996
4
SPSB3 identified as potential biomarker in Parkinson's disease
PMID: 32276105
5
SPSB3 identified as key gene related to cerebral malaria
PMID: 33942992
Disease Associationsⓘ20
Reduced insulin like growth factor binding protein acid labile subunit concentrationOpen Targets
0.49Moderate
short stature due to primary acid-labile subunit deficiencyOpen Targets
0.49Moderate
Abnormality of the skeletal systemOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
atrial fibrillationOpen Targets
0.18Weak
neurodegenerative diseaseOpen Targets
0.14Weak
open-angle glaucomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
malariaOpen Targets
0.01Suggestive
coronary artery diseaseOpen Targets
0.00Suggestive
SepsisOpen Targets
0.00Suggestive
systemic sclerodermaOpen Targets
0.00Suggestive
prostate adenocarcinomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
esophageal squamous cell carcinomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
glaucomaOpen Targets
0.00Suggestive
hepatitis C virus infectionOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ELOCProtein interaction100%CUL5Protein interaction100%CISHProtein interaction71%UBE2G1Shared pathway43%ZNRF2Shared pathway40%KLHL8Shared pathway40%
Tissue Expression6 tissues
Brain
100%
Ovary
12%
Liver
10%
Lung
8%
Heart
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SPSB3ELOCCUL5CISHUBE2G1ZNRF2KLHL8
PROTEIN STRUCTURE
Preparing viewer…
PDB8OL1 · 3.50 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.45–0.93]
RankingsWhere SPSB3 stands among ~20K protein-coding genes
  • #11,620of 20,598
    Most Researched32
  • #8,523of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedSPSB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The CRL5-SPSB3 ubiquitin ligase targets nuclear cGAS for degradation.
PMID: 38418882
Nature · 2024
1.00
2
Colorectal cancer stages transcriptome analysis.
PMID: 29182684
PLoS One · 2017
0.90
3
SPSB3 targets SNAIL for degradation in GSK-3β phosphorylation-dependent manner and regulates metastasis.
PMID: 29059170
Oncogene · 2018
0.80
4
PMID: 40225996
Am J Transl Res · 2025
0.70
5
Weighted gene co-expression network analysis reveals specific modules and biomarkers in Parkinson's disease.
PMID: 32276105
Neurosci Lett · 2020
0.60