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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SPSB1
splA/ryanodine receptor domain and SOCS box containing 1
Chromosome 1 · 1p36.22
NCBI Gene: 80176Ensembl: ENSG00000171621.15HGNC: HGNC:30628UniProt: Q96BD6
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolubiquitin-like ligase-substrate adaptor activityubiquitin-dependent protein catabolic processprotein ubiquitinationAbnormality of the skeletal systemneurodegenerative diseaseallergic rhinitisasthma
✦AI Summary

SPSB1 (splA/ryanodine receptor domain and SOCS box containing 1) is a substrate recognition component of SCF-like E3 ubiquitin-protein ligase complexes that mediates proteasomal degradation of target proteins 12. Its primary characterized function involves negatively regulating nitric oxide production in activated macrophages by promoting NOS2 ubiquitination and degradation 2. Beyond immunity, SPSB1 has broader roles across multiple physiological systems. It regulates circadian clock function by targeting RevErbα for degradation 3, and controls ovarian cancer cell survival by destabilizing the cell cycle inhibitor p21 4. Recently, SPSB1 was identified as a key regulator of smooth muscle cell phenotype switching and senescence in thoracic aortic aneurysm pathogenesis, functioning through alternative splicing mechanisms 5. Additionally, SPSB1 regulates adipocyte differentiation by targeting FOG-2 transcriptional cofactor for degradation 6. SPSB1 has been associated with carpal tunnel syndrome susceptibility through exome-wide analysis 7, though it is dispensable for normal spermatogenesis 8. The protein recognizes substrates via a conserved consensus motif (D/E-I/L-N-N-N) in target proteins 9. These findings establish SPSB1 as a versatile E3 ligase adaptor with diverse roles in inflammation, circadian biology, cancer, vascular disease, and metabolic regulation.

Sources cited
1
SPSB1 is a substrate recognition component of SCF-like ECS E3 ubiquitin-protein ligase complexes
PMID: 15601820
2
SPSB1 negatively regulates nitric oxide production by mediating NOS2 ubiquitination and proteasomal degradation
PMID: 21199876
3
SPSB1 and SPSB4 regulate RevErbα degradation and circadian clock periodicity
PMID: 31607207
4
SPSB1 promotes p21 ubiquitin-mediated proteasomal degradation and enhances ovarian cancer cell survival
PMID: 30712944
5
SPSB1 regulates smooth muscle cell phenotype switching and senescence in thoracic aortic aneurysm through alternative splicing
PMID: 41251448
6
SPSB1/2/4 proteins mediate FOG-2 degradation during adipocyte differentiation via the D-L-N-N-N recognition motif
PMID: 41418348
7
SPSB1 is associated with carpal tunnel syndrome susceptibility identified through exome-wide sequencing
PMID: 40382669
8
SPSB1 is not essential for normal spermatogenesis or male fertility in mice
PMID: 40226024
9
SPSB1 recognizes substrates through conserved D/E-I/L-N-N-N consensus motif in target proteins
PMID: 20561531
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
allergic rhinitisOpen Targets
0.46Moderate
asthmaOpen Targets
0.44Moderate
Varicose veinsOpen Targets
0.43Moderate
Inguinal herniaOpen Targets
0.40Weak
Eczematoid dermatitisOpen Targets
0.39Weak
respiratory system diseaseOpen Targets
0.37Weak
Abdominal Aortic AneurysmOpen Targets
0.36Weak
erythematosquamous dermatosisOpen Targets
0.32Weak
seborrheic dermatitisOpen Targets
0.32Weak
lymphatic system diseaseOpen Targets
0.31Weak
vein disorderOpen Targets
0.31Weak
ovarian dysfunctionOpen Targets
0.31Weak
Chronic Obstructive AsthmaOpen Targets
0.31Weak
childhood onset asthmaOpen Targets
0.31Weak
HerniaOpen Targets
0.31Weak
deep vein thrombosisOpen Targets
0.27Weak
Abnormal thrombosisOpen Targets
0.26Weak
allergic diseaseOpen Targets
0.26Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KLHL8Shared pathway100%CUL5Protein interaction100%PAWRProtein interaction95%CISHProtein interaction86%NOS2Protein interaction74%PSMF1Shared pathway67%
Tissue Expression6 tissues
Liver
100%
Ovary
62%
Lung
61%
Brain
24%
Heart
23%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
SPSB1KLHL8CUL5PAWRCISHNOS2PSMF1
PROTEIN STRUCTURE
Preparing viewer…
PDB2JK9 · 1.79 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.67Intermediate
Observed/Expected LoF0.36 [0.21–0.64]
RankingsWhere SPSB1 stands among ~20K protein-coding genes
  • #8,615of 20,598
    Most Researched52
  • #4,601of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedSPSB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 40409638
1.00
2
SUMOylation stabilizes hSSB1 and enhances the recruitment of NBS1 to DNA damage sites.
PMID: 32576812
Signal Transduct Target Ther · 2020
0.90
3
The E3 Ligases Spsb1 and Spsb4 Regulate RevErbα Degradation and Circadian Period.
PMID: 31607207
J Biol Rhythms · 2019
0.80
4
Dissecting Shared Genetic Architecture of Thoracic Aortic Aneurysm and Aortic Related Traits and Identifying SplA/Ryanodine Receptor Domain and SOCS Box Containing 1 Involved in Smooth Muscle Phenotype Switching and Cell Senescence Through Alternative Splicing.
PMID: 41251448
FASEB J · 2025
0.70
5
Testis-enriched
PMID: 40226024
Am J Transl Res · 2025
0.60