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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SPRR3
small proline rich protein 3
Chromosome 1 · 1q21.3
NCBI Gene: 6707Ensembl: ENSG00000163209.15HGNC: HGNC:11268UniProt: Q9UBC9
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein bindingGolgi apparatusperinuclear region of cytoplasmneurodegenerative diseasenon-small cell lung carcinomaoral squamous cell carcinomahead and neck squamous cell carcinoma
✦AI Summary

SPRR3 (small proline-rich protein 3) is a cornified envelope precursor protein primarily expressed in oral, esophageal, and bronchial epithelia, where it is strictly linked to keratinocyte terminal differentiation 1. The gene contains characteristic intragenic duplications creating proline-rich repeats and is regulated by multiple differentiation-specific promoter elements including Ets binding sites, AP-1 sites, and ATF/CRE motifs 1. Cigarette smoke upregulates SPRR3 through c-Jun/Fra1 heterodimerization at the AP-1 binding site, indicating involvement in pathogenic keratinization responses 2. Beyond its structural role, SPRR3 has emerged as a regulatory protein in inflammatory diseases. It regulates allergic airway inflammation through the IL-33/ILC2 axis via PI3K/AKT/NF-κB signaling 3, positioning it as a potential asthma therapeutic target. SPRR3 is also implicated in ocular diseases, with shared dysregulation in pterygium and meibomian gland dysfunction involving keratinization pathways 4, and represents a genetic susceptibility factor in atopic dermatitis 5. Clinically, SPRR3 shows prognostic significance in malignancies, with aberrant expression correlating to poorer outcomes across multiple cancer types and potential as a lung adenocarcinoma biomarker 6. Notably, SPRR3 expression is dramatically decreased in esophageal carcinomas compared to normal mucosa 7, suggesting tissue-specific dysregulation in cancer pathogenesis.

Sources cited
1
SPRR3 is a cornified envelope precursor protein expressed in oral and esophageal epithelia linked to keratinocyte terminal differentiation, with regulation by Ets, AP-1, and ATF/CRE promoter elements
PMID: 9889002
2
SPRR3 regulates allergic airway inflammation through IL-33/ILC2 axis and PI3K/AKT/NF-κB signaling, representing a therapeutic target for asthma
PMID: 35126350
3
SPRR3 shows differential expression across malignant tumors with association to poorer prognosis and potential as a diagnostic/prognostic biomarker for lung adenocarcinoma
PMID: 39134193
4
SPRR3 is part of a shared gene signature between pterygium and meibomian gland dysfunction, involved in keratinization and cornified envelope formation pathways
PMID: 31373692
5
Cigarette smoke upregulates SPRR3 through c-Jun/Fra1 heterodimerization at the AP-1/TRE site in bronchial epithelial cells
PMID: 30073865
6
SPRR3 expression is dramatically decreased in esophageal carcinomas compared to adjacent normal mucosa
PMID: 11133802
7
SPRR3 mutations are linked to atopic dermatitis as part of epidermal barrier dysfunction mechanisms
PMID: 26385242
8
Two isoforms of SPRR3 are present in human saliva and fetal oral tissue, differing by an octapeptide repeat and amino acid substitution
PMID: 20599699
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
non-small cell lung carcinomaOpen Targets
0.09Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
uridine-cytidineuriaOpen Targets
0.06Suggestive
psoriasisOpen Targets
0.06Suggestive
isolated sedoheptulokinase deficiencyOpen Targets
0.06Suggestive
pentosuriaOpen Targets
0.06Suggestive
iminoglycinuriaOpen Targets
0.06Suggestive
beta-aminoisobutyric acid, urinary excretion ofOpen Targets
0.06Suggestive
cystathioninuriaOpen Targets
0.06Suggestive
phosphohydroxylysinuriaOpen Targets
0.06Suggestive
Seizures - intellectual disability due to hydroxylysinuriaOpen Targets
0.06Suggestive
seizures-intellectual disability due to hydroxylysinuria syndromeOpen Targets
0.06Suggestive
esophageal squamous cell carcinomaOpen Targets
0.06Suggestive
hyperdibasic aminoaciduria type 1Open Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
carnosinemiaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
C4BPAProtein interaction89%S100A10Protein interaction89%SPRR2DProtein interaction89%SPRR2EProtein interaction89%TCHHProtein interaction81%SPRR2GProtein interaction81%
Tissue Expression6 tissues
Liver
100%
Ovary
53%
Lung
22%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SPRR3C4BPAS100A10SPRR2DSPRR2ETCHHSPRR2G
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UBC9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.87LoF Tolerant
pLIⓘ
0.18Tolerant
Observed/Expected LoF0.80 [0.23–1.87]
RankingsWhere SPRR3 stands among ~20K protein-coding genes
  • #8,736of 20,598
    Most Researched51
  • #16,985of 17,882
    Most Constrained (LOEUF)1.87
Genes detectedSPRR3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure and evolution of the human SPRR3 gene: implications for function and regulation.
PMID: 9889002
Genomics · 1999
1.00
2
Small Proline-Rich Protein 3 Regulates IL-33/ILC2 Axis to Promote Allergic Airway Inflammation.
PMID: 35126350
Front Immunol · 2021
0.90
3
Predictive role and molecular biological function of proline-rich small repeat protein SPRR3 in the diagnosis of lung adenocarcinoma.
PMID: 39134193
Int J Biol Macromol · 2024
0.80
4
Shared gene signature between pterygium and meibomian gland dysfunction uncovered through gene-expression meta-analysis.
PMID: 31373692
Ann Hum Genet · 2019
0.70
5
Cigarette smoke upregulates SPRR3 by favoring c-Jun/Fra1 heterodimerization in human bronchial epithelial cells.
PMID: 30073865
Future Oncol · 2018
0.60