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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SSBP3
single stranded DNA binding protein 3
Chromosome 1 · 1p32.3
NCBI Gene: 23648Ensembl: ENSG00000157216.17HGNC: HGNC:15674UniProt: Q9BWW4
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtranscription coactivator activitynucleuspositive regulation of transcription by RNA polymerase IIneurodegenerative diseasealcohol drinkingAbruptio PlacentaeFuchs' endothelial dystrophy
✦AI Summary

SSBP3 (single-stranded DNA-binding protein 3) is a transcriptional coregulator that functions as an essential component of the LIM-homeodomain transcription factor complex. While originally characterized for DNA binding capabilities, SSBP3's primary role is stabilizing transcriptional complexes through direct interaction with architectural cofactor LDB1 and transcription factors like Isl1 1. SSBP3 stabilizes LDB1 dimerization and is critical for LDB1-mediated chr1 looping and gene transcription, with only SSBP3 being essential among SSBP family members for erythroid cell viability 1. In pancreatic β-cells, SSBP3 interacts with Isl1 and Ldb1 to regulate target genes MafA and Glp1r, with SSBP3 deletion causing hyperglycemia, glucose intolerance, and reduced glucose-stimulated insulin secretion 2. SSBP3 is dosage-sensitive, with altered expression levels affecting neurodevelopment; its overexpression in Drosophila caused anatomical abnormalities, altered synaptic density, oxidative stress pathway perturbation, and autism-associated behavioral defects 3. SSBP3 stability is regulated by the E3 ubiquitin ligase SIVA1, which controls its proteasomal degradation 4. Genetic variants in SSBP3 associate with skin hydration through epidermal differentiation regulation 5 and with migraine and Fuchs corneal dystrophy susceptibility 6, 7.

Sources cited
1
SSBP3 is essential for LDB1 function, stabilizes LDB1 dimerization, and is critical for chromatin looping and transcription
PMID: 40803327
2
SSBP3 is required for pancreatic β-cell identity, glucose homeostasis, and regulates target genes MafA and Glp1r
PMID: 37536498
3
SSBP3 is dosage-sensitive; overexpression causes neurodevelopmental abnormalities and autism-associated behavioral defects; involves Wnt signaling and oxidative stress pathways
PMID: 37486945
4
SIVA1 regulates SSBP3 stability through enhancement of ubiquitination and proteasomal degradation
PMID: 30363057
5
SSBP3 interacts with Isl1 and Ldb1 to impact pancreatic β-cell target genes MafA and Glp1r
PMID: 26495868
6
SSBP3 genetic variants associate with skin hydration and epidermal differentiation
PMID: 30065583
7
SSBP3 is implicated in shared genetic loci between migraine and thyroid function traits
PMID: 36739509
8
SSBP3 is associated with Fuchs endothelial corneal dystrophy susceptibility in multi-ancestry GWAS
PMID: 38582945
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
alcohol drinkingOpen Targets
0.38Weak
Abruptio PlacentaeOpen Targets
0.31Weak
Fuchs' endothelial dystrophyOpen Targets
0.29Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.27Weak
prostate carcinomaOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.23Weak
lung diseaseOpen Targets
0.22Weak
pleural empyemaOpen Targets
0.22Weak
pneumothoraxOpen Targets
0.22Weak
cutaneous melanomaOpen Targets
0.21Weak
cholelithiasisOpen Targets
0.19Weak
obesityOpen Targets
0.19Weak
Abnormal urine sodium concentrationOpen Targets
0.17Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
developmental disorder of mental healthOpen Targets
0.12Weak
syndromic intellectual disabilityOpen Targets
0.12Weak
autismOpen Targets
0.06Suggestive
AnxietyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LHX4Protein interaction98%ISL2Protein interaction97%LHX2Protein interaction89%ISL1Protein interaction88%LHX3Protein interaction88%LDB1Protein interaction88%
Tissue Expression6 tissues
Brain
100%
Ovary
99%
Bone Marrow
56%
Liver
38%
Heart
30%
Lung
25%
Gene Interaction Network
Click a node to explore
SSBP3LHX4ISL2LHX2ISL1LHX3LDB1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BWW4
View on AlphaFold ↗
RankingsWhere SSBP3 stands among ~20K protein-coding genes
  • #9,139of 20,598
    Most Researched48
Genes detectedSSBP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The ortholog of human ssDNA-binding protein SSBP3 influences neurodevelopment and autism-like behaviors in Drosophila melanogaster.
PMID: 37486945
PLoS Biol · 2023
1.00
2
Single-stranded DNA-binding proteins are essential components of the architectural LDB1 protein complex.
PMID: 40803327
Mol Cell · 2025
0.90
3
Possible Role of Single Stranded DNA Binding Protein 3 on Skin Hydration by Regulating Epidermal Differentiation.
PMID: 30065583
Ann Dermatol · 2018
0.80
4
[SIVA1 Regulates the Stability of Single-Stranded DNA-Binding Protein 3 Isoforms].
PMID: 30363057
Mol Biol (Mosk) · 2018
0.70
5
The SSBP3 co-regulator is required for glucose homeostasis, pancreatic islet architecture, and beta-cell identity.
PMID: 37536498
Mol Metab · 2023
0.60