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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SH3YL1
SH3 and SYLF domain containing 1
Chromosome 2 · 2p25.3
NCBI Gene: 26751Ensembl: ENSG00000035115.23HGNC: HGNC:29546UniProt: Q96HL8
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphatase bindingphosphatidylinositol bindingruffle membraneagingmetabolic syndrometype 2 diabetes mellitusdiabetes mellitus
✦AI Summary

SH3YL1 is a phosphoinositide-binding protein that functions at the interface between plasma membrane and actin regulatory networks, coordinating cell membrane morphology with cytoskeletal dynamics 1. The protein contains a novel SYLF domain that binds phosphatidylinositol lipids (particularly PI(3,4,5)P3 and D5-phosphorylated phosphoinositides) and an SH3 domain 2. SH3YL1 regulates dorsal ruffle formation through phosphoinositide-dependent localization and interaction with SHIP2 phosphatase 2. Additionally, SH3YL1 mediates EGFR sorting into multivesicular bodies via interaction with ESCRT-I complex component Vps37B, controlling receptor degradation 3. In cancer biology, SH3YL1 cooperates with Dock4 to promote Rac1 activation and breast cancer cell migration 4. Clinically, SH3YL1 emerges as a promising biomarker across multiple diseases. Elevated plasma SH3YL1 associates with diabetic nephropathy in type 2 diabetes, correlating with albuminuria and blood pressure 5. DNA methylation variations in SH3YL1 are associated with myopia risk 6. In muscle-invasive bladder cancer, SH3YL1 expression correlates with NOX4 (r=0.62) and tumor invasiveness; low SH3YL1 predicts poor survival outcomes 7. Genome-wide association studies implicate SH3YL1 in kidney function and damage, supported by animal models 8.

Sources cited
1
SH3YL1/Ysc84 family proteins function at the hub of networks integrating F-actin regulation with membrane morphology changes
PMID: 25619255
2
SH3YL1 contains SYLF domain binding phosphoinositides; regulates dorsal ruffle formation through SHIP2 interaction
PMID: 21624956
3
SH3YL1 mediates EGFR sorting into multivesicular bodies via SH3 domain interaction with ESCRT-I component Vps37B
PMID: 31492760
4
SH3YL1 cooperates with Dock4 to promote Rac1 activation and cancer cell migration in breast cancer
PMID: 24508479
5
Elevated plasma SH3YL1 is associated with diabetic nephropathy, correlating with albuminuria and blood pressure in type 2 diabetes
PMID: 33223406
6
SH3YL1 DNA methylation variants are associated with myopia risk via multi-omics integration
PMID: 39538342
7
In muscle-invasive bladder cancer, SH3YL1 expression correlates with tumor invasiveness and interacts with NOX4; low expression predicts poor survival
PMID: 40362200
8
Genome-wide association studies implicate SH3YL1 in kidney function and damage, supported by animal models
PMID: 37365616
Disease Associationsⓘ20
agingOpen Targets
0.34Weak
metabolic syndromeOpen Targets
0.34Weak
type 2 diabetes mellitusOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.30Weak
skin cancerOpen Targets
0.29Weak
myopiaOpen Targets
0.29Weak
restless legs syndromeOpen Targets
0.22Weak
refractive errorOpen Targets
0.17Weak
Hashimoto's thyroiditisOpen Targets
0.17Weak
risk-taking behaviourOpen Targets
0.16Weak
Abnormality of refractionOpen Targets
0.15Weak
hypertensionOpen Targets
0.10Suggestive
osteoarthritis, hipOpen Targets
0.09Suggestive
goutOpen Targets
0.09Suggestive
obesityOpen Targets
0.09Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
smoking initiationOpen Targets
0.08Suggestive
complicationOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WASProtein interaction92%MVKProtein interaction84%SH3D19Protein interaction84%RCC2Shared pathway10%USP17L2Shared pathway6%CORO1CShared pathway5%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
69%
Lung
44%
Brain
38%
Heart
32%
Liver
26%
Gene Interaction Network
Click a node to explore
SH3YL1WASMVKSH3D19RCC2USP17L2CORO1C
PROTEIN STRUCTURE
Preparing viewer…
PDB2D8H · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.67–1.28]
RankingsWhere SH3YL1 stands among ~20K protein-coding genes
  • #12,667of 20,598
    Most Researched27
  • #13,530of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedSH3YL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.
PMID: 39538342
Clin Epigenetics · 2024
1.00
2
Diagnostic and Prognostic Potential of
PMID: 40362200
Int J Mol Sci · 2025
0.90
3
Function and interactions of the Ysc84/SH3yl1 family of actin- and lipid-binding proteins.
PMID: 25619255
Biochem Soc Trans · 2015
0.80
4
SH3YL1 protein as a novel biomarker for diabetic nephropathy in type 2 diabetes mellitus.
PMID: 33223406
Nutr Metab Cardiovasc Dis · 2021
0.70
5
SH3YL1 cooperates with ESCRT-I in the sorting and degradation of the EGF receptor.
PMID: 31492760
J Cell Sci · 2019
0.60