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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SH3GLB1
SH3 domain containing GRB2 like, endophilin B1
Chromosome 1 · 1p22.3
NCBI Gene: 51100Ensembl: ENSG00000097033.15HGNC: HGNC:10833UniProt: A0A087WW40
100PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
autophagosome membraneidentical protein bindingcytosolmidbodyskin diseasegliomaobesityposterior cortical atrophy
✦AI Summary

SH3GLB1 (endophilin B1) is a multifunctional membrane curvature-inducing protein that plays critical roles in autophagy, mitochondrial dynamics, and apoptosis regulation. The protein functions as a key regulator of autophagy by interacting with the PIK3C3 complex II and facilitating ATG9A trafficking from the Golgi to form autophagosomes 1. SH3GLB1 is essential for mitophagy, the selective autophagy of damaged mitochondria, and its deficiency leads to mitochondrial accumulation and impaired mitochondrial clearance 12. In cancer contexts, SH3GLB1 exhibits tumor suppressor functions, with reduced expression associated with poorer survival outcomes across multiple cancer types 3. The protein regulates glioblastoma stem cell characteristics by controlling CD133 expression through histone H4K5 acetylation modifications 4 and is required for NOTCH2 activation in hypoxic glioblastoma environments 5. SH3GLB1 undergoes SUMO2-mediated SUMOylation, which promotes mitophagy activation and contributes to ionizing radiation-induced cardiac hypertrophy 2. As a haploinsufficient tumor suppressor, SH3GLB1 loss enhances chr1 instability and apoptosis resistance during oncogene-driven transformation 1. The protein's dysfunction has been implicated in cardiovascular disease and identified as a potential biomarker for schizophrenia risk 6.

Sources cited
1
SH3GLB1 regulates autophagy through PIK3C3 complex II interaction and ATG9A trafficking, functions as haploinsufficient tumor suppressor
PMID: 23680845
2
SUMO2-mediated SUMOylation of SH3GLB1 promotes mitophagy activation and contributes to cardiac hypertrophy
PMID: 35487252
3
SH3GLB1 expression is downregulated in tumors and associated with poorer survival outcomes
PMID: 41546112
4
SH3GLB1 regulates CD133 expression through histone H4K5 acetylation in glioblastoma
PMID: 37525108
5
SH3GLB1 is required for NOTCH2 activation in hypoxic glioblastoma environments
PMID: 40639082
6
SH3GLB1 identified as potential biomarker for schizophrenia risk
PMID: 38351068
Disease Associationsⓘ20
skin diseaseOpen Targets
0.13Weak
gliomaOpen Targets
0.08Suggestive
obesityOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
gestational diabetesOpen Targets
0.04Suggestive
prostate cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
myocardial infarctionOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
corneal ulcerOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.02Suggestive
SepsisOpen Targets
0.02Suggestive
melanomaOpen Targets
0.02Suggestive
cardiac hypertrophyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AMBRA1Protein interaction100%DNM1LProtein interaction100%UVRAGProtein interaction95%RUBCNProtein interaction95%ATG14Protein interaction95%IRGMProtein interaction88%
Tissue Expression6 tissues
Heart
100%
Brain
85%
Lung
76%
Bone Marrow
39%
Ovary
29%
Liver
28%
Gene Interaction Network
Click a node to explore
SH3GLB1AMBRA1DNM1LUVRAGRUBCNATG14IRGM
PROTEIN STRUCTURE
Preparing viewer…
PDB9G2U · 3.45 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.49Tolerant
Observed/Expected LoF0.39 [0.24–0.66]
RankingsWhere SH3GLB1 stands among ~20K protein-coding genes
  • #4,810of 20,598
    Most Researched100 · top quartile
  • #4,771of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedSH3GLB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comprehensive pan-cancer analysis reveals SH3GLB1 is a novel prognostic biomarker with immunomodulatory potential.
PMID: 41546112
Biol Direct · 2026
1.00
2
SUMO2-mediated SUMOylation of SH3GLB1 promotes ionizing radiation-induced hypertrophic cardiomyopathy through mitophagy activation.
PMID: 35487252
Eur J Pharmacol · 2022
0.90
3
Role of SH3GLB1 in the regulation of CD133 expression in GBM cells.
PMID: 37525108
BMC Cancer · 2023
0.80
4
Autophagy-related gene model as a novel risk factor for schizophrenia.
PMID: 38351068
Transl Psychiatry · 2024
0.70
5
Hypoxia induced SH3GLB1 is required for NOTCH2 activation and glioblastoma development.
PMID: 40639082
Biochem Biophys Res Commun · 2025
0.60