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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SH3KBP1
SH3 domain containing kinase binding protein 1
Chromosome X · Xp22.12
NCBI Gene: 30011Ensembl: ENSG00000147010.19HGNC: HGNC:13867UniProt: A0A8V8TNL0
171PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmcytosolpositive regulation of B cell activationlisteriosisX-linked agammaglobulinemianeurodegenerative diseaselaterality defects, autosomal dominant
✦AI Summary

SH3KBP1 is an X-linked adapter protein that regulates multiple signaling pathways critical for immune function, muscle integrity, and cell survival. Functionally, SH3KBP1 enhances innate immune responses by promoting RIG-I polyubiquitination through TRIM25 interaction, thereby increasing interferon production 1. In skeletal muscle, SH3KBP1 binds dynamin-2 via its N-terminus and associates with the endoplasmic reticulum through calnexin, controlling myonuclei positioning and myofiber formation 2. The protein also recruits PI3K via liquid-liquid phase separation at bleb membranes through a Septin-SH3KBP1-PI3K axis, promoting anoikis resistance in detached cells 3. Additionally, SH3KBP1 functions as part of a SH3-domain-dependent adaptor module (CASS group) at podosomes and phagocytic cups in immune cells 4. Clinically, SH3KBP1 is implicated in autism spectrum disorder (ASD), identified as an associated gene in X-chrX-wide association studies 5. Loss of Sh3kbp1 increases susceptibility to viral infection and exacerbates centronuclear myopathy phenotypes 12. SH3KBP1 also serves as a predictive biomarker in infantile hemangioma pathogenesis and influences immunotherapy response and prognosis in epithelial ovarian carcinoma 67.

Sources cited
1
SH3KBP1 enhances RIG-I signal transduction through K63-linked polyubiquitination via TRIM25 interaction; viral NSP2 promotes SH3KBP1 autophagic degradation to antagonize immune responses
PMID: 39466846
2
SH3KBP1 N-terminus binds dynamin-2 and C-terminus associates with ER via calnexin, controlling myonuclei positioning and myofiber formation; depletion aggravates centronuclear myopathy
PMID: 40065183
3
SH3KBP1 recruits PI3K via phase separation at bleb membranes as part of Septin-SH3KBP1-PI3K axis to regulate phosphoinositide distribution and promote anoikis resistance
PMID: 40445717
4
SH3KBP1 is part of SH3-domain-dependent CASS adaptor module colocalizing at podosomes and phagocytic cups in macrophages and microglia
PMID: 41208482
5
SH3KBP1 identified as associated gene in X-chromosome-wide association study for autism spectrum disorder
PMID: 39706197
6
SH3KBP1 is highly expressed in infantile hemangioma and plays crucial role in cell migration and invasion
PMID: 39955954
7
SH3KBP1 included in ubiquitin-related prognostic signature predicting immunotherapy response and prognosis in epithelial ovarian carcinoma
PMID: 39448713
Disease Associationsⓘ21
listeriosisOpen Targets
0.46Moderate
X-linked agammaglobulinemiaOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.23Weak
laterality defects, autosomal dominantOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.06Suggestive
esophageal squamous cell carcinomaOpen Targets
0.06Suggestive
chronic lymphocytic leukemiaOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
malignant colon neoplasmOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
colon carcinomaOpen Targets
0.03Suggestive
hypouricemia, renal, 2Open Targets
0.03Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.03Suggestive
xanthinuria type IIOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
Immunodeficiency 61UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CBLBProtein interaction100%METProtein interaction100%SH3BP2Protein interaction100%SH3GL2Protein interaction100%SH3GL3Protein interaction100%SPRY2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
55%
Brain
55%
Heart
54%
Liver
17%
Ovary
14%
Gene Interaction Network
Click a node to explore
SH3KBP1CBLBMETSH3BP2SH3GL2SH3GL3SPRY2
PROTEIN STRUCTURE
Preparing viewer…
PDB5ABS · 1.74 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.09–0.29]
RankingsWhere SH3KBP1 stands among ~20K protein-coding genes
  • #2,584of 20,598
    Most Researched171 · top quartile
  • #1,049of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedSH3KBP1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Porcine reproductive and respiratory syndrome virus nonstructural protein 2 promotes the autophagic degradation of adaptor protein SH3KBP1 to antagonize host innate immune responses by enhancing K63-linked polyubiquitination of RIG-I.
PMID: 39466846
PLoS Pathog · 2024
1.00
2
The microprotein HDSP promotes gastric cancer progression through activating the MECOM-SPINK1-EGFR signaling axis.
PMID: 39333095
Nat Commun · 2024
0.90
3
Chromosome X-wide common variant association study in autism spectrum disorder.
PMID: 39706197
Am J Hum Genet · 2025
0.80
4
SH3KBP1 promotes skeletal myofiber formation and functionality through ER/SR architecture integrity.
PMID: 40065183
EMBO Rep · 2025
0.70
5
Clathrin Light Chain B Drives Hepatocellular Carcinoma Progression Through Dual Mechanisms: Small Extracellular Vesicle-Mediated Angiogenesis and the NF-κB-PCLAF Signaling Axis.
PMID: 40820941
Adv Sci (Weinh) · 2025
0.64