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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RUSC1
RUN and SH3 domain containing 1
Chromosome 1 · 1q22
NCBI Gene: 23623Ensembl: ENSG00000160753.17HGNC: HGNC:17153UniProt: A0A8Q3SIT1
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolprotein polyubiquitinationactin bindingbreast cancergoutosteosarcomaneoplasm
✦AI Summary

RUSC1 (RUN and SH3 domain containing 1) is a multifunctional signaling adapter with roles in protein trafficking and cell signaling. The protein associates with the AP-4 complex and regulates vesicular trafficking at the trans-Golgi network and pre-synaptic membranes 1. RUSC1 acts as a signaling adapter promoting neuronal differentiation and NGF-dependent neurite outgrowth through MAPK-regulated pathways 2. It also regulates polyubiquitination of IKBKG, modulating NF-κB pathway signaling 3. Clinically, dysregulation of RUSC1-associated lncRNAs (RUSC1-AS1 and RUSC1-AS-N) represents a significant disease mechanism. These antisense transcripts are aberrantly upregulated in multiple cancers including breast cancer, osteosarcoma, and hepatocellular carcinoma, where they promote tumor progression 456789. RUSC1-AS1 promotes breast cancer and osteosarcoma through competing endogenous RNA mechanisms, sponging miR-340-5p and miR-326 to activate oncogenic PI3K/AKT and Wnt/β-catenin signaling 57. In hepatocellular carcinoma, RUSC1-AS1 activates NOTCH signaling via miR-7-5p sponging 6. Conversely, RUSC1-AS1 downregulation in type 2 diabetes inflammation suggests context-dependent roles 10. RUSC1-associated lncRNAs serve as prognostic biomarkers and potential therapeutic targets for cancer treatment.

Sources cited
1
The protein associates with the AP-4 complex and regulates vesicular trafficking at the trans-Golgi network and pre-synaptic membranes .
PMID: 30262884
2
RUSC1 acts as a signaling adapter promoting neuronal differentiation and NGF-dependent neurite outgrowth through MAPK-regulated pathways .
PMID: 15024033
3
It also regulates polyubiquitination of IKBKG, modulating NF-κB pathway signaling .
PMID: 19365808
4
These antisense transcripts are aberrantly upregulated in multiple cancers including breast cancer, osteosarcoma, and hepatocellular carcinoma, where they promote tumor progression , , , , , .
PMID: 32701359
5
Conversely, RUSC1-AS1 downregulation in type 2 diabetes inflammation suggests context-dependent roles .
PMID: 36874406
Disease Associationsⓘ20
breast cancerOpen Targets
0.09Suggestive
goutOpen Targets
0.09Suggestive
osteosarcomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.04Suggestive
delta-beta-thalassemiaOpen Targets
0.04Suggestive
Blackfan-Diamond anemiaOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.04Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.04Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.03Suggestive
carpal tunnel syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MKRN3Shared pathway100%DZIP3Shared pathway100%UBOX5Shared pathway100%MKRN1Shared pathway100%ZSWIM2Shared pathway100%ZNF738Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Ovary
86%
Heart
68%
Lung
65%
Bone Marrow
62%
Liver
37%
Gene Interaction Network
Click a node to explore
RUSC1MKRN3DZIP3UBOX5MKRN1ZSWIM2ZNF738
PROTEIN STRUCTURE
Preparing viewer…
PDB4GIW · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.43–0.72]
RankingsWhere RUSC1 stands among ~20K protein-coding genes
  • #11,792of 20,598
    Most Researched31
  • #5,509of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedRUSC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Long noncoding RNA RUSC1‑AS‑N promotes cell proliferation and metastasis through Wnt/β‑catenin signaling in human breast cancer.
PMID: 30569097
Mol Med Rep · 2019
1.00
2
LncRNA RUSC1-AS1 promotes osteosarcoma progression through regulating the miR-340-5p and PI3K/AKT pathway.
PMID: 34048366
Aging (Albany NY) · 2021
0.90
3
LncRNA RUSC1-AS1 promotes the proliferation of hepatocellular carcinoma cells through modulating NOTCH signaling.
PMID: 32701359
Neoplasma · 2020
0.80
4
RUSC1-AS1 promotes the malignant progression of breast cancer depending on the regulation of the miR-326/XRCC5 pathway.
PMID: 37429610
Thorac Cancer · 2023
0.70
5
Bioinformatics Analysis of the Inflammation-Associated lncRNA-mRNA Coexpression Network in Type 2 Diabetes.
PMID: 36874406
J Renin Angiotensin Aldosterone Syst · 2023
0.60