TUSC3
Tumor Suppressor Candidate 3
Gene Information Card
| Symbol | TUSC3 |
|---|---|
| Full Name | Tumor Suppressor Candidate 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 7991 ncbi.nlm.nih.gov/gene/7991 |
| Ensembl ID | ENSG00000104738 |
| UniProt ID | Q13454 |
| OMIM ID | 601385 |
| HGNC ID | 12426 |
| Aliases | N33, MRT7, MAGT1, OST3A |
Description
TUSC3 (Tumor Suppressor Candidate 3) encodes a subunit of the oligosaccharyltransferase (OST) complex, which catalyzes N-linked glycosylation of proteins in the endoplasmic reticulum. It also functions as a magnesium transporter. Loss of TUSC3 expression is associated with tumor suppression defects, and mutations cause autosomal recessive non-syndromic intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-syndromic intellectual disability (MRT7) | Loss-of-function mutations impair N-glycosylation and magnesium homeostasis in neurons | OMIM #601385 |
| Prostate cancer | Epigenetic silencing or loss of heterozygosity at 8p22 reduces tumor suppressor activity | NCBI Gene; COSMIC |
| Glioma | Downregulation of TUSC3 correlates with poor prognosis and increased proliferation | NCBI Gene; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Prostate | 12.8 | Medium |
| Testis | 10.5 | Medium |
| Kidney | 8.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Embryonic kidney; moderate expression |
| HeLa | 11.5 | Cervical carcinoma; moderate expression |
| PC3 | 6.2 | Prostate cancer; low expression |
| U87MG | 4.8 | Glioblastoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307C>T (p.Arg103*) | Nonsense | Rare | Loss of function; truncation of OST subunit |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Impaired magnesium transport |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent TUSC3 protein, disrupting OST complex function and magnesium transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Oligosaccharyltransferase complex | • Magnesium ion transmembrane transporter activity |
| • N-linked glycosylation | • Endoplasmic reticulum membrane |
| • Protein glycosylation |
Pathways
• N-glycan biosynthesis
• Protein processing in endoplasmic reticulum
Protein Summary
TUSC3 is a 348-amino acid protein with a single transmembrane domain, localized to the endoplasmic reticulum membrane. It forms part of the OST complex (OST3/OST6 subunit family) and mediates the transfer of oligosaccharides to asparagine residues. Additionally, it functions as a magnesium transporter, regulating intracellular Mg2+ levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUSC3 Knockout HEK293 Cell Line | EDJ-KQ6157 | Human | 7991 | Details Get a Quote |
| TUSC3 Knockout A-549 Cell Line | EDJ-KQ29964 | Human | 7991 | Details Get a Quote |
| TUSC3 Knockout HCT 116 Cell Line | EDJ-KQ29965 | Human | 7991 | Details Get a Quote |
| TUSC3 Knockout HeLa Cell Line | EDJ-KQ29966 | Human | 7991 | Details Get a Quote |
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