TUSC3 Gene Summary [Human]
This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]
Details
| Type | Processed Transcript |
| Official Symbol | TUSC3 |
| Official Name | tumor suppressor candidate 3 [Source:HGNC Symbol;Acc:HGNC:30242] |
| Ensembl ID | ENSG00000104723 |
| Bio databases IDs | |
| Aliases | tumor suppressor candidate 3, oligosaccharyltransferase 3 homolog A (S. cerevisiae), Magnesium uptake/transporter TUSC3 |
| Synonyms | D8S1992, LOC124902061, M33, MagT2, MRT22, MRT7, N33, OST3A, SLC58A2, tumor suppressor candidate 3, tumour suppressor candidate 3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TUSC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- magnesium ion transporter
- OST3 / OST6 family, transporter family
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- metabolic syndrome X
- autosomal recessive mental retardation type 7
- ETV6-RUNX1 positive B-lineage acute lymphoblastic leukemia
- hepatocellular carcinoma
- liver cancer
- mental retardation
- diabetic nephropathy
- autosomal recessive mental retardation
- hereditary disorder
role in cell
- migration
- growth
- expression in
- proliferation
- phosphorylation in
- apoptosis
- epithelial-mesenchymal transition
- N-glycosylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cellular membrane
- Mitochondria
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TUSC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- cognition
- magnesium ion transport
- protein N-linked glycosylation
- protein N-linked glycosylation via asparagine
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- oligosaccharyltransferase complex
- mitochondrion
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- magnesium ion transmembrane transporter activity