TUSC3 - tumor suppressor candidate 3 Gene
Also Known as M33; N33; MRT7; MRT22; MagT2; OST3A; D8S1992; SLC58A2
Species: Homo sapiens
About TUSC3
This gene has 13 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in placenta (RPKM 11.3), adrenal (RPKM 9.7) and 23 other tissues.
Summary
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]
TUSC3 Products (27)
| mRNA | Protein | Name |
|---|---|---|
| NM_001356429.2 | NP_001343358.1 | tumor suppressor candidate 3 isoform 1 precursor |
| NM_001413583.1 | NP_001400512.1 | tumor suppressor candidate 3 isoform 1 precursor |
| NM_001413669.1 | NP_001400598.1 | tumor suppressor candidate 3 isoform 4 |
| NM_001413670.1 | NP_001400599.1 | tumor suppressor candidate 3 isoform 5 |
| NM_001413671.1 | NP_001400600.1 | tumor suppressor candidate 3 isoform 3 |
| NM_001413672.1 | NP_001400601.1 | tumor suppressor candidate 3 isoform 4 |
| NM_001413673.1 | NP_001400602.1 | tumor suppressor candidate 3 isoform 6 precursor |
| NM_001413674.1 | NP_001400603.1 | tumor suppressor candidate 3 isoform 7 precursor |
| NM_001413675.1 | NP_001400604.1 | tumor suppressor candidate 3 isoform 8 precursor |
| NM_001413676.1 | NP_001400605.1 | tumor suppressor candidate 3 isoform 9 precursor |
| NM_001413677.1 | NP_001400606.1 | tumor suppressor candidate 3 isoform 10 |
| NM_001413678.1 | NP_001400607.1 | tumor suppressor candidate 3 isoform 11 |
| NM_001413679.1 | NP_001400608.1 | tumor suppressor candidate 3 isoform 12 precursor |
| NM_001413680.1 | NP_001400609.1 | tumor suppressor candidate 3 isoform 13 precursor |
| NM_001413681.1 | NP_001400610.1 | tumor suppressor candidate 3 isoform 14 precursor |
| NM_001413682.1 | NP_001400611.1 | tumor suppressor candidate 3 isoform 15 precursor |
| NM_001413683.1 | NP_001400612.1 | tumor suppressor candidate 3 isoform 16 precursor |
| NM_001413684.1 | NP_001400613.1 | tumor suppressor candidate 3 isoform 17 precursor |
| NM_001413685.1 | NP_001400614.1 | tumor suppressor candidate 3 isoform 18 precursor |
| NM_001413686.1 | NP_001400615.1 | tumor suppressor candidate 3 isoform 19 precursor |
| NM_001413687.1 | NP_001400616.1 | tumor suppressor candidate 3 isoform 20 precursor |
| NM_001413688.1 | NP_001400617.1 | tumor suppressor candidate 3 isoform 21 precursor |
| NM_001413689.1 | NP_001400618.1 | tumor suppressor candidate 3 isoform 1 precursor |
| NM_001413690.1 | NP_001400619.1 | tumor suppressor candidate 3 isoform 22 precursor |
| NM_001413691.1 | NP_001400620.1 | tumor suppressor candidate 3 isoform 23 precursor |
| NM_006765.4 | NP_006756.2 | tumor suppressor candidate 3 isoform 1 precursor |
| NM_178234.2 | NP_839952.1 | tumor suppressor candidate 3 isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables magnesium ion transmembrane transporter activity |
IMP
IMP: Inferred from mutant phenotype
|
19717468 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cognition |
IMP
IMP: Inferred from mutant phenotype
|
18455129 | GOA |
| NOT involved in magnesium ion transport |
IGI
IGI: Inferred from genetic interaction
|
19717468 | GOA |
| involved in magnesium ion transport |
IGI
IGI: Inferred from genetic interaction
|
19717468 | GOA |
| involved in magnesium ion transport |
IMP
IMP: Inferred from mutant phenotype
|
19717468 | GOA |
| involved in protein N-linked glycosylation via asparagine |
IMP
IMP: Inferred from mutant phenotype
|
26864433 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of oligosaccharyltransferase complex |
IDA
IDA: Inferred from direct assay
|
15835887 | GOA |
TUSC3 Protein Structure
Thioredoxin: Thioredoxin (68 - 161)
OST3_OST6: OST3 / OST6 family, transporter family (177 - 328)
- 0
- 100
- 200
- 300
- 348 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tumor suppressor candidate 3 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Intellectual Developmental Disorder, Autosomal Recessive 7 |
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| Autosomal Recessive Non-Syndromic Intellectual Disability |
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| Congenital Disorder Of Glycosylation, Type In |
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| Pharynx Squamous Cell Carcinoma |
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| Hypermethioninemia Due To Adenosine Kinase Deficiency |
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| Congenital Nervous System Abnormality |
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| Nervous System Disease |
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| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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| Autosomal Recessive Intellectual Developmental Disorder |
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| Pancreatic Cancer |
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| Ovarian Cancer |
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| Glioblastoma |
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| Prostate Cancer |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | TUSC3 | MGD | MGI:1933134 |
| Macaca mulatta | TUSC3 | VGNC | VGNC:84132 |
| Canis familiaris | TUSC3 | VGNC | VGNC:56082 |
| Rattus norvegicus | TUSC3 | RGD | RGD:1303318 |
| Felis catus | TUSC3 | VGNC | VGNC:80096 |
| Others | TUSC3 | NCBI |