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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 (Tumor Suppressor Candidate 3) is a Protein Coding gene. Diseases associated with TUSC3 include Autosomal Recessive Non-Syndromic Intellectual Disability and Congenital Disorder Of Glycosylation, Type In. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include magnesium ion transmembrane transporter activity and dolichyl-diphosphooligosaccharide-protein glycotransferase activity. An important paralog of this gene is MAGT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015095 | magnesium ion transmembrane transporter activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | ISS | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | NAS | 19717468 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | N-Glycan biosynthesis | ||
2 | Metabolism of proteins | ||
3 | Metabolism | ||
4 | Protein processing in endoplasmic reticulum | ||
5 | Transport to the Golgi and subsequent modification |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006487 | protein N-linked glycosylation | NAS | 18455129 |
GO:0015693 | magnesium ion transport | IMP | 19717468 |
GO:0018279 | protein N-linked glycosylation via asparagine | IBA,TAS | -- |
GO:0050890 | cognition | IMP | 18455129 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TUSC3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TUSC3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TUSC3 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TUSC3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tusc3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tusc3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TUSC3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TUSC3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TUSC3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tusc3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.19274 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | TUSC3 (2 of 2) 31 |
|
OneToMany | |
TUSC3 (1 of 2) 31 |
|
OneToMany | |||
tusc3 30 |
|
||||
Dr.12544 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ostgamma 30 |
|
||
CG7830 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010010 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | ZK686.3 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C13904g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | OST3 30 31 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER413C 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10969 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03995 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAPB17E12.11 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718019 | Likely Benign: not provided | 15,743,528(+) | A/C | INTRON_VARIANT | |
725067 | Likely Benign: not provided | 15,659,542(+) | T/C | SYNONYMOUS_VARIANT | |
727158 | Likely Benign: not provided | 15,659,584(+) | C/G | SYNONYMOUS_VARIANT | |
734609 | Likely Benign: not provided | 15,757,787(+) | A/G | INTRON_VARIANT | |
737155 | Likely Benign: not provided | 15,540,535(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal recessive non-syndromic intellectual disability |
|
|
congenital disorder of glycosylation, type in |
|
|
hypermethioninemia due to adenosine kinase deficiency |
|
|
pharynx squamous cell carcinoma |
|
|
deafness, autosomal recessive 71 |
|
|