AlphaFold predicted structure
TUSC3 · Q13454
Mean pLDDT
84.8/ 100
Confident
348 residues
Confidence breakdown
- Very high(≥ 90)56%
- Confident(70–90)31%
- Low(50–70)6%
- Very low(< 50)7%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TUSC3
Chr 8p22tumor suppressor candidate 3
- Aliases:
- MGC13453, N33, OST3A, MRT7, MagT2
- MANE:
- ENST00000503731.6
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
autosomal recessive non-syndromic intellectual disability
0.65dengue disease
0.50Intellectual disability
0.50hereditary disease
0.49Abnormality of the skeletal system
0.43COVID-19
0.37conduction system disorder
0.33intelligence
0.30ovarian neoplasm
0.30placenta praevia
0.29
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3
Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Also has oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition. Could indirectly play a role in Mg(2+) transport (PubMed:19717468)
Diseases associated with TUSC3
Curated MONDO disease pages that list TUSC3 among their top associated genes.