Human Gene TUSC3 (ENST00000382020.8) from GENCODE V44
Description: Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 2, mRNA. (from RefSeq NM_178234) RefSeq Summary (NM_178234): 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]. Gencode Transcript: ENST00000382020.8 Gencode Gene: ENSG00000104723.21 Transcript (Including UTRs) Position: hg38 chr8:15,540,223-15,766,649 Size: 226,427 Total Exon Count: 10 Strand: + Coding Region Position: hg38 chr8:15,540,431-15,764,218 Size: 223,788 Coding Exon Count: 10
ID:TUSC3_HUMAN DESCRIPTION: RecName: Full=Tumor suppressor candidate 3; AltName: Full=Magnesium uptake/transporter TUSC3; AltName: Full=Protein N33; Flags: Precursor; FUNCTION: Magnesium transporter. May be involved in N- glycosylation through its association with N-oligosaccharyl transferase. SUBUNIT: Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B (By similarity). SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable). TISSUE SPECIFICITY: Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas. DISEASE: Defects in TUSC3 are the cause of mental retardation autosomal recessive type 7 (MRT7) [MIM:611093]; also known as mental retardation non-syndromic autosomal recessive 7. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non- syndromic mental retardation patients do not manifest other clinical signs. SIMILARITY: Belongs to the OST3/OST6 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13454
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006486 protein glycosylation GO:0006487 protein N-linked glycosylation GO:0015693 magnesium ion transport GO:0018279 protein N-linked glycosylation via asparagine GO:0050890 cognition GO:0055085 transmembrane transport GO:1903830 magnesium ion transmembrane transport
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00510 - N-Glycan biosynthesis hsa01100 - Metabolic pathways
Reactome (by CSHL, EBI, and GO)
Protein Q13454 (Reactome details) participates in the following event(s):
R-HSA-5339528 TUSC3 transports Mg2+ from extracellular region to cytosol R-HSA-446209 Transfer of N-glycan to the protein R-HSA-5223345 Miscellaneous transport and binding events R-HSA-446203 Asparagine N-linked glycosylation R-HSA-382551 Transport of small molecules R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins