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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:15,540,223-15,766,649)mRNA (may differ from genome)Protein (347 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TUSC3
Diseases sorted by gene-association score: autosomal recessive non-syndromic intellectual disability* (164), syndromic intellectual disability (5), prostate cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.66 RPKM in Pituitary
Total median expression: 411.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -106.50208-0.512 Picture PostScript Text
3' UTR -529.002431-0.218 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006844 - Mg_transporter-1
IPR021149 - OligosaccharylTrfase_OST3/OST6
IPR012336 - Thioredoxin-like_fold
IPR013766 - Thioredoxin_domain

Pfam Domains:
PF04756 - OST3 / OST6 family, transporter family
PF00085 - Thioredoxin

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015095 magnesium ion transmembrane transporter activity
GO:0004579 dolichyl-diphosphooligosaccharide-protein glycotransferase activity

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

Cellular Component:
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008250 oligosaccharyltransferase complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC010370 - Homo sapiens tumor suppressor candidate 3, mRNA (cDNA clone MGC:13453 IMAGE:4334284), complete cds.
U42349 - Human N33 mRNA, complete cds.
DQ892936 - Synthetic construct clone IMAGE:100005566; FLH190988.01X; RZPDo839G0276D tumor suppressor candidate 3 (TUSC3) gene, encodes complete protein.
DQ896185 - Synthetic construct Homo sapiens clone IMAGE:100010645; FLH190984.01L; RZPDo839G0266D tumor suppressor candidate 3 (TUSC3) gene, encodes complete protein.
KJ892459 - Synthetic construct Homo sapiens clone ccsbBroadEn_01853 TUSC3 gene, encodes complete protein.
BT020002 - Homo sapiens Putative prostate cancer tumor suppressor mRNA, complete cds.
JD546766 - Sequence 527790 from Patent EP1572962.
JD310288 - Sequence 291312 from Patent EP1572962.
JD519012 - Sequence 500036 from Patent EP1572962.
JD476306 - Sequence 457330 from Patent EP1572962.
JD019337 - Sequence 361 from Patent EP1572962.
JD028723 - Sequence 9747 from Patent EP1572962.
AY562998 - Homo sapiens tumor suppressor candidate 3 isoform a (TUSC3) mRNA, partial cds, alternatively spliced.
AY562999 - Homo sapiens tumor suppressor candidate 3 isoform b (TUSC3) mRNA, partial cds, alternatively spliced.
AY530159 - Homo sapiens tumor suppressor candidate 3 (TUSC3) mRNA, partial cds; alternatively spliced.
AF028729 - Homo sapiens hypoxia-regulated factor-2 (HRF2) mRNA, 3' end.
BX641112 - Homo sapiens mRNA; cDNA DKFZp686B22120 (from clone DKFZp686B22120).

-  Biochemical and Signaling Pathways
  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

-  Other Names for This Gene
  Alternate Gene Symbols: A8MSM0, D3DSP2, ENST00000382020.1, ENST00000382020.2, ENST00000382020.3, ENST00000382020.4, ENST00000382020.5, ENST00000382020.6, ENST00000382020.7, N33, NM_178234, Q13454, Q14911, Q14912, Q96FW0, TUSC3_HUMAN, uc003wwu.1, uc003wwu.2, uc003wwu.3, uc003wwu.4
UCSC ID: ENST00000382020.8
RefSeq Accession: NM_178234
Protein: Q13454 (aka TUSC3_HUMAN or TUS3_HUMAN)
CCDS: CCDS5993.1, CCDS5994.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TUSC3:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.