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    TUSC3 tumor suppressor candidate 3 [ Homo sapiens (human) ]

    Gene ID: 7991, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TUSC3provided by HGNC
    Official Full Name
    tumor suppressor candidate 3provided by HGNC
    Primary source
    HGNC:HGNC:30242
    See related
    Ensembl:ENSG00000104723 MIM:601385; AllianceGenome:HGNC:30242
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    M33; N33; MRT7; MRT22; MagT2; OST3A; D8S1992; SLC58A2
    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]
    Expression
    Broad expression in placenta (RPKM 11.3), adrenal (RPKM 9.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TUSC3 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (15417188..15852091)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (15683250..16118387)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (15274697..15709600)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene sarcoglycan zeta Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:14345650-14346402 Neighboring gene NANOG hESC enhancer GRCh37_chr8:14422792-14423293 Neighboring gene RNA, U6 small nuclear 397, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:14530452-14530953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:14530954-14531454 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:14660111-14660843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:14660844-14661575 Neighboring gene microRNA 383 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:14995205-14995705 Neighboring gene MPRA-validated peak6913 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:15041688-15042887 Neighboring gene uncharacterized LOC124902059 Neighboring gene uncharacterized LOC124902060 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:15341225-15341416 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:15391286-15391499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:15419296-15419883 Neighboring gene NANOG hESC enhancer GRCh37_chr8:15427981-15428523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:15473840-15474340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:15483787-15484472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:15484634-15485197 Neighboring gene clathrin light chain A pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr8:15714775-15714991 Neighboring gene MPRA-validated peak6918 silencer Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1A pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:15851888-15852590 Neighboring gene ribosomal protein L32 pseudogene 19 Neighboring gene macrophage scavenger receptor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient. Loddo S, et al. Am J Med Genet A, 2013 Aug. PMID 23825019
    2. Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. Al-Amri A, et al. Am J Med Genet A, 2016 Jul. PMID 27148795
    3. Decreased TUSC3 Promotes Pancreatic Cancer Proliferation, Invasion and Metastasis. Fan X, et al. PLoS One, 2016. PMID 26871953, Free PMC Article
    4. Decreased Tumor Suppressor Candidate 3 Predicts Poor Prognosis of Patients with Esophageal Squamous Cell Carcinoma. Yu X, et al. Int J Med Sci, 2016. PMID 27994502, Free PMC Article
    5. Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of China. Zhang MJ, et al. Genet Mol Res, 2015 May 12. PMID 25966277

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of TUSC3 promotes EMT and hepatocellular carcinoma progression through LIPC/AKT axis.
      Title: Downregulation of TUSC3 promotes EMT and hepatocellular carcinoma progression through LIPC/AKT axis.
    2. TUSC3 inhibits cell proliferation and invasion in cervical squamous cell carcinoma via suppression of the AKT signalling pathway.
      Title: TUSC3 inhibits cell proliferation and invasion in cervical squamous cell carcinoma via suppression of the AKT signalling pathway.
    3. Concentrations of persistent organic pollutants in maternal plasma and epigenome-wide placental DNA methylation.
      Title: Concentrations of persistent organic pollutants in maternal plasma and epigenome-wide placental DNA methylation.
    4. Tumour suppressor candidate 3 inhibits biological function and increases endoplasmic reticulum stress of melanoma cells WM451 by regulating AKT/GSK3-beta/beta-catenin pathway.
      Title: Tumour suppressor candidate 3 inhibits biological function and increases endoplasmic reticulum stress of melanoma cells WM451 by regulating AKT/GSK3-β/β-catenin pathway.
    5. TUSC3 induces drug resistance and cellular stemness via Hedgehog signaling pathway in colorectal cancer.
      Title: TUSC3 induces drug resistance and cellular stemness via Hedgehog signaling pathway in colorectal cancer.
    6. UHRF1-KAT7-mediated regulation of TUSC3 expression via histone methylation/acetylation is critical for the proliferation of colon cancer cells.
      Title: UHRF1-KAT7-mediated regulation of TUSC3 expression via histone methylation/acetylation is critical for the proliferation of colon cancer cells.
    7. TUSC3 accelerates cancer growth and induces the epithelial-mesenchymal transition in non-small-cell lung cancer cells by upregulating claudin-1.
      Title: TUSC3 accelerates cancer growth and induces epithelial-mesenchymal transition by upregulating claudin-1 in non-small-cell lung cancer cells.
    8. miR-UL112-3p exerts its oncogene function by directly targeting TUSC3 in Glioblastoma.
      Title: HCMV-encoded miR-UL112-3p promotes glioblastoma progression via tumour suppressor candidate 3.
    9. study demonstrated an oncogenic role of TUSC3 in Non-small cell lung cancer and showed that dis-regulation of TUSC3 may affect tumour cell invasion and migration through possible involvement in the Hedgehog (Hh) signalling pathway.
      Title: Oncogenic function of TUSC3 in non-small cell lung cancer is associated with Hedgehog signalling pathway.
    10. TUSC3 may act as an oncogene in the progression of colorectal cancer.
      Title: Expression of TUSC3 and its prognostic significance in colorectal cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (34)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog
    Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia.
    EBI GWAS Catalog
    Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TUSC3; predicted interaction to be within the endoplasmic reticulum PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC13453, DKFZp686B22120

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables magnesium ion transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables magnesium ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in magnesium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT involved_in magnesium ion transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in magnesium ion transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in magnesium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation via asparagine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein N-linked glycosylation via asparagine IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of oligosaccharyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of oligosaccharyltransferase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    tumor suppressor candidate 3
    Names
    dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3
    magnesium uptake/transporter TUSC3
    oligosaccharyl transferase subunit TUSC3
    oligosaccharyltransferase 3 homolog A
    putative prostate cancer tumor suppressor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012141.2 RefSeqGene

      Range
      5043..231418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001356429.2 → NP_001343358.1  tumor suppressor candidate 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate terminal exon in the 3' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (a).
      Source sequence(s)
      AC010656, AC019292, AC091559, AK026149
      Consensus CDS
      CCDS5994.1
      UniProtKB/Swiss-Prot
      A8MSM0, D3DSP2, Q13454, Q14911, Q14912, Q96FW0
      UniProtKB/TrEMBL
      A0A0A0MTC2
      Conserved Domains (1) summary
      pfam04756
      Location:54 → 342
      OST3_OST6; OST3 / OST6 family, transporter family

    2. NM_001413583.1 → NP_001400512.1  tumor suppressor candidate 3 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
      UniProtKB/Swiss-Prot
      A8MSM0, D3DSP2, Q13454, Q14911, Q14912, Q96FW0

    3. NM_001413669.1 → NP_001400598.1  tumor suppressor candidate 3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    4. NM_001413670.1 → NP_001400599.1  tumor suppressor candidate 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    5. NM_001413671.1 → NP_001400600.1  tumor suppressor candidate 3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
      Related
      ENSP00000426880.2, ENST00000511783.2

    6. NM_001413672.1 → NP_001400601.1  tumor suppressor candidate 3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    7. NM_001413673.1 → NP_001400602.1  tumor suppressor candidate 3 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    8. NM_001413674.1 → NP_001400603.1  tumor suppressor candidate 3 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
      UniProtKB/TrEMBL
      D6RIY7
      Related
      ENSP00000425777.1, ENST00000506802.5

    9. NM_001413675.1 → NP_001400604.1  tumor suppressor candidate 3 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    10. NM_001413676.1 → NP_001400605.1  tumor suppressor candidate 3 isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
      Related
      ENSP00000426973.1, ENST00000510836.5

    11. NM_001413677.1 → NP_001400606.1  tumor suppressor candidate 3 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    12. NM_001413678.1 → NP_001400607.1  tumor suppressor candidate 3 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    13. NM_001413679.1 → NP_001400608.1  tumor suppressor candidate 3 isoform 12 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    14. NM_001413680.1 → NP_001400609.1  tumor suppressor candidate 3 isoform 13 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    15. NM_001413681.1 → NP_001400610.1  tumor suppressor candidate 3 isoform 14 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC091559, AC100850

    16. NM_001413682.1 → NP_001400611.1  tumor suppressor candidate 3 isoform 15 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    17. NM_001413683.1 → NP_001400612.1  tumor suppressor candidate 3 isoform 16 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    18. NM_001413684.1 → NP_001400613.1  tumor suppressor candidate 3 isoform 17 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    19. NM_001413685.1 → NP_001400614.1  tumor suppressor candidate 3 isoform 18 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    20. NM_001413686.1 → NP_001400615.1  tumor suppressor candidate 3 isoform 19 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    21. NM_001413687.1 → NP_001400616.1  tumor suppressor candidate 3 isoform 20 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC091559

    22. NM_001413688.1 → NP_001400617.1  tumor suppressor candidate 3 isoform 21 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC091559, AC100850

    23. NM_001413689.1 → NP_001400618.1  tumor suppressor candidate 3 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
      UniProtKB/Swiss-Prot
      A8MSM0, D3DSP2, Q13454, Q14911, Q14912, Q96FW0

    24. NM_001413690.1 → NP_001400619.1  tumor suppressor candidate 3 isoform 22 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    25. NM_001413691.1 → NP_001400620.1  tumor suppressor candidate 3 isoform 23 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
      UniProtKB/TrEMBL
      D6RA37
      Related
      ENSP00000423426.1, ENST00000509380.5

    26. NM_006765.4 → NP_006756.2  tumor suppressor candidate 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_006756.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AC019292, AI366810, DA796279, U42349
      Consensus CDS
      CCDS5994.1
      UniProtKB/Swiss-Prot
      A8MSM0, D3DSP2, Q13454, Q14911, Q14912, Q96FW0
      UniProtKB/TrEMBL
      A0A0A0MTC2
      Related
      ENSP00000424544.1, ENST00000503731.6
      Conserved Domains (1) summary
      pfam04756
      Location:54 → 342
      OST3_OST6; OST3 / OST6 family, transporter family

    27. NM_178234.2 → NP_839952.1  tumor suppressor candidate 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_839952.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' region compared to variant 1. The resulting isoform (b) contains a one aa shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC019292, AI366810, BC010370, DA796279
      Consensus CDS
      CCDS5993.1
      UniProtKB/TrEMBL
      A0A0A0MTC2
      Related
      ENSP00000371450.4, ENST00000382020.8
      Conserved Domains (1) summary
      pfam04756
      Location:54 → 342
      OST3_OST6; OST3 / OST6 family, transporter family

    RNA

    1. NR_182195.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    2. NR_182196.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    3. NR_182197.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    4. NR_182198.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    5. NR_182199.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      15417188..15852091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422264.1 → XP_047278220.1  tumor suppressor candidate 3 isoform X2

    2. XM_047422265.1 → XP_047278221.1  tumor suppressor candidate 3 isoform X3

    3. XM_047422263.1 → XP_047278219.1  tumor suppressor candidate 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      15683250..16118387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361278.1 → XP_054217253.1  tumor suppressor candidate 3 isoform X2

    2. XM_054361279.1 → XP_054217254.1  tumor suppressor candidate 3 isoform X3

    3. XM_054361277.1 → XP_054217252.1  tumor suppressor candidate 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13454.1 GenPept UniProtKB/Swiss-Prot:Q13454

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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