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

Gene ID: 7991, updated on 3-Apr-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
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Genomic context

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Location:
8p22
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (15417188..15852091)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (15683250..16118387)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (15397596..15624158)

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
  • 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. TUSC3 inhibits cell proliferation and invasion in cervical squamous cell carcinoma via suppression of the AKT signalling pathway. Sun F, et al. J Cell Mol Med, 2022 Mar. PMID 35137520, Free PMC Article
  2. Concentrations of persistent organic pollutants in maternal plasma and epigenome-wide placental DNA methylation. Ouidir M, et al. Clin Epigenetics, 2020 Jul 11. PMID 32653021, Free PMC Article
  3. TUSC3 induces drug resistance and cellular stemness via Hedgehog signaling pathway in colorectal cancer. Ren Y, et al. Carcinogenesis, 2020 Dec 31. PMID 32338281
  4. Tumour suppressor candidate 3 inhibits biological function and increases endoplasmic reticulum stress of melanoma cells WM451 by regulating AKT/GSK3-β/β-catenin pathway. Wang S, et al. Cell Biochem Funct, 2020 Jul. PMID 32090352
  5. Expression of TUSC3 and its prognostic significance in colorectal cancer. Zhu YF, et al. Pathol Res Pract, 2018 Sep. PMID 30115537

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
  
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_2023_10

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

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