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

    Gene ID: 7991, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC13453, DKFZp686B22120

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001356429.2NP_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:54342
      OST3_OST6; OST3 / OST6 family, transporter family
    2. NM_001413583.1NP_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_001413669.1NP_001400598.1  tumor suppressor candidate 3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    4. NM_001413670.1NP_001400599.1  tumor suppressor candidate 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    5. NM_001413671.1NP_001400600.1  tumor suppressor candidate 3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
      Related
      ENSP00000426880.2, ENST00000511783.2
    6. NM_001413672.1NP_001400601.1  tumor suppressor candidate 3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    7. NM_001413673.1NP_001400602.1  tumor suppressor candidate 3 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    8. NM_001413674.1NP_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_001413675.1NP_001400604.1  tumor suppressor candidate 3 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    10. NM_001413676.1NP_001400605.1  tumor suppressor candidate 3 isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
      Related
      ENSP00000426973.1, ENST00000510836.5
    11. NM_001413677.1NP_001400606.1  tumor suppressor candidate 3 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    12. NM_001413678.1NP_001400607.1  tumor suppressor candidate 3 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    13. NM_001413679.1NP_001400608.1  tumor suppressor candidate 3 isoform 12 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    14. NM_001413680.1NP_001400609.1  tumor suppressor candidate 3 isoform 13 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    15. NM_001413681.1NP_001400610.1  tumor suppressor candidate 3 isoform 14 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC091559, AC100850
    16. NM_001413682.1NP_001400611.1  tumor suppressor candidate 3 isoform 15 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    17. NM_001413683.1NP_001400612.1  tumor suppressor candidate 3 isoform 16 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    18. NM_001413684.1NP_001400613.1  tumor suppressor candidate 3 isoform 17 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    19. NM_001413685.1NP_001400614.1  tumor suppressor candidate 3 isoform 18 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    20. NM_001413686.1NP_001400615.1  tumor suppressor candidate 3 isoform 19 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    21. NM_001413687.1NP_001400616.1  tumor suppressor candidate 3 isoform 20 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC091559
    22. NM_001413688.1NP_001400617.1  tumor suppressor candidate 3 isoform 21 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC091559, AC100850
    23. NM_001413689.1NP_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_001413690.1NP_001400619.1  tumor suppressor candidate 3 isoform 22 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010656, AC019292, AC091559
    25. NM_001413691.1NP_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_006765.4NP_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:54342
      OST3_OST6; OST3 / OST6 family, transporter family
    27. NM_178234.2NP_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:54342
      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_047422264.1XP_047278220.1  tumor suppressor candidate 3 isoform X2

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

    3. XM_047422263.1XP_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_054361278.1XP_054217253.1  tumor suppressor candidate 3 isoform X2

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

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