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

Gene ID: 7991, updated on 8-Feb-2025

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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3; tumor suppressor candidate 3
Names
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_001356429.2NP_001343358.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 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  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/Swiss-Prot
    A8MSM0, D3DSP2, Q13454, Q14911, Q14912, Q96FW0
    UniProtKB/TrEMBL
    A0A0A0MTC2
  3. NM_001413669.1NP_001400598.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    A0A0A0MTC2
  4. NM_001413670.1NP_001400599.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    A0A0A0MTC2
  5. NM_001413671.1NP_001400600.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    A0A0A0MTC2
    Related
    ENSP00000426880.2, ENST00000511783.2
  6. NM_001413672.1NP_001400601.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    A0A0A0MTC2
  7. NM_001413673.1NP_001400602.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    A0A0A0MTC2
  8. NM_001413674.1NP_001400603.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    D6RDV0, D6RIY7
    Related
    ENSP00000425777.1, ENST00000506802.5
  9. NM_001413675.1NP_001400604.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    D6RDV0
  10. NM_001413676.1NP_001400605.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    D6RDV0
    Related
    ENSP00000426973.1, ENST00000510836.5
  11. NM_001413677.1NP_001400606.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
  12. NM_001413678.1NP_001400607.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
  13. NM_001413679.1NP_001400608.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 12 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
  14. NM_001413680.1NP_001400609.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 13 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
  15. NM_001413681.1NP_001400610.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 14 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC091559, AC100850
    UniProtKB/TrEMBL
    D6RDV0
  16. NM_001413682.1NP_001400611.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 15 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    D6RDV0
  17. NM_001413683.1NP_001400612.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 16 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    A0A0A0MTC2
  18. NM_001413684.1NP_001400613.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 17 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
  19. NM_001413685.1NP_001400614.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 18 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    D6RDV0
  20. NM_001413686.1NP_001400615.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 19 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    A0A0A0MTC2
  21. NM_001413687.1NP_001400616.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 20 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC091559
    UniProtKB/TrEMBL
    D6RDV0
  22. NM_001413688.1NP_001400617.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 21 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC091559, AC100850
    UniProtKB/TrEMBL
    D6RDV0
  23. NM_001413689.1NP_001400618.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/Swiss-Prot
    A8MSM0, D3DSP2, Q13454, Q14911, Q14912, Q96FW0
    UniProtKB/TrEMBL
    A0A0A0MTC2
  24. NM_001413690.1NP_001400619.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 22 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    A0A0A0MTC2
  25. NM_001413691.1NP_001400620.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 23 precursor

    Status: REVIEWED

    Source sequence(s)
    AC010656, AC019292, AC091559
    UniProtKB/TrEMBL
    D6RA37, D6RDV0
    Related
    ENSP00000423426.1, ENST00000509380.5
  26. NM_006765.4NP_006756.2  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 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  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 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

    UniProtKB/TrEMBL
    A0A0A0MTC2
  2. XM_047422265.1XP_047278221.1  tumor suppressor candidate 3 isoform X3

    UniProtKB/TrEMBL
    A0A0A0MTC2
  3. XM_047422263.1XP_047278219.1  tumor suppressor candidate 3 isoform X1

    UniProtKB/TrEMBL
    A0A0A0MTC2

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

    UniProtKB/TrEMBL
    A0A0A0MTC2
  2. XM_054361279.1XP_054217254.1  tumor suppressor candidate 3 isoform X3

    UniProtKB/TrEMBL
    A0A0A0MTC2
  3. XM_054361277.1XP_054217252.1  tumor suppressor candidate 3 isoform X1

    UniProtKB/TrEMBL
    A0A0A0MTC2