Format

Send to:

Choose Destination

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

Gene ID: 7991, updated on 3-Jan-2019

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
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
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

Genomic context

See TUSC3 in Genome Data Viewer
Location:
8p22
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (15540087..15766649)
105 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 RNA, U6 small nuclear 397, pseudogene Neighboring gene microRNA 383 Neighboring gene clathrin light chain A pseudogene Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1A pseudogene 1 Neighboring gene ribosomal protein L32 pseudogene 19

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13453, DKFZp686B22120

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
magnesium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
magnesium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein N-linked glycosylation NAS
Non-traceable Author Statement
more info
PubMed 
protein N-linked glycosylation via asparagine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein N-linked glycosylation via asparagine IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein N-linked glycosylation via asparagine ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
oligosaccharyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligosaccharyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    4867..231429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001356429.1NP_001343358.1  tumor suppressor candidate 3 isoform a 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
    Conserved Domains (1) summary
    pfam04756
    Location:54342
    OST3_OST6; OST3 / OST6 family, transporter family
  2. NM_006765.3NP_006756.2  tumor suppressor candidate 3 isoform a 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
    Q13454
    Related
    ENSP00000424544.1, ENST00000503731.5
    Conserved Domains (1) summary
    pfam04756
    Location:54342
    OST3_OST6; OST3 / OST6 family, transporter family
  3. NM_178234.2NP_839952.1  tumor suppressor candidate 3 isoform b 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/Swiss-Prot
    Q13454
    Related
    ENSP00000371450.4, ENST00000382020.8
    Conserved Domains (1) summary
    pfam04756
    Location:54342
    OST3_OST6; OST3 / OST6 family, transporter family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    15540087..15766649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013861.2XP_016869350.1  tumor suppressor candidate 3 isoform X2

    Related
    ENSP00000426880.2, ENST00000511783.2
    Conserved Domains (1) summary
    pfam04756
    Location:1286
    OST3_OST6; OST3 / OST6 family, transporter family
  2. XM_011544651.3XP_011542953.1  tumor suppressor candidate 3 isoform X1

    Conserved Domains (2) summary
    pfam04756
    Location:123267
    OST3_OST6; OST3 / OST6 family
    cl00388
    Location:17127
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
Support Center