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Aliases for TUSC3 Gene

Aliases for TUSC3 Gene

  • Tumor Suppressor Candidate 3 2 3 5
  • Magnesium Uptake/Transporter TUSC3 2 3 4
  • N33 3 4
  • Oligosaccharyltransferase 3 Homolog A (S. Cerevisiae) 2
  • Putative Prostate Cancer Tumor Suppressor 3
  • Oligosaccharyltransferase 3 Homolog A 3
  • Protein N33 4
  • D8S1992 3
  • MRT22 3
  • OST3A 3
  • MRT7 3
  • M33 3

External Ids for TUSC3 Gene

Previous GeneCards Identifiers for TUSC3 Gene

  • GC08P015408
  • GC08P015442
  • GC08P015274
  • GC08P013941

Summaries for TUSC3 Gene

Entrez Gene Summary for TUSC3 Gene

  • This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TUSC3 Gene

TUSC3 (Tumor Suppressor Candidate 3) is a Protein Coding gene. Diseases associated with TUSC3 include Autosomal Recessive Non-Syndromic Intellectual Disability and Prostate Cancer. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. GO annotations related to this gene include magnesium ion transmembrane transporter activity and dolichyl-diphosphooligosaccharide-protein glycotransferase activity. An important paralog of this gene is MAGT1.

UniProtKB/Swiss-Prot for TUSC3 Gene

  • Magnesium transporter (PubMed:19717468). May be involved in N-glycosylation through its association with N-oligosaccharyl transferase (PubMed:24685145).

Gene Wiki entry for TUSC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUSC3 Gene

Genomics for TUSC3 Gene

Regulatory Elements for TUSC3 Gene

Enhancers for TUSC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F015539 1 ENCODE 20.8 +123.4 123429 1.8 ATF1 PKNOX1 SIN3A ZNF2 ETS1 GLIS2 ELK1 KLF7 FOS SP3 TUSC3 GC08M015501 GC08M015689
GH08F015534 0.9 ENCODE 11.3 +119.5 119500 3.9 PKNOX1 INSM2 KLF17 FEZF1 ZNF366 SCRT2 KLF7 CREM SP3 OVOL3 TUSC3 GC08M015501 GC08M015689
GH08F015561 0.9 Ensembl ENCODE 11.3 +145.3 145347 1.5 CTCF ZNF654 HLF CEBPB CEBPG ZNF843 RAD21 ZFHX2 FOXK2 ZBTB48 TUSC3 GC08M015501 GC08M015689
GH08F015581 1.2 Ensembl ENCODE 7.4 +165.1 165116 1.4 PKNOX1 ATF1 ARNT GATA2 NCOA1 REST MBD2 ZNF610 SMARCA4 PBX2 TUSC3 GC08M015501 GC08M015689
GH08F015645 1 Ensembl ENCODE 8.5 +228.2 228213 2.1 CTCF ZNF654 JUN USF2 CEBPB REST EP300 RAD21 JUND ATF3 TUSC3 GC08M015689 GC08M015501
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUSC3 on UCSC Golden Path with GeneCards custom track

Genomic Location for TUSC3 Gene

Chromosome:
8
Start:
15,417,215 bp from pter
End:
15,766,649 bp from pter
Size:
349,435 bases
Orientation:
Plus strand

Genomic View for TUSC3 Gene

Genes around TUSC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUSC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUSC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUSC3 Gene

Proteins for TUSC3 Gene

  • Protein details for TUSC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13454-TUSC3_HUMAN
    Recommended name:
    Tumor suppressor candidate 3
    Protein Accession:
    Q13454
    Secondary Accessions:
    • A8MSM0
    • D3DSP2
    • Q14911
    • Q14912
    • Q96FW0

    Protein attributes for TUSC3 Gene

    Size:
    348 amino acids
    Molecular mass:
    39676 Da
    Quaternary structure:
    • Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B.

    Three dimensional structures from OCA and Proteopedia for TUSC3 Gene

    Alternative splice isoforms for TUSC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUSC3 Gene

Post-translational modifications for TUSC3 Gene

  • Ubiquitination at Lys 180
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TUSC3 Gene

Domains & Families for TUSC3 Gene

Gene Families for TUSC3 Gene

Protein Domains for TUSC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q13454

UniProtKB/Swiss-Prot:

TUSC3_HUMAN :
  • Contains 1 thioredoxin domain.
  • Belongs to the OST3/OST6 family.
Domain:
  • Contains 1 thioredoxin domain.
Family:
  • Belongs to the OST3/OST6 family.
genes like me logo Genes that share domains with TUSC3: view

Function for TUSC3 Gene

Molecular function for TUSC3 Gene

UniProtKB/Swiss-Prot Function:
Magnesium transporter (PubMed:19717468). May be involved in N-glycosylation through its association with N-oligosaccharyl transferase (PubMed:24685145).

Gene Ontology (GO) - Molecular Function for TUSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004579 contributes_to dolichyl-diphosphooligosaccharide-protein glycotransferase activity ISS --
GO:0015095 magnesium ion transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with TUSC3: view
genes like me logo Genes that share phenotypes with TUSC3: view

Human Phenotype Ontology for TUSC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TUSC3

miRNA for TUSC3 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUSC3 Gene

Localization for TUSC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUSC3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUSC3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
mitochondrion 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TUSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 19717468
genes like me logo Genes that share ontologies with TUSC3: view

Pathways & Interactions for TUSC3 Gene

genes like me logo Genes that share pathways with TUSC3: view

Interacting Proteins for TUSC3 Gene

Gene Ontology (GO) - Biological Process for TUSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006487 protein N-linked glycosylation NAS 18455129
GO:0006810 transport IEA --
GO:0015693 magnesium ion transport IMP 19717468
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0050890 cognition IMP 18455129
genes like me logo Genes that share ontologies with TUSC3: view

No data available for SIGNOR curated interactions for TUSC3 Gene

Transcripts for TUSC3 Gene

Unigene Clusters for TUSC3 Gene

Tumor suppressor candidate 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUSC3 Gene

No ASD Table

Relevant External Links for TUSC3 Gene

GeneLoc Exon Structure for
TUSC3
ECgene alternative splicing isoforms for
TUSC3

Expression for TUSC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUSC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TUSC3 Gene

This gene is overexpressed in Nasal epithelium (43.5) and Placenta (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUSC3 Gene



Protein tissue co-expression partners for TUSC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TUSC3 Gene:

TUSC3

SOURCE GeneReport for Unigene cluster for TUSC3 Gene:

Hs.426324

mRNA Expression by UniProt/SwissProt for TUSC3 Gene:

Q13454-TUSC3_HUMAN
Tissue specificity: Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas.
genes like me logo Genes that share expression patterns with TUSC3: view

No data available for mRNA differential expression in normal tissues for TUSC3 Gene

Orthologs for TUSC3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TUSC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUSC3 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia TUSC3 34 35
  • 93.53 (n)
oppossum
(Monodelphis domestica)
Mammalia TUSC3 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUSC3 34 35
  • 92.22 (n)
mouse
(Mus musculus)
Mammalia Tusc3 34 16 35
  • 90.78 (n)
rat
(Rattus norvegicus)
Mammalia Tusc3 34
  • 90.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TUSC3 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUSC3 34 35
  • 82 (n)
lizard
(Anolis carolinensis)
Reptilia TUSC3 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tusc3 34
  • 80.19 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19274 34
zebrafish
(Danio rerio)
Actinopterygii TUSC3 (2 of 2) 35
  • 95 (a)
OneToMany
TUSC3 (1 of 2) 35
  • 94 (a)
OneToMany
tusc3 34
  • 77.56 (n)
Dr.12544 34
fruit fly
(Drosophila melanogaster)
Insecta Ostgamma 34
  • 60.13 (n)
CG7830 35
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010010 34
  • 59.52 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK686.3 34 35
  • 54.5 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13904g 34
  • 45.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OST3 34 35
  • 43.73 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER413C 34
  • 42.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10969 35
  • 50 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03995 34
  • 44.82 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB17E12.11 34
  • 42.6 (n)
Species where no ortholog for TUSC3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUSC3 Gene

ENSEMBL:
Gene Tree for TUSC3 (if available)
TreeFam:
Gene Tree for TUSC3 (if available)

Paralogs for TUSC3 Gene

Paralogs for TUSC3 Gene

(1) SIMAP similar genes for TUSC3 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with TUSC3: view

Variants for TUSC3 Gene

Sequence variations from dbSNP and Humsavar for TUSC3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs200667343 Pathogenic 15,748,429(+) ACTTT(A/C/G)AATAT intron-variant, reference, stop-gained
rs387906804 Pathogenic 15,623,104(+) TAGAG(C/T)AGCTG reference, stop-gained, utr-variant-5-prime
rs587780496 Likely benign 15,748,473(+) AATAT(C/G)TTTAT intron-variant
rs11545035 Uncertain significance 15,623,134(+) GCTCA(A/G)TCTTC reference, missense
rs398124235 Uncertain significance 15,623,063(+) TAATT(-/T)CTGTG intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TUSC3 Gene

Variant ID Type Subtype PubMed ID
nsv438042 CNV loss 16468122
nsv437055 CNV loss 16327808
nsv433246 CNV loss 18776910
nsv1161736 CNV deletion 26073780
nsv1161735 CNV deletion 26073780
nsv1161734 CNV deletion 26073780
nsv1132671 CNV duplication 24896259
nsv1120166 OTHER inversion 24896259
nsv1077021 CNV deletion 25765185
nsv1034460 CNV loss 25217958
nsv1029399 CNV gain 25217958
nsv1023729 CNV gain 25217958
nsv1020054 CNV gain 25217958
nsv1018354 CNV loss 25217958
nsv1017841 CNV loss 25217958
esv4612 CNV loss 18987735
esv3891354 CNV loss 25118596
esv3891353 CNV loss 25118596
esv3891352 CNV gain+loss 25118596
esv3891351 CNV loss 25118596
esv3891350 CNV loss 25118596
esv3616408 CNV loss 21293372
esv3616407 CNV loss 21293372
esv3616406 CNV loss 21293372
esv3616403 CNV loss 21293372
esv3584881 CNV loss 24956385
esv3584880 CNV loss 24956385
esv3576528 CNV gain 25503493
esv3572567 CNV loss 25503493
esv3572566 CNV loss 25503493
esv3572557 CNV loss 25503493
esv3543118 CNV deletion 23714750
esv3332820 CNV insertion 20981092
esv28500 CNV loss 19812545
esv2764099 CNV gain+loss 21179565
esv2764075 CNV gain+loss 21179565
esv2762733 CNV loss 21179565
esv2759598 CNV loss 17122850
esv2736660 CNV deletion 23290073
esv2736659 CNV deletion 23290073
esv2736658 CNV deletion 23290073
esv2736657 CNV deletion 23290073
esv2672142 CNV deletion 23128226
esv2656774 CNV deletion 23128226
esv2421867 CNV deletion 20811451
esv2421337 CNV deletion 20811451
esv2193216 CNV deletion 18987734
esv1267406 CNV insertion 17803354
dgv875n27 CNV gain 19166990
dgv874n27 CNV loss 19166990
dgv873n27 CNV loss 19166990
dgv7107n100 CNV loss 25217958
dgv265n111 CNV deletion 26073780
dgv248e55 CNV loss 17911159
dgv2049e212 CNV loss 25503493
dgv2048e212 CNV loss 25503493
dgv155e203 CNV loss 21179565
dgv12019n54 CNV gain+loss 21841781
dgv12018n54 CNV loss 21841781
dgv12017n54 CNV loss 21841781
dgv12016n54 CNV loss 21841781
dgv12015n54 CNV loss 21841781
dgv12014n54 CNV loss 21841781
dgv12013n54 CNV loss 21841781
nsv6091 CNV deletion 18451855
nsv6090 CNV insertion 18451855
nsv6089 CNV deletion 18451855
nsv528536 CNV loss 19592680
nsv528442 CNV gain 19592680
nsv522161 CNV loss 19592680
nsv520235 CNV loss 19592680
nsv517314 CNV loss 19592680
nsv517114 CNV gain+loss 19592680
nsv516746 CNV gain 19592680
nsv514477 CNV loss 21397061
nsv510978 OTHER complex 20534489
nsv510132 OTHER sequence alteration 20534489
nsv507443 OTHER sequence alteration 20534489
nsv473757 CNV novel sequence insertion 20440878
nsv465564 CNV loss 19166990
nsv465555 CNV loss 19166990
nsv465554 CNV loss 19166990
nsv442472 CNV loss 18776908
nsv958524 CNV deletion 24416366
nsv951108 CNV deletion 24416366
nsv8298 CNV gain+loss 18304495
nsv824551 CNV loss 20364138
nsv818608 CNV gain 17921354
nsv818607 CNV loss 17921354
nsv818605 CNV loss 17921354
nsv610560 CNV loss 21841781
nsv610559 CNV loss 21841781
nsv610556 CNV gain 21841781
nsv610554 CNV loss 21841781
nsv610532 CNV loss 21841781
nsv610524 CNV loss 21841781
nsv610466 CNV loss 21841781

Variation tolerance for TUSC3 Gene

Residual Variation Intolerance Score: 7.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUSC3 Gene

Human Gene Mutation Database (HGMD)
TUSC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUSC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUSC3 Gene

Disorders for TUSC3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TUSC3 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards
Search TUSC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TUSC3_HUMAN
  • Mental retardation, autosomal recessive 7 (MRT7) [MIM:611093]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:18452889, ECO:0000269 PubMed:18455129}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUSC3

Genetic Association Database (GAD)
TUSC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUSC3
genes like me logo Genes that share disorders with TUSC3: view

No data available for Genatlas for TUSC3 Gene

Publications for TUSC3 Gene

  1. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. (PMID: 18452889) Garshasbi M. … Kuss A.W. (Am. J. Hum. Genet. 2008) 3 4 22 64
  2. Structure and methylation-associated silencing of a gene within a homozygously deleted region of human chromosome band 8p22. (PMID: 8661104) Macgrogan D. … Bookstein R. (Genomics 1996) 2 3 4 64
  3. Structural basis of substrate specificity of human oligosaccharyl transferase subunit N33/Tusc3 and its role in regulating protein N- glycosylation. (PMID: 24685145) Mohorko E. … Glockshuber R. (Structure 2014) 3 4 64
  4. Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M. … Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012) 3 46 64
  5. Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development. (PMID: 19717468) Zhou H. … Clapham D.E. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 64

Products for TUSC3 Gene

Sources for TUSC3 Gene

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