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Protein

Tumor suppressor candidate 3

Gene

TUSC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Has also oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition.2 Publications1 Publication
Magnesium transporter.1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

  • magnesium ion transmembrane transporter activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processTransport
LigandMagnesium

Enzyme and pathway databases

ReactomeiR-HSA-446203 Asparagine N-linked glycosylation
R-HSA-5223345 Miscellaneous transport and binding events
UniPathwayi
UPA00378

Protein family/group databases

TCDBi1.A.76.1.2 the magnesium transporter1 (magt1) family

Names & Taxonomyi

Protein namesi
Recommended name:
Tumor suppressor candidate 3
Alternative name(s):
Magnesium uptake/transporter TUSC3
Protein N33
Gene namesi
Name:TUSC3
Synonyms:N33
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000104723.20
HGNCiHGNC:30242 TUSC3
MIMi601385 gene
neXtProtiNX_Q13454

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini42 – 196LumenalSequence analysisAdd BLAST155
Transmembranei197 – 217HelicalSequence analysisAdd BLAST21
Topological domaini218 – 221CytoplasmicSequence analysis4
Transmembranei222 – 242HelicalSequence analysisAdd BLAST21
Topological domaini243 – 276LumenalSequence analysisAdd BLAST34
Transmembranei277 – 297HelicalSequence analysisAdd BLAST21
Topological domaini298 – 312CytoplasmicSequence analysisAdd BLAST15
Transmembranei313 – 333HelicalSequence analysisAdd BLAST21
Topological domaini334 – 348LumenalSequence analysisAdd BLAST15

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 7 (MRT7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:611093

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi99C → S: Reduces N-glycosylation of cysteine-proximal acceptor sites; when associated with S-102. 1 Publication1
Mutagenesisi102C → S: Reduces N-glycosylation of cysteine-proximal acceptor sites; when associated with S-99. 1 Publication1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi7991
GeneReviewsiTUSC3
MalaCardsiTUSC3
MIMi611093 phenotype
OpenTargetsiENSG00000104723
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA128394537

Polymorphism and mutation databases

BioMutaiTUSC3
DMDMi6166601

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 41Sequence analysisAdd BLAST41
ChainiPRO_000021530042 – 348Tumor suppressor candidate 3Add BLAST307

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi99 ↔ 102Redox-activeCombined sources1 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ13454
MaxQBiQ13454
PaxDbiQ13454
PeptideAtlasiQ13454
PRIDEiQ13454
ProteomicsDBi59456
59457 [Q13454-2]

PTM databases

iPTMnetiQ13454
PhosphoSitePlusiQ13454

Expressioni

Tissue specificityi

Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000104723 Expressed in 211 organ(s), highest expression level in chorionic villus
CleanExiHS_TUSC3
ExpressionAtlasiQ13454 baseline and differential
GenevisibleiQ13454 HS

Organism-specific databases

HPAiHPA049851
HPA049974

Interactioni

Subunit structurei

Accessory component of the STT3B-containing form of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes. The association of TUSC3 or MAGT1 with the STT3B-containing complex seems to be mutually exclusvice.2 Publications

Protein-protein interaction databases

BioGridi113701, 30 interactors
CORUMiQ13454
IntActiQ13454, 1 interactor
MINTiQ13454
STRINGi9606.ENSP00000221167

Structurei

Secondary structure

1348
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ13454
SMRiQ13454
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini59 – 187ThioredoxinAdd BLAST129

Sequence similaritiesi

Belongs to the OST3/OST6 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2603 Eukaryota
ENOG410XR1F LUCA
GeneTreeiENSGT00390000012030
HOGENOMiHOG000231301
HOVERGENiHBG002493
InParanoidiQ13454
KOiK12669
OMAiWIGERTD
OrthoDBiEOG091G0ERM
PhylomeDBiQ13454
TreeFamiTF314850

Family and domain databases

InterProiView protein in InterPro
IPR021149 OligosaccharylTrfase_OST3/OST6
IPR036249 Thioredoxin-like_sf
PfamiView protein in Pfam
PF04756 OST3_OST6, 1 hit
SUPFAMiSSF52833 SSF52833, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13454-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGARGAPSRR RQAGRRLRYL PTGSFPFLLL LLLLCIQLGG GQKKKENLLA
60 70 80 90 100
EKVEQLMEWS SRRSIFRMNG DKFRKFIKAP PRNYSMIVMF TALQPQRQCS
110 120 130 140 150
VCRQANEEYQ ILANSWRYSS AFCNKLFFSM VDYDEGTDVF QQLNMNSAPT
160 170 180 190 200
FMHFPPKGRP KRADTFDLQR IGFAAEQLAK WIADRTDVHI RVFRPPNYSG
210 220 230 240 250
TIALALLVSL VGGLLYLRRN NLEFIYNKTG WAMVSLCIVF AMTSGQMWNH
260 270 280 290 300
IRGPPYAHKN PHNGQVSYIH GSSQAQFVAE SHIILVLNAA ITMGMVLLNE
310 320 330 340
AATSKGDVGK RRIICLVGLG LVVFFFSFLL SIFRSKYHGY PYSDLDFE
Length:348
Mass (Da):39,676
Last modified:November 1, 1996 - v1
Checksum:i16D97CB1E00C5190
GO
Isoform 2 (identifier: Q13454-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-348: DLDFE → FLIK

Show »
Length:347
Mass (Da):39,558
Checksum:i538641E36C51905D
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RIY7D6RIY7_HUMAN
Tumor suppressor candidate 3
TUSC3
314Annotation score:
D6RA37D6RA37_HUMAN
Tumor suppressor candidate 3
TUSC3
289Annotation score:
D6RDV0D6RDV0_HUMAN
Tumor suppressor candidate 3
TUSC3
276Annotation score:
A0A0A0MTC2A0A0A0MTC2_HUMAN
Tumor suppressor candidate 3
TUSC3
302Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04583665I → V. Corresponds to variant dbSNP:rs11545035EnsemblClinVar.1
Natural variantiVAR_069369247M → V1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_003776344 – 348DLDFE → FLIK in isoform 2. 2 Publications5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U42349 mRNA Translation: AAB18374.1
U42359
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA Translation: AAB18375.1
U42360
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA Translation: AAB18376.1
BT020002 mRNA Translation: AAV38805.1
AC010656 Genomic DNA No translation available.
AC019292 Genomic DNA No translation available.
AC091559 Genomic DNA No translation available.
AC100850 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63837.1
CH471080 Genomic DNA Translation: EAW63839.1
BC010370 mRNA Translation: AAH10370.1
CCDSiCCDS5993.1 [Q13454-2]
CCDS5994.1 [Q13454-1]
PIRiG02297
RefSeqiNP_006756.2, NM_006765.3 [Q13454-1]
NP_839952.1, NM_178234.2 [Q13454-2]
UniGeneiHs.426324
Hs.600825

Genome annotation databases

EnsembliENST00000382020; ENSP00000371450; ENSG00000104723 [Q13454-2]
ENST00000503731; ENSP00000424544; ENSG00000104723 [Q13454-1]
GeneIDi7991
KEGGihsa:7991
UCSCiuc003wwt.4 human [Q13454-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U42349 mRNA Translation: AAB18374.1
U42359
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA Translation: AAB18375.1
U42360
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA Translation: AAB18376.1
BT020002 mRNA Translation: AAV38805.1
AC010656 Genomic DNA No translation available.
AC019292 Genomic DNA No translation available.
AC091559 Genomic DNA No translation available.
AC100850 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63837.1
CH471080 Genomic DNA Translation: EAW63839.1
BC010370 mRNA Translation: AAH10370.1
CCDSiCCDS5993.1 [Q13454-2]
CCDS5994.1 [Q13454-1]
PIRiG02297
RefSeqiNP_006756.2, NM_006765.3 [Q13454-1]
NP_839952.1, NM_178234.2 [Q13454-2]
UniGeneiHs.426324
Hs.600825

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4M8GX-ray2.00A/B44-194[»]
4M90X-ray1.60A44-194[»]
4M91X-ray1.10A44-194[»]
4M92X-ray1.60A44-194[»]
ProteinModelPortaliQ13454
SMRiQ13454
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113701, 30 interactors
CORUMiQ13454
IntActiQ13454, 1 interactor
MINTiQ13454
STRINGi9606.ENSP00000221167

Protein family/group databases

TCDBi1.A.76.1.2 the magnesium transporter1 (magt1) family

PTM databases

iPTMnetiQ13454
PhosphoSitePlusiQ13454

Polymorphism and mutation databases

BioMutaiTUSC3
DMDMi6166601

Proteomic databases

EPDiQ13454
MaxQBiQ13454
PaxDbiQ13454
PeptideAtlasiQ13454
PRIDEiQ13454
ProteomicsDBi59456
59457 [Q13454-2]

Protocols and materials databases

DNASUi7991
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382020; ENSP00000371450; ENSG00000104723 [Q13454-2]
ENST00000503731; ENSP00000424544; ENSG00000104723 [Q13454-1]
GeneIDi7991
KEGGihsa:7991
UCSCiuc003wwt.4 human [Q13454-1]

Organism-specific databases

CTDi7991
DisGeNETi7991
EuPathDBiHostDB:ENSG00000104723.20
GeneCardsiTUSC3
GeneReviewsiTUSC3
HGNCiHGNC:30242 TUSC3
HPAiHPA049851
HPA049974
MalaCardsiTUSC3
MIMi601385 gene
611093 phenotype
neXtProtiNX_Q13454
OpenTargetsiENSG00000104723
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA128394537
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2603 Eukaryota
ENOG410XR1F LUCA
GeneTreeiENSGT00390000012030
HOGENOMiHOG000231301
HOVERGENiHBG002493
InParanoidiQ13454
KOiK12669
OMAiWIGERTD
OrthoDBiEOG091G0ERM
PhylomeDBiQ13454
TreeFamiTF314850

Enzyme and pathway databases

UniPathwayi
UPA00378

ReactomeiR-HSA-446203 Asparagine N-linked glycosylation
R-HSA-5223345 Miscellaneous transport and binding events

Miscellaneous databases

ChiTaRSiTUSC3 human
GeneWikiiTUSC3
GenomeRNAii7991
PROiPR:Q13454
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104723 Expressed in 211 organ(s), highest expression level in chorionic villus
CleanExiHS_TUSC3
ExpressionAtlasiQ13454 baseline and differential
GenevisibleiQ13454 HS

Family and domain databases

InterProiView protein in InterPro
IPR021149 OligosaccharylTrfase_OST3/OST6
IPR036249 Thioredoxin-like_sf
PfamiView protein in Pfam
PF04756 OST3_OST6, 1 hit
SUPFAMiSSF52833 SSF52833, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTUSC3_HUMAN
AccessioniPrimary (citable) accession number: Q13454
Secondary accession number(s): A8MSM0
, D3DSP2, Q14911, Q14912, Q96FW0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1996
Last modified: September 12, 2018
This is version 159 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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