TUSC3

Protein identityUniProt · HPA

UniProt accession

Q13454

Gene

TUSC3

Ensembl

ENSG00000104723

Chromosome

8

Canonical length

348 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

348 residues, UniProt reviewed canonical sequence.

>Q13454|TUSC3
     1  MGARGAPSRR RQAGRRLRYL PTGSFPFLLL LLLLCIQLGG GQKKKENLLA EKVEQLMEWS
    61  SRRSIFRMNG DKFRKFIKAP PRNYSMIVMF TALQPQRQCS VCRQANEEYQ ILANSWRYSS
   121  AFCNKLFFSM VDYDEGTDVF QQLNMNSAPT FMHFPPKGRP KRADTFDLQR IGFAAEQLAK
   181  WIADRTDVHI RVFRPPNYSG TIALALLVSL VGGLLYLRRN NLEFIYNKTG WAMVSLCIVF
   241  AMTSGQMWNH IRGPPYAHKN PHNGQVSYIH GSSQAQFVAE SHIILVLNAA ITMGMVLLNE
   301  AATSKGDVGK RRIICLVGLG LVVFFFSFLL SIFRSKYHGY PYSDLDFE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TUSC3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

109 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TUSC3.

Disease | AllUniProt

Conditions TUSC3 is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal recessive 7 (MRT7) MIM:611093

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 324 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, autosomal recessive 7
• Inborn genetic diseases
• Intellectual disability
• Abnormality of the nervous system
• Intellectual disability, autosomal recessive 24

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.93

gnomAD pLI

0

gnomAD missense Z

-0.05

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cognition
• magnesium ion transmembrane transport
• magnesium ion transport
• protein N-linked glycosylation
• protein N-linked glycosylation via asparagine
• transmembrane transport

Molecular functions

• magnesium ion transmembrane transporter activity

Cellular components

• endoplasmic reticulum membrane
• mitochondrion
• oligosaccharyltransferase complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• MAGT1/OST3/OST6
• Thioredoxin-like superfamily
• OST3 / OST6 family, transporter family

KeywordsUniProt

• Disulfide bond
• Endoplasmic reticulum
• Intellectual disability
• Magnesium
• Membrane
• Signal
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of TUSC3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DDOST
• RPN2
• STT3B