Q13454

PTMD Annotation Information

※ Protein Information

Tag Content
UniProt Accession TUSC3_HUMAN; Q13454;
Entrez ID 7991
GenBank Protein ID NM_006765.3; NM_178234.2;
GenBank Nucleotide ID NP_006756.2; NP_839952.1;
Protein Name Tumor suppressor candidate 3 (Magnesium uptake/transporter TUSC3) (Protein N33)
Gene Name TUSC3; N33
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionActs 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.;Magnesium transporter.
Sequence
(Fasta)		MGARGAPSRR RQAGRRLRYL PTGSFPFLLL LLLLCIQLGG GQKKKENLLA EKVEQLMEWS 60
SRRSIFRMNG DKFRKFIKAP PRNYSMIVMF TALQPQRQCS VCRQANEEYQ ILANSWRYSS 120
AFCNKLFFSM VDYDEGTDVF QQLNMNSAPT FMHFPPKGRP KRADTFDLQR IGFAAEQLAK 180
WIADRTDVHI RVFRPPNYSG TIALALLVSL VGGLLYLRRN NLEFIYNKTG WAMVSLCIVF 240
AMTSGQMWNH IRGPPYAHKN PHNGQVSYIH GSSQAQFVAE SHIILVLNAA ITMGMVLLNE 300
AATSKGDVGK RRIICLVGLG LVVFFFSFLL SIFRSKYHGY PYSDLDFE 349

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1MethylationGastric cancerP24640104
[Reference]: The study was organized to investigate the anomalous methylation of genes NA1, RASSF1A, MLH1, N33, DAPK, the expression of genes Htert These changes can be used as additional markers both in diagnostic of cancer of stomach and dynamic monitoring of operated patients.
2GlycosylationAutosomal recessive intellectual disabilityC23825019
[Reference]: Defects in the TUSC3 gene have been identified in individuals with nonsyndromic autosomal recessive intellectual disability (ARID), due to either point mutations or intragenic deletions. We report on a boy with a homozygous microdeletion 8p22, sizing 203kb, encompassing the first exon of the TUSC3 gene,

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 2)		MESH:D008106 ; Liver Cirrhosis, Experimental
MESH:C567016 ; Mental Retardation, Autosomal Recessive 7
HGMD
(count: 2)		CG082411; Mental retardation; Gross deletions
CI082295; Mental retardation; Small insertions
GWASdb
(count: 46)
(view all)		rs1560216; Multiple complex diseases; Null
rs1560216; Smoking initiation; nicotine dependence
rs1975057; Multiple complex diseases; Null
rs7007500; Multiple complex diseases; Null
rs7819262; Multiple complex diseases; Null
rs7819262; Smoking initiation; nicotine dependence

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 5)		 216       SLVGGLLYLRRNNLE     dbPAF
281       QAQFVAESHIILVLN     dbPAF
292       LVLNAAITMGMVLLN     dbPAF
327       GLVVFFFSFLLSIFR     dbPAF
331       FFFSFLLSIFRSKYH     dbPAF
Acetylation
(count: 1)		 72        IFRMNGDKFRKFIKA     PLMD
Ubiquitination
(count: 1)		 180       FAAEQLAKWIADRTD     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource
P62136Q13454MINT;HPRD