TUSC3
entrez
7991
canonical
uniprot
Q13454
canonical
ensembl
ENSG00000104723
resolver
ensp
ENSP00000371450
resolver
ensp
ENSP00000423426
resolver
ensp
ENSP00000424544
resolver
ensp
ENSP00000425777
resolver
ensp
ENSP00000426880
resolver
ensp
ENSP00000547781
resolver
ensp
ENSP00000598874
resolver
ensp
ENSP00000680554
resolver
ensp
ENSP00000778245
resolver
ensp
ENSP00000778246
resolver
ensp
ENSP00000788243
resolver
ensp
ENSP00000788244
resolver
ensp
ENSP00000798690
resolver
ensp
ENSP00000798692
resolver
ensp
ENSP00000798693
resolver
ensp
ENSP00000798694
resolver
enst
ENST00000506802
resolver
enst
ENST00000509380
resolver
genesymbol
TUSC3
resolver
genesymbol_syn
N33
resolver
hgnc
HGNC:30242
resolver
uniprot
A8MSM0
resolver
uniprot
D3DSP2
resolver
uniprot
D6RA37
resolver
uniprot
D6RIY7
resolver
uniprot
Q14911
resolver
uniprot
Q14912
resolver
uniprot
Q96FW0
resolver
uniprot_entry
D6RA37_HUMAN
resolver
uniprot_entry
D6RIY7_HUMAN
resolver
uniprot_entry
TUSC3_HUMAN
resolver
uniprot_sec
A8MSM0
resolver
uniprot_sec
D3DSP2
resolver
uniprot_sec
Q14911
resolver
uniprot_sec
Q14912
resolver
uniprot_sec
Q96FW0
resolver
amino_acid_sequence
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAESHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYSDLDFE
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. Also has oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition. Could indirectly play a role in Mg(2+) transport (PubMed:19717468). {ECO:0000269|PubMed:19717468, ECO:0000269|PubMed:25135935, ECO:0000305|PubMed:12887896, ECO:0000305|PubMed:24685145}.
uniprot
proteins
mass_dalton
39676
uniprot
proteins
mutagenesis
MUTAGEN 99; /note="C->S: Reduces N-glycosylation of cysteine-proximal acceptor sites; when associated with S-102."; /evidence="ECO:0000269|PubMed:25135935"; MUTAGEN 102; /note="C->S: Reduces N-glycosylation of cysteine-proximal acceptor sites; when associated with S-99."; /evidence="ECO:0000269|PubMed:25135935
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation.
uniprot
proteins
protein_family
OST3/OST6 family
uniprot
proteins
pubmed
12887896
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
18452889
uniprot
proteins
pubmed
18455129
uniprot
proteins
pubmed
19717468
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
24685145
uniprot
proteins
pubmed
25135935
uniprot
proteins
pubmed
8661104
uniprot
proteins
sequence_length
348
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 197..217; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 222..242; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 277..297; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 313..333; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins