MAGT1
entrez
84061
canonical
uniprot
Q9H0U3
canonical
ensembl
ENSG00000102158
resolver
ensp
ENSP00000354649
resolver
ensp
ENSP00000480732
resolver
ensp
ENSP00000509067
resolver
enst
ENST00000358075
resolver
enst
ENST00000691993
resolver
genesymbol
MAGT1
resolver
genesymbol_syn
IAG2
resolver
hgnc
HGNC:28880
resolver
uniprot
A0A087WU53
resolver
uniprot
B2RAR4
resolver
uniprot
D3DTE3
resolver
uniprot
Q53G00
resolver
uniprot
Q6P577
resolver
uniprot
Q8NBN6
resolver
uniprot_entry
A0A087WU53_HUMAN
resolver
uniprot_entry
MAGT1_HUMAN
resolver
uniprot_sec
B2RAR4
resolver
uniprot_sec
D3DTE3
resolver
uniprot_sec
Q53G00
resolver
uniprot_sec
Q6P577
resolver
uniprot_sec
Q8NBN6
resolver
amino_acid_sequence
MAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQLMEWTNKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILANSWRYSSAFTNRIFFAMVDFDEGSDVFQMLNMNSAPTFINFPAKGKPKRGDTYELQVRGFSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRSNMEFLFNKTGWAFAALCFVLAMTSGQMWNHIRGPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFNGGVTLGMVLLCEAATSDMDIGKRKIMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLMS
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) [MIM:300853]: A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. {ECO:0000269|PubMed:21796205, ECO:0000269|PubMed:24550228, ECO:0000269|PubMed:25504528, ECO:0000269|PubMed:31036665}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital disorder of glycosylation 1CC (CDG1CC) [MIM:301031]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1CC is an X-linked recessive form mainly characterized by intellectual and developmental disability. {ECO:0000269|PubMed:31036665}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Accessory component of the STT3B-containing form 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 (PubMed:31831667). Involved in N-glycosylation of STT3B-dependent substrates (PubMed:31831667). Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. 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 in epithelial cells (Probable). {ECO:0000269|PubMed:25135935, ECO:0000269|PubMed:26864433, ECO:0000269|PubMed:31036665, ECO:0000269|PubMed:31831667, ECO:0000305, ECO:0000305|PubMed:15804357, ECO:0000305|PubMed:19717468}.
uniprot
proteins
mass_dalton
38037
uniprot
proteins
mutagenesis
MUTAGEN 87; /note="C->S: Reduces N-glycosylation of cysteine-proximal acceptor sites; when associated with S-90."; /evidence="ECO:0000269|PubMed:25135935"; MUTAGEN 90; /note="C->S: Reduces N-glycosylation of cysteine-proximal acceptor sites; when associated with S-87."; /evidence="ECO:0000269|PubMed:25135935
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:31831667}.
uniprot
proteins
protein_family
OST3/OST6 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12887896
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15804357
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
18455129
uniprot
proteins
pubmed
19717468
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21796205
uniprot
proteins
pubmed
23871722
uniprot
proteins
pubmed
24550228
uniprot
proteins
pubmed
25135935
uniprot
proteins
pubmed
25504528
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26864433
uniprot
proteins
pubmed
31036665
uniprot
proteins
pubmed
31831667
uniprot
proteins
sequence_length
335
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19717468}; Multi-pass membrane protein {ECO:0000269|PubMed:19717468}. Endoplasmic reticulum {ECO:0000269|PubMed:25135935}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 185..205; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 210..230; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 271..291; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 301..321; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins