MPDU1
entrez
9526
canonical
uniprot
O75352
canonical
ensembl
ENSG00000129255
resolver
ensp
ENSP00000250124
resolver
ensp
ENSP00000379758
resolver
enst
ENST00000396501
resolver
genesymbol
MPDU1
resolver
hgnc
HGNC:7207
resolver
uniprot
A0A0S2Z4W8
resolver
uniprot
B3KQP1
resolver
uniprot
B4DLH7
resolver
uniprot
B4DT74
resolver
uniprot
J3QW43
resolver
uniprot
Q9BUU8
resolver
uniprot_entry
A0A0S2Z4W8_HUMAN
resolver
uniprot_entry
B4DLH7_HUMAN
resolver
uniprot_entry
J3QW43_HUMAN
resolver
uniprot_entry
MPU1_HUMAN
resolver
uniprot_sec
B3KQP1
resolver
uniprot_sec
B4DT74
resolver
uniprot_sec
Q9BUU8
resolver
amino_acid_sequence
MAAEADGPLKRLLVPILLPEKCYDQLFVQWDLLHVPCLKILLSKGLGLGIVAGSLLVKLPQVFKILGAKSAEGLSLQSVMLELVALTGTMVYSITNNFPFSSWGEALFLMLQTITICFLVMHYRGQTVKGVAFLACYGLVLLVLLSPLTPLTVVTLLQASNVPAVVVGRLLQAATNYHNGHTGQLSAITVFLLFGGSLARIFTSIQETGDPLMAGTFVVSSLCNGLIAAQLLFYWNAKPPHKQKKAQ
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1F (CDG1F) [MIM:609180]: 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. {ECO:0000269|PubMed:11733556, ECO:0000269|PubMed:11733564}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors. {ECO:0000250}.
uniprot
proteins
mass_dalton
26638
uniprot
proteins
protein_family
MPDU1 (TC 2.A.43.3) family
uniprot
proteins
pubmed
11733556
uniprot
proteins
pubmed
11733564
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
9653160
uniprot
proteins
sequence_length
247
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 37..57; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 74..94; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 100..120; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 128..145; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 151..171; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 185..205; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 213..233; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins