DPM2
entrez
8818
canonical
uniprot
O94777
canonical
ensembl
ENSG00000136908
resolver
ensp
ENSP00000322181
resolver
ensp
ENSP00000568488
resolver
enst
ENST00000314392
resolver
genesymbol
DPM2
resolver
hgnc
HGNC:3006
resolver
uniprot
Q5XKK9
resolver
uniprot
Q6FGH3
resolver
uniprot_entry
DPM2_HUMAN
resolver
uniprot_sec
Q5XKK9
resolver
uniprot_sec
Q6FGH3
resolver
amino_acid_sequence
MATGTDQVVGLGLVAVSLIIFTYYTAWVILLPFIDSQHVIHKYFLPRAYAVAIPLAAGLLLLLFVGLFISYVMLKTKRVTKKAQ
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1U (CDG1U) [MIM:615042]: 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. Some CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-dystroglycan. {ECO:0000269|PubMed:23109149}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates the biosynthesis of dolichol phosphate-mannose (PubMed:10835346). Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1 (PubMed:10835346). Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis (PubMed:16162815). May act by regulating the GPI-GNT complex (PubMed:10944123). {ECO:0000269|PubMed:10835346, ECO:0000269|PubMed:10944123, ECO:0000269|PubMed:16162815}.
uniprot
proteins
mass_dalton
9312
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:10835346}.
uniprot
proteins
protein_family
DPM2 family
uniprot
proteins
pubmed
10835346
uniprot
proteins
pubmed
10944123
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16162815
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
23109149
uniprot
proteins
pubmed
9724629
uniprot
proteins
sequence_length
84
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 11..31; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 49..69; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins