DPM1
entrez
8813
canonical
uniprot
O60762
canonical
ensembl
ENSG00000000419
resolver
ensp
ENSP00000360638
resolver
ensp
ENSP00000360640
resolver
ensp
ENSP00000360644
resolver
ensp
ENSP00000654743
resolver
ensp
ENSP00000654750
resolver
enst
ENST00000371582
resolver
enst
ENST00000371584
resolver
enst
ENST00000371588
resolver
genesymbol
DPM1
resolver
hgnc
HGNC:3005
resolver
uniprot
A0A0S2Z4V7
resolver
uniprot
A0A0S2Z4Y5
resolver
uniprot
H0Y368
resolver
uniprot
O15157
resolver
uniprot
Q5QPK2
resolver
uniprot
Q6IB78
resolver
uniprot
Q96HK0
resolver
uniprot_entry
A0A0S2Z4V7_HUMAN
resolver
uniprot_entry
A0A0S2Z4Y5_HUMAN
resolver
uniprot_entry
DPM1_HUMAN
resolver
uniprot_entry
H0Y368_HUMAN
resolver
uniprot_entry
Q5QPK2_HUMAN
resolver
uniprot_sec
O15157
resolver
uniprot_sec
Q6IB78
resolver
uniprot_sec
Q96HK0
resolver
amino_acid_sequence
MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFLTQILLRPGASDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]: 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 CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy. {ECO:0000269|PubMed:10642597, ECO:0000269|PubMed:10642602, ECO:0000269|PubMed:15669674, ECO:0000269|PubMed:23856421}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.83
uniprot
proteins
function
FUNCTION: Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex. {ECO:0000269|PubMed:10835346}.
uniprot
proteins
mass_dalton
29634
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000305|PubMed:10835346}.
uniprot
proteins
protein_family
Glycosyltransferase 2 family
uniprot
proteins
pubmed
10642597
uniprot
proteins
pubmed
10642602
uniprot
proteins
pubmed
10835346
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15669674
uniprot
proteins
pubmed
16280320
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19576565
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23856421
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
9223280
uniprot
proteins
pubmed
9535917
uniprot
proteins
sequence_length
260
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000305|PubMed:10835346}.
uniprot
proteins