DPM3
entrez
54344
canonical
uniprot
Q9P2X0
canonical
ensembl
ENSG00000179085
resolver
ensp
ENSP00000344338
resolver
ensp
ENSP00000357384
resolver
ensp
ENSP00000357385
resolver
genesymbol
DPM3
resolver
hgnc
HGNC:3007
resolver
uniprot
A0A140VJI4
resolver
uniprot
Q5SR62
resolver
uniprot
Q5SR63
resolver
uniprot
Q86TM7
resolver
uniprot
Q9BXN4
resolver
uniprot
Q9BXN5
resolver
uniprot_entry
A0A140VJI4_HUMAN
resolver
uniprot_entry
DPM3_HUMAN
resolver
uniprot_entry
Q86TM7_HUMAN
resolver
uniprot_sec
Q5SR62
resolver
uniprot_sec
Q5SR63
resolver
uniprot_sec
Q9BXN4
resolver
uniprot_sec
Q9BXN5
resolver
amino_acid_sequence
MTKLAQWLWGLAILGSTWVALTTGALGLELPLSCQEVLWPLPAYLLVSAGCYALGTVGYRVATFHDCEDAARELQSQIQEARADLARRGLRF
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15 (MDDGB15) [MIM:618992]: An autosomal recessive, congenital muscular disorder characterized by hyperCKemia, myopathic features observed on muscle biopsy, developmental delay, mildly impaired intellectual development with learning difficulties, epilepsy, and mild white matter abnormalities. {ECO:0000269|PubMed:31469168}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy limb-girdle C15 (MDDGC15) [MIM:612937]: An autosomal recessive muscular dystrophy associated with a disorder of glycosylation resulting in under-glycosylated serum glycoproteins. MDDGC15 patients have muscle weakness, increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan. {ECO:0000269|PubMed:19576565, ECO:0000269|PubMed:28803818, ECO:0000269|PubMed:31266720}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum. {ECO:0000269|PubMed:10835346}.
uniprot
proteins
mass_dalton
10094
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation.
uniprot
proteins
protein_family
DPM3 family
uniprot
proteins
pubmed
10835346
uniprot
proteins
pubmed
11420690
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19576565
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28803818
uniprot
proteins
pubmed
29246662
uniprot
proteins
pubmed
31266720
uniprot
proteins
pubmed
31469168
uniprot
proteins
sequence_length
92
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 37..57; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins