DPM3

Protein identityUniProt · HPA

UniProt accession

Q9P2X0

Gene

DPM3

Ensembl

ENSG00000179085

Chromosome

1

Canonical length

92 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins

OverviewNCBI Gene

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

92 residues, UniProt reviewed canonical sequence.

>Q9P2X0|DPM3
     1  MTKLAQWLWG LAILGSTWVA LTTGALGLEL PLSCQEVLWP LPAYLLVSAG CYALGTVGYR
    61  VATFHDCEDA ARELQSQIQE ARADLARRGL RF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DPM3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.49

Highest tissue expression

158 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DPM3.

Disease | AllUniProt

Conditions DPM3 is implicated in, by any mechanism.

• Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15 (MDDGB15) MIM:618992
• Muscular dystrophy-dystroglycanopathy limb-girdle C15 (MDDGC15) MIM:612937

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 77 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• DPM3-congenital disorder of glycosylation
• Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
• Myopathy
• EMG: myopathic abnormalities
• Cardiomyopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.4

gnomAD pLI

0.23

gnomAD missense Z

0.42

DepMap mean gene effect

-0.32

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• dolichol phosphate mannose biosynthetic process
• dolichyl monophosphate biosynthetic process
• protein O-linked glycosylation via mannose

Molecular functions

• enzyme activator activity
• protein-membrane adaptor activity

Cellular components

• dolichol-phosphate-mannose synthase complex
• endoplasmic reticulum
• endoplasmic reticulum membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Dolichol-phosphate mannosyltransferase subunit 3
• Dolichol-phosphate mannosyltransferase subunit 3 (DPM3)

KeywordsUniProt

• Congenital disorder of glycosylation
• Congenital muscular dystrophy
• Dystroglycanopathy
• Endoplasmic reticulum
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of DPM3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DPM2
• DPM1