DPM1

Protein identityUniProt · HPA

UniProt accession

O60762

Gene

DPM1

Ensembl

ENSG00000000419

Chromosome

20

Canonical length

260 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular 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. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

Canonical amino-acid sequenceUniProt

260 residues, UniProt reviewed canonical sequence.

>O60762|DPM1
     1  MASLEVSRSP RRSRRELEVR SPRQNKYSVL LPTYNERENL PLIVWLLVKS FSESGINYEI
    61  IIIDDGSPDG TRDVAEQLEK IYGSDRILLR PREKKLGLGT AYIHGMKHAT GNYIIIMDAD
   121  LSHHPKFIPE FIRKQKEGNF DIVSGTRYKG NGGVYGWDLK RKIISRGANF LTQILLRPGA
   181  SDLTGSFRLY RKEVLEKLIE KCVSKGYVFQ MEMIVRARQL NYTIGEVPIS FVDRVYGESK
   241  LGGNEIVSFL KGLLTLFATT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DPM1 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

58 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DPM1.

Disease | AllUniProt

Conditions DPM1 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1E (CDG1E) MIM:608799

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 314 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital disorder of glycosylation type 1E
• DPM1-related disorder
• Malignant tumor of urinary bladder
• Inborn genetic diseases

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)

0.87

gnomAD pLI

0

gnomAD missense Z

0.38

DepMap mean gene effect

-0.17

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 16% 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
• dolichol-linked oligosaccharide biosynthetic process
• dolichyl monophosphate biosynthetic process
• GDP-mannose metabolic process
• GPI anchor biosynthetic process
• protein O-linked glycosylation via mannose
• response to oxygen levels

Molecular functions

• alcohol binding
• D-mannose binding
• metal ion binding
• dolichyl-phosphate beta-D-mannosyltransferase activity

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• Glycosyltransferase 2-like
• Nucleotide-diphospho-sugar transferases
• Glycosyl transferase family 2
• DPM1-like

KeywordsUniProt

• Acetylation
• Congenital disorder of glycosylation
• Congenital muscular dystrophy
• Dystroglycanopathy
• Endoplasmic reticulum
• Glycosyltransferase
• Magnesium
• Manganese
• Metal-binding
• Phosphoprotein
• Transferase

InteractionsUniProt · HPA

Protein binding partners of DPM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DPM3
• ILK