MPDU1

Protein identityUniProt · HPA

UniProt accession

O75352

Gene

MPDU1

Ensembl

ENSG00000129255

Chromosome

17

Canonical length

247 aa

Protein class

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

Subcellular location

Endoplasmic reticulum,Mitochondria

OverviewNCBI Gene

This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

Canonical amino-acid sequenceUniProt

247 residues, UniProt reviewed canonical sequence.

>O75352|MPDU1
     1  MAAEADGPLK RLLVPILLPE KCYDQLFVQW DLLHVPCLKI LLSKGLGLGI VAGSLLVKLP
    61  QVFKILGAKS AEGLSLQSVM LELVALTGTM VYSITNNFPF SSWGEALFLM LQTITICFLV
   121  MHYRGQTVKG VAFLACYGLV LLVLLSPLTP LTVVTLLQAS NVPAVVVGRL LQAATNYHNG
   181  HTGQLSAITV FLLFGGSLAR IFTSIQETGD PLMAGTFVVS SLCNGLIAAQ LLFYWNAKPP
   241  HKQKKAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MPDU1 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

7

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

104 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MPDU1.

Disease | AllUniProt

Conditions MPDU1 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1F (CDG1F) MIM:609180

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 137 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• MPDU1-congenital disorder of glycosylation

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)

1.31

gnomAD pLI

0

gnomAD missense Z

0.44

DepMap mean gene effect

-0.19

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• dolichol-linked oligosaccharide biosynthetic process
• oligosaccharide biosynthetic process
• protein folding

Cellular components

• endoplasmic reticulum membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• PQ-loop repeat
• Mannose-P-dolichol utilization defect 1 protein
• PQ loop repeat

KeywordsUniProt

• Acetylation
• Congenital disorder of glycosylation
• Membrane
• Repeat
• Transmembrane
• Transmembrane helix
• Transport