MPI

Protein identityUniProt · HPA

UniProt accession

P34949

Gene

MPI

Ensembl

ENSG00000178802

Chromosome

15

Canonical length

423 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Plasma membrane,Cytosol

OverviewNCBI Gene

Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Canonical amino-acid sequenceUniProt

423 residues, UniProt reviewed canonical sequence.

>P34949|MPI
     1  MAAPRVFPLS CAVQQYAWGK MGSNSEVARL LASSDPLAQI AEDKPYAELW MGTHPRGDAK
    61  ILDNRISQKT LSQWIAENQD SLGSKVKDTF NGNLPFLFKV LSVETPLSIQ AHPNKELAEK
   121  LHLQAPQHYP DANHKPEMAI ALTPFQGLCG FRPVEEIVTF LKKVPEFQFL IGDEAATHLK
   181  QTMSHDSQAV ASSLQSCFSH LMKSEKKVVV EQLNLLVKRI SQQAAAGNNM EDIFGELLLQ
   241  LHQQYPGDIG CFAIYFLNLL TLKPGEAMFL EANVPHAYLK GDCVECMACS DNTVRAGLTP
   301  KFIDVPTLCE MLSYTPSSSK DRLFLPTRSQ EDPYLSIYDP PVPDFTIMKT EVPGSVTEYK
   361  VLALDSASIL LMVQGTVIAS TPTTQTPIPL QRGGVLFIGA NESVSLKLTE PKDLLIFRAC
   421  CLL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MPI 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)

0.23

Highest tissue expression

66 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MPI.

Disease | AllUniProt

Conditions MPI is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1B (CDG1B) MIM:602579

Disease | GeneticClinVar

148 pathogenic / likely-pathogenic of 615 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• MPI-congenital disorder of glycosylation
• MPI-related disorder

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)

1.17

gnomAD pLI

0

gnomAD missense Z

0.15

DepMap mean gene effect

0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• GDP-D-mannose biosynthetic process from fructose-6-phosphate
• GDP-mannose biosynthetic process
• mannose to fructose-6-phosphate catabolic process

Molecular functions

• zinc ion binding
• mannose-6-phosphate isomerase activity

Cellular components

• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• RmlC-like cupin domain superfamily
• RmlC-like jelly roll fold
• Mannose-6-phosphate isomerase, type I
• Mannose-6-phosphate isomerase
• Phosphomannose isomerase, type I, conserved site
• Phosphomannose isomerase type I, C-terminal domain
• Phosphomannose isomerase type I, catalytic domain
• Phosphomannose isomerase type I, helical insertion domain
• Phosphomannose isomerase type I C-terminal
• Phosphomannose isomerase type I, catalytic domain
• Phosphomannose isomerase type I, helical insertion domain

KeywordsUniProt

• Acetylation
• Congenital disorder of glycosylation
• Cytoplasm
• Isomerase
• Metal-binding
• Phosphoprotein
• Zinc