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Aliases for MPI Gene

Aliases for MPI Gene

  • Mannose Phosphate Isomerase 2 3 5
  • Mannose-6-Phosphate Isomerase 2 3
  • Phosphohexomutase 3 4
  • EC 4 58
  • PMI1 3 4
  • PMI 3 4
  • Phosphomannose Isomerase 1 3
  • Phosphomannose Isomerase 4
  • EC 5.3.1 58
  • CDG1B 3

External Ids for MPI Gene

Previous GeneCards Identifiers for MPI Gene

  • GC15U990034
  • GC15P068297
  • GC15P072758
  • GC15P072898
  • GC15P072969
  • GC15P075182
  • GC15P051979

Summaries for MPI Gene

Entrez Gene Summary for MPI 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]

GeneCards Summary for MPI Gene

MPI (Mannose Phosphate Isomerase) is a Protein Coding gene. Diseases associated with MPI include Congenital Disorder Of Glycosylation, Type Ib and Protein-Losing Enteropathy. Among its related pathways are Fructose and mannose metabolism and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include mannose-6-phosphate isomerase activity.

UniProtKB/Swiss-Prot for MPI Gene

  • Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

Additional gene information for MPI Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPI Gene

Genomics for MPI Gene

Regulatory Elements for MPI Gene

Enhancers for MPI Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H074888 1.4 ENCODE dbSUPER 18.7 +0.6 625 4 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF416 RPP25 SIN3A ENSG00000203392 SNX33 ISLR PTPN9 MPI GOLGA6D LOC105370902 LOC732265
GH15H074841 1.4 ENCODE dbSUPER 15.7 -46.1 -46147 5 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF766 ZNF207 SIN3A EDC3 ENSG00000260274 RPP25 MAN2C1 ENSG00000203392 SNUPN MPI ULK3 SCAMP2
GH15H074901 1.1 ENCODE dbSUPER 17.6 +12.2 12222 1.7 CTCF ESRRA FOXA2 TBL1XR1 MAX ZNF2 RAD21 CTBP1 GATA3 SCRT2 MPI GC15P074895 FAM219B
GH15H075034 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +146.4 146433 4.2 HDGF PKNOX1 INSM2 SIN3A GLIS2 EGR1 ZSCAN5C FOS KLF7 ZNF548 SCAMP5 RPP25 MAN2C1 SIN3A GOLGA6D LOC105370902 DNM1P49 LOC732265 ENSG00000260274 GOLGA6A
GH15H074953 1.5 FANTOM5 ENCODE 11.1 +66.7 66652 5.4 PKNOX1 ARNT SIN3A DMAP1 YY1 ZNF766 ZNF207 FOS SP3 SP5 RPP25 MAN2C1 SIN3A DNM1P35 EDC3 ENSG00000260274 FBXO22 GOLGA6D LOC105370902 DNM1P49
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MPI on UCSC Golden Path with GeneCards custom track

Promoters for MPI Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079314 295 1401 HDGF MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Locations for MPI Gene

Genomic Locations for MPI Gene
12,215 bases
Plus strand

Genomic View for MPI Gene

Genes around MPI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPI Gene

Proteins for MPI Gene

  • Protein details for MPI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mannose-6-phosphate isomerase
    Protein Accession:
    Secondary Accessions:
    • A8K8K9
    • Q96AB0

    Protein attributes for MPI Gene

    423 amino acids
    Molecular mass:
    46656 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MPI Gene


neXtProt entry for MPI Gene

Selected DME Specific Peptides for MPI Gene


Post-translational modifications for MPI Gene

  • Ubiquitination at posLast=2020, posLast=6969, and Lys87
  • Modification sites at PhosphoSitePlus

Domains & Families for MPI Gene

Gene Families for MPI Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MPI Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the mannose-6-phosphate isomerase type 1 family.
  • Belongs to the mannose-6-phosphate isomerase type 1 family.
genes like me logo Genes that share domains with MPI: view

Function for MPI Gene

Molecular function for MPI Gene

GENATLAS Biochemistry:
mannose phosphate isomerase
UniProtKB/Swiss-Prot CatalyticActivity:
D-mannose 6-phosphate = D-fructose 6-phosphate.
UniProtKB/Swiss-Prot Function:
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

Enzyme Numbers (IUBMB) for MPI Gene

Phenotypes From GWAS Catalog for MPI Gene

Gene Ontology (GO) - Molecular Function for MPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004476 mannose-6-phosphate isomerase activity TAS,IEA --
GO:0008270 zinc ion binding IEA --
GO:0016853 isomerase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MPI: view
genes like me logo Genes that share phenotypes with MPI: view

Human Phenotype Ontology for MPI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MPI Gene

MGI Knock Outs for MPI:
  • Mpi tm1a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for MPI Gene

Localization for MPI Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPI Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPI gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 3
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with MPI: view

Pathways & Interactions for MPI Gene

genes like me logo Genes that share pathways with MPI: view

UniProtKB/Swiss-Prot P34949-MPI_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 1/2.

Gene Ontology (GO) - Biological Process for MPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000032 cell wall mannoprotein biosynthetic process IBA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006486 protein glycosylation IBA --
GO:0009298 GDP-mannose biosynthetic process IEA,TAS --
GO:0061611 mannose to fructose-6-phosphate metabolic process IEA --
genes like me logo Genes that share ontologies with MPI: view

No data available for SIGNOR curated interactions for MPI Gene

Drugs & Compounds for MPI Gene

(6) Drugs for MPI Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2359
Mannose 6-phosphate Investigational Pharma 0

(12) Additional Compounds for MPI Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphorate
  • D-Fructose 6-phosphoric acid
  • D-Fructose-6-P
  • D-Fructose-6-phosphate
genes like me logo Genes that share compounds with MPI: view

Transcripts for MPI Gene

Unigene Clusters for MPI Gene

Mannose phosphate isomerase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MPI Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7 ^ 8a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - - - - - -
SP7: - - - - - -
SP8: - - - - - - - - -
SP9: - - - - -
SP10: - - - - - -
SP11: - - - - -
SP12: - - - - - - - - -
SP13: - - - - - - -
SP14: - - -
SP15: - -
SP16: -

ExUns: 8b

Relevant External Links for MPI Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MPI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPI Gene

Protein differential expression in normal tissues from HIPED for MPI Gene

This gene is overexpressed in Salivary gland (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MPI Gene

Protein tissue co-expression partners for MPI Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MPI Gene:


SOURCE GeneReport for Unigene cluster for MPI Gene:


mRNA Expression by UniProt/SwissProt for MPI Gene:

Tissue specificity: Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.

Evidence on tissue expression from TISSUES for MPI Gene

  • Nervous system(4.9)
  • Blood(4.3)
  • Liver(4.2)
  • Intestine(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MPI Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • salivary gland
  • breast
  • esophagus
  • heart
  • lung
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • testicle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with MPI: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MPI Gene

Orthologs for MPI Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MPI Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MPI 33 34
  • 99.68 (n)
(Bos Taurus)
Mammalia MPI 33 34
  • 91.02 (n)
(Canis familiaris)
Mammalia MPI 33 34
  • 87.97 (n)
(Mus musculus)
Mammalia Mpi 33 16 34
  • 87 (n)
(Rattus norvegicus)
Mammalia Mpi 33
  • 86.52 (n)
(Ornithorhynchus anatinus)
Mammalia MPI 34
  • 73 (a)
(Monodelphis domestica)
Mammalia MPI 34
  • 64 (a)
(Gallus gallus)
Aves MPI 33 34
  • 68.41 (n)
(Anolis carolinensis)
Reptilia MPI 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mpi 33
  • 61.92 (n)
Str.8465 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4456 33
(Danio rerio)
Actinopterygii mpi 33 34
  • 65.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000053 33
  • 51.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8417 35 33 34
  • 51.25 (n)
(Caenorhabditis elegans)
Secernentea ZK632.4 35 33 34
  • 49.74 (n)
C05C8.7 35 34
  • 36 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR003C 33
  • 53.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMI40 33 34 36
  • 48.98 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13728g 33
  • 47.68 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons DIN9 33
  • 49.49 (n)
(Oryza sativa)
Liliopsida Os01g0127900 33
  • 51.09 (n)
Os.34778 33
bread mold
(Neurospora crassa)
Ascomycetes NCU07165 33
  • 50.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2G2.16 33
  • 47.76 (n)
Species where no ortholog for MPI was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MPI Gene

Gene Tree for MPI (if available)
Gene Tree for MPI (if available)

Paralogs for MPI Gene

No data available for Paralogs for MPI Gene

Variants for MPI Gene

Sequence variations from dbSNP and Humsavar for MPI Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs104894489 Pathogenic, Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] 74,893,306(+) GAAGC(A/G)GATCT intron-variant, reference, missense
rs104894494 Pathogenic, Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] 74,891,539(+) GCTCT(C/T)AGTTG reference, missense
rs104894495 Pathogenic, Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] 74,892,728(+) AGAGA(C/T)GGCCA reference, missense
rs28928906 Pathogenic, Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] 74,897,050(+) AGTTC(A/G)TGCTG intron-variant, reference, missense
rs369326210 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579] 74,897,651(+) CTTCA(C/T)TGGGG reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MPI Gene

Variant ID Type Subtype PubMed ID
nsv1121512 CNV deletion 24896259
esv990390 CNV deletion 20482838
esv1060905 CNV insertion 17803354

Variation tolerance for MPI Gene

Residual Variation Intolerance Score: 64.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPI Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPI Gene

Disorders for MPI Gene

MalaCards: The human disease database

(6) MalaCards diseases for MPI Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ib
  • mpi-cdg
protein-losing enteropathy
  • enteropathy, exudative
congenital disorder of glycosylation, type in
  • congenital disorder of glycosylation
  • infection by onchocerca volvulus
  • post kala-azar dermal leishmaniasis
- elite association - COSMIC cancer census association via MalaCards
Search MPI in MalaCards View complete list of genes associated with diseases


  • Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy. {ECO:0000269 PubMed:10980531, ECO:0000269 PubMed:11134235, ECO:0000269 PubMed:11350186, ECO:0000269 PubMed:12357336, ECO:0000269 PubMed:12414827, ECO:0000269 PubMed:9525984, ECO:0000269 PubMed:9585601}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MPI

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MPI: view

No data available for Genatlas for MPI Gene

Publications for MPI Gene

  1. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PMID: 12357336) Schollen E … Matthijs G (European journal of human genetics : EJHG 2002) 3 4 22 60
  2. Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. (PMID: 11350186) Westphal V … Freeze HH (Molecular genetics and metabolism 2001) 3 4 22 60
  3. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). (PMID: 10980531) Schollen E … Matthijs G (Human mutation 2000) 3 4 22 60
  4. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. (PMID: 9525984) Niehues R … Marquardt T (The Journal of clinical investigation 1998) 3 4 22 60
  5. Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase. (PMID: 8307007) Proudfoot AE … Smith DJ (European journal of biochemistry 1994) 3 4 22 60

Products for MPI Gene

Sources for MPI Gene

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