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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 5.3.1.8 4 61
  • PMI1 3 4
  • PMI 3 4
  • Phosphomannose Isomerase 1 3
  • Phosphomannose Isomerase 4
  • EC 5.3.1 61
  • 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 Transport to the Golgi and subsequent modification and Fructose and mannose 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.

No data available for 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
GH15F074854 0.2 ENCODE 29.9 -35.3 -35309 1.1 GLIS1 PRDM10 MPI FAM219B CPLX3 LMAN1L ULK3 SCAMP2
GH15F074888 0.2 ENCODE 18.7 +0.6 625 4.0 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 RPP25 ISLR SNX33 ENSG00000203392 EDC3 MPI LOC105370902 LOC441728 LOC732265 DNM1P49
GH15F074901 0.2 ENCODE 17.6 +12.2 12222 1.7 TBL1XR1 ZNF2 RAD21 ZNF335 GLIS2 SCRT2 ZNF143 DEK EGR2 ZNF654 MPI GC15P074895 FAM219B
GH15F074841 1.2 Ensembl ENCODE 15.7 -46.1 -46147 5.0 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS ENSG00000260274 RPP25 EDC3 MPI ULK3 SCAMP2 DNM1P35 FAM219B ENSG00000203392 NEIL1
GH15F074936 0.4 ENCODE 14.4 +47.7 47666 2.6 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 ENSG00000260274 RPP25 FBXO22 EDC3 MPI LOC101929333 UBL7-AS1 ENSG00000203392 DNM1P34 SCAMP5
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001796869 295 1401 HDGF ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for MPI Gene

Chromosome:
15
Start:
74,890,005 bp from pter
End:
74,902,219 bp from pter
Size:
12,215 bases
Orientation:
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:
    P34949-MPI_HUMAN
    Recommended name:
    Mannose-6-phosphate isomerase
    Protein Accession:
    P34949
    Secondary Accessions:
    • A8K8K9
    • Q96AB0

    Protein attributes for MPI Gene

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

    Alternative splice isoforms for MPI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPI Gene

Selected DME Specific Peptides for MPI Gene

P34949:
  • KVKDTFNG
  • NMEDIFG
  • LLASSDPLAQI
  • LDSASILL
  • LSIQAHP
  • NHKPEMAIALTPF
  • LLLQLHQQ
  • RAGLTPK
  • HYPDANHKPEMAIALT
  • FQGLCGFRPVEEIVTF
  • KVPEFQFLIGD
  • RGGVLFIGANESVSLKLT
  • GDCVECMA

Post-translational modifications for MPI Gene

  • Ubiquitination at Lys 20, Lys 69, and Lys 87
  • Modification sites at PhosphoSitePlus

Domains & Families for MPI Gene

Suggested Antigen Peptide Sequences for MPI Gene

Graphical View of Domain Structure for InterPro Entry

P34949

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for MPI Gene

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

Gene Ontology (GO) - Molecular Function for MPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004476 mannose-6-phosphate isomerase activity TAS --
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

Inhibitory RNA Products

Flow Cytometry 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MPI Gene COMPARTMENTS Subcellular localization image for MPI gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for MPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2231

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Mannose 6-phosphate
  • alpha-D-Mannose-6-P
  • alpha-D-Mannose-6-phosphate
  • alpha-delta-Mannose-6-P
  • alpha-delta-Mannose-6-phosphate
  • D-Mannose 6-phosphate
3672-15-9
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
643-13-0
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:

Inhibitory RNA Products

Flow Cytometry 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
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for MPI Gene

GeneLoc Exon Structure for
MPI
ECgene alternative splicing isoforms for
MPI

Expression for MPI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

MPI

SOURCE GeneReport for Unigene cluster for MPI Gene:

Hs.75694

mRNA Expression by UniProt/SwissProt for MPI Gene:

P34949-MPI_HUMAN
Tissue specificity: Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.
genes like me logo Genes that share expression patterns with MPI: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia MPI 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia MPI 34 35
  • 91.02 (n)
dog
(Canis familiaris)
Mammalia MPI 34 35
  • 87.97 (n)
mouse
(Mus musculus)
Mammalia Mpi 34 16 35
  • 87 (n)
rat
(Rattus norvegicus)
Mammalia Mpi 34
  • 86.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MPI 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MPI 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPI 34 35
  • 68.41 (n)
lizard
(Anolis carolinensis)
Reptilia MPI 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpi 34
  • 61.92 (n)
Str.8465 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4456 34
zebrafish
(Danio rerio)
Actinopterygii mpi 34 35
  • 65.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000053 34
  • 51.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8417 36 34 35
  • 51.25 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK632.4 36 34 35
  • 49.74 (n)
C05C8.7 36 35
  • 36 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR003C 34
  • 53.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMI40 34 35 37
  • 48.98 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13728g 34
  • 47.68 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons DIN9 34
  • 49.49 (n)
rice
(Oryza sativa)
Liliopsida Os01g0127900 34
  • 51.09 (n)
Os.34778 34
bread mold
(Neurospora crassa)
Ascomycetes NCU07165 34
  • 50.9 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2G2.16 34
  • 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

ENSEMBL:
Gene Tree for MPI (if available)
TreeFam:
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 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579], Pathogenic 74,893,306(+) GAAGC(A/G)GATCT intron-variant, reference, missense
rs104894494 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579], Pathogenic 74,891,539(+) GCTCT(C/T)AGTTG reference, missense
rs104894495 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579], Pathogenic 74,892,728(+) AGAGA(C/T)GGCCA reference, missense
rs28928906 Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579], Pathogenic 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
esv1060905 CNV insertion 17803354
esv990390 CNV deletion 20482838
nsv1121512 CNV deletion 24896259

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)
MPI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPI

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

Disorders for MPI Gene

MalaCards: The human disease database

(8) MalaCards diseases for MPI Gene - From: 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
congenital disorders of n-linked glycosylation and multiple pathway
  • cdg syndromes
onchocerciasis
  • infection by onchocerca volvulus
- elite association - COSMIC cancer census association via MalaCards
Search MPI in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MPI_HUMAN
  • 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)
MPI
Human Genome Epidemiology (HuGE) Navigator
MPI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPI
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. (Eur. J. Hum. Genet. 2002) 3 4 22 64
  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 H.H. (Mol. Genet. Metab. 2001) 3 4 22 64
  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. (Hum. Mutat. 2000) 3 4 22 64
  4. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. (PMID: 9525984) Niehues R. … Marquardt T. (J. Clin. Invest. 1998) 3 4 22 64
  5. Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase. (PMID: 8307007) Proudfoot A.E.I. … Smith D.J. (Eur. J. Biochem. 1994) 3 4 22 64

Products for MPI Gene

Sources for MPI Gene

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