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Aliases for MPI Gene

Aliases for MPI Gene

  • Mannose Phosphate Isomerase 2 3
  • PMI1 3 4 6
  • Mannose-6-Phosphate Isomerase 2 3
  • Phosphohexomutase 3 4
  • EC 5.3.1.8 4 63
  • CDG1B 3 6
  • PMI 3 4
  • Phosphomannose Isomerase 1 3
  • Phosphomannose Isomerase 4
  • EC 5.3.1 63

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 cutaneous leishmaniasis. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. 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

Genomic Location for MPI Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MPI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPI Gene

Proteomics data for MPI Gene at MOPED

Post-translational modifications for MPI Gene

  • Ubiquitination at Lys20, Lys69, and Lys87
  • Modification sites at PhosphoSitePlus

Domains for MPI Gene

Suggested Antigen Peptide Sequences for MPI Gene

Graphical View of Domain Structure for InterPro Entry

P34949

UniProtKB/Swiss-Prot:

MPI_HUMAN :
  • P34949
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 IEA --
GO:0008270 zinc 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

No data available for Animal Models , Transcription Factor Targeting 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 4
mitochondrion 2
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MPI Gene

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

Pathways 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

Interacting Proteins for MPI Gene

Gene Ontology (GO) - Biological Process for MPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0009298 GDP-mannose biosynthetic process TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with MPI: view

Compounds for MPI Gene

(4) HMDB Compounds for MPI Gene

Compound Synonyms Cas Number PubMed IDs
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
Not Available
Fructose 6-phosphate
  • D-Fructose 6-phosphate
643-13-0
Mannose 6-phosphate
  • D-Mannose 6-phosphate
3672-15-9
Zinc
  • Zinc
7440-66-6

(16) Novoseek inferred chemical compound relationships for MPI Gene

Compound -log(P) Hits PubMed IDs
fructose-6-phosphate 86.7 9
mannose 6-phosphate 85.2 15
6-phosphogluconate 80.3 5
mannose 80.2 13
malate 61.5 4
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:

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 for MPI Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MPI Gene

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 expressions 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
chimpanzee
(Pan troglodytes)
Mammalia MPI 35
  • 99.68 (n)
  • 99.53 (a)
MPI 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MPI 35
  • 91.02 (n)
  • 91.25 (a)
MPI 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPI 35
  • 87.97 (n)
  • 88.84 (a)
MPI 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mpi 35
  • 87 (n)
  • 84.63 (a)
Mpi 16
Mpi 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MPI 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MPI 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpi 35
  • 86.52 (n)
  • 85.58 (a)
chicken
(Gallus gallus)
Aves MPI 35
  • 68.41 (n)
  • 63.1 (a)
MPI 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPI 36
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4456 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mpi 35
  • 61.92 (n)
  • 63.18 (a)
Str.8465 35
zebrafish
(Danio rerio)
Actinopterygii mpi 35
  • 65.72 (n)
  • 63.51 (a)
mpi 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000053 35
  • 51.38 (n)
  • 44.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8417 35
  • 51.25 (n)
  • 40.37 (a)
CG8417 36
  • 37 (a)
OneToOne
CG8417 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea C05C8.7 36
  • 32 (a)
OneToMany
ZK632.4 35
  • 49.74 (n)
  • 43.81 (a)
ZK632.4 36
  • 39 (a)
OneToMany
C05C8.7 37
  • 36 (a)
ZK632.4 37
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR003C 35
  • 53.14 (n)
  • 44.01 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMI40 35
  • 48.98 (n)
  • 41.77 (a)
PMI40 36
  • 39 (a)
OneToOne
PMI40 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13728g 35
  • 47.68 (n)
  • 42.79 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DIN9 35
  • 49.49 (n)
  • 43.65 (a)
rice
(Oryza sativa)
Liliopsida Os.34778 35
Os01g0127900 35
  • 51.09 (n)
  • 41.71 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07165 35
  • 50.9 (n)
  • 42.16 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2G2.16 35
  • 47.76 (n)
  • 40.3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
Species with no ortholog for MPI:
  • 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 MAF
rs1130741 Benign 74,897,589(+) ACAGT(A/G)ATAGC utr-variant-3-prime, reference, synonymous-codon
rs2230479 -- 74,897,788(+) CCTCA(C/T)CTCCT utr-variant-3-prime
rs7179093 -- 74,899,031(+) AACAT(A/G)CTCAA utr-variant-3-prime
rs7495739 Benign 74,893,329(+) GACAC(A/G)GTTAT intron-variant
rs7497201 -- 74,898,349(+) GGGGG(A/G)GTGAG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv904381 CNV Loss 21882294
esv990390 CNV Deletion 20482838
esv1060905 CNV Insertion 17803354

Relevant External Links for MPI Gene

HapMap Linkage Disequilibrium report
MPI
Human Gene Mutation Database (HGMD)
MPI
Locus Specific Mutation Databases (LSDB)
MPI

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

Disorders for MPI Gene

(1) OMIM Diseases for MPI Gene (154550)

UniProtKB/Swiss-Prot

MPI_HUMAN
  • Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]: 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. Congenital disorder of glycosylation type 1B 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.

(2) University of Copenhagen DISEASES for MPI Gene

(5) Novoseek inferred disease relationships for MPI Gene

Disease -log(P) Hits PubMed IDs
congenital disorders 81.9 5
carbohydrate-deficient glycoprotein syndrome 79 2
protein-losing enteropathies 76.5 1
leishmaniasis 34.3 1
bleeding 0 1

Relevant External Links for MPI

GeneTests
MPI
GeneReviews
MPI
Genetic Association Database (GAD)
MPI
Human Genome Epidemiology (HuGE) Navigator
MPI
genes like me logo Genes that share disorders with MPI: view

Publications for MPI Gene

  1. 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 23
  2. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. (PMID: 9525984) Niehues R. … Marquardt T. (J. Clin. Invest. 1998) 3 4 23
  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 23
  4. 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 23
  5. 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 23

Products for MPI Gene

Sources for MPI Gene

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