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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MPI Gene

protein-coding   GIFtS: 66
GCID: GC15P075182

Mannose Phosphate Isomerase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mannose Phosphate Isomerase1 2     Mannose-6- Phosphate Isomerase2
PMI12 3 5     phosphohexomutase2
Mannose-6-Phosphate Isomerase1 2     Phosphomannose Isomerase 12
PMI2 3     Phosphohexomutase3
EC 5.3.1.83 8     Phosphomannose Isomerase3
CDG1B2 5     EC 5.3.18

External Ids:    HGNC: 72161   Entrez Gene: 43512   Ensembl: ENSG000001788027   OMIM: 1545505   UniProtKB: P349493   

Export aliases for MPI gene to outside databases

Previous GC identifers: GC15U990034 GC15P068297 GC15P072758 GC15P072898 GC15P072969 GC15P051979


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. (provided by RefSeq, Jul 2008)

GeneCards Summary for MPI Gene: 
MPI (mannose phosphate isomerase) is a protein-coding gene. Diseases associated with MPI include cutaneous leishmaniasis, and congenital disorder of glycosylation type 1b, and among its related super-pathways are GDP-mannose biosynthesis and WNT ligand biogenesis and trafficking. GO annotations related to this gene include mannose-6-phosphate isomerase activity and zinc ion binding.

UniProtKB/Swiss-Prot: MPI_HUMAN, P34949
Function: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of
critical mannosyl transfer reactions




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MPI gene promoter:
         STAT5B   STAT1   STAT4   STAT1beta   STAT5A   STAT1alpha   CHOP-10   STAT2   STAT3   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPI promoter sequence
   Search SABiosciences Chromatin IP Primers for MPI

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPI


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q24.1   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q24.1

MPI Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPI gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P075182:  view genomic region     (about GC identifiers)

Start:
75,182,346 bp from pter      End:
75,191,798 bp from pter
Size:
9,453 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MPI_HUMAN, P34949 (See protein sequence)
Recommended Name: Mannose-6-phosphate isomerase  
Size: 423 amino acids; 46656 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Cytoplasm (Probable)
Secondary accessions: A8K8K9 Q96AB0
Alternative splicing: 2 isoforms:  P34949-1   P34949-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MPI: NX_P34949

Explore proteomics data for MPI at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P34949

  • 4/13 DME Specific Peptides for MPI (P34949) (see all 13)
     LSIQAHP  NMEDIFG  RAGLTPK  KVKDTFNG 

    MPI Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MPI Protein Expression
    REFSEQ proteins: NP_002426.1  
    ENSEMBL proteins: 
     ENSP00000455161   ENSP00000318318   ENSP00000455405   ENSP00000454622   ENSP00000455972  
     ENSP00000455383   ENSP00000457494   ENSP00000454267   ENSP00000457885   ENSP00000454312  
     ENSP00000457619   ENSP00000455241   ENSP00000440447   ENSP00000318192   ENSP00000455065  
     ENSP00000457020   ENSP00000454619   ENSP00000455477   ENSP00000457013  
    Reactome Protein details: P34949
    Human Recombinant Protein Products for MPI: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MPI
    OriGene Protein Over-expression Lysate for MPI
    OriGene MassSpec for MPI 
    OriGene Custom Protein Services for MPI
    GenScript Custom Purified and Recombinant Proteins Services for MPI
    Novus Biologicals MPI Proteins
    Novus Biologicals MPI Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for MPI
    Cloud-Clone Corp. Proteins for MPI 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    MPI for ontologies           About GeneDecksing



    MPI Antibody Products: 
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    Novus Biologicals MPI Antibodies
    Abcam antibodies for MPI
    Cloud-Clone Corp. Antibodies for MPI 
    ThermoFisher Antibodies for MPI
    LSBio Antibodies in human, mouse, rat for MPI 

    Assay Products for MPI: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MPI
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MPI
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MPI 
    Cloud-Clone Corp. CLIAs for MPI


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR016305 Mannose-6-P_Isomerase
     IPR011051 RmlC_Cupin
     IPR001250 Man6P_Isoase-1
     IPR014710 RmlC-like_jellyroll
     IPR018050 Pmannose_isomerase-type1_CS

    Graphical View of Domain Structure for InterPro Entry P34949

    ProtoNet protein and cluster: P34949

    1 Blocks protein domain: IPB001250 Mannose-6-phosphate isomerase

    UniProtKB/Swiss-Prot: MPI_HUMAN, P34949
    Similarity: Belongs to the mannose-6-phosphate isomerase type 1 family


    MPI for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MPI_HUMAN, P34949
    Function: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of
    critical mannosyl transfer reactions
    Catalytic activity: D-mannose 6-phosphate = D-fructose 6-phosphate

         Genatlas biochemistry entry for MPI:
    mannose phosphate isomerase

         Enzyme Numbers (IUBMB): EC 5.3.1.81 2 EC 5.3.12

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004476mannose-6-phosphate isomerase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    MPI for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MPI:
     Proliferating cells 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mpi):
     adipose tissue  cardiovascular system  cellular  embryogenesis  growth/size 
     hematopoietic system  mortality/aging  nervous system  other  vision/eye 

    MPI for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MPI 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MPI

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MPI 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MPI 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPI
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MPI:
    hsa-miR-610 hsa-miR-149 hsa-miR-302f hsa-miR-1245 hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidMPI 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MPI
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPI

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MPI
    Sirion Biotech Customized adenovirus for overexpression of MPI

    Clone
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    OriGene clones in human, mouse for MPI (see all 8)
    OriGene ORF clones in mouse, rat for MPI
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MPI (NM_002435)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPI
    Sirion Biotech Customized lentivirus for stable overexpression of MPI 
                         Customized lentivirus expression plasmids for stable overexpression of MPI 

    Cell Line
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    Search LifeMap BioReagents cell lines for MPI
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPI


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MPI About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1GDP-mannose biosynthesis
    GDP-mannose biosynthesis0.80
    colanic acid building blocks biosynthesis0.40
    Synthesis of GDP-mannose0.80
    2Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    Post-translational protein modification0.44
    WNT ligand biogenesis and trafficking0.77
    Metabolism of proteins0.35
    Signaling by Wnt0.62
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.53
    Synthesis of substrates in N-glycan biosythesis0.53
    4Signaling by GPCR
    Signal Transduction0.55
    5Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for MPI
        GDP-mannose biosynthesis
    colanic acid building blocks biosynthesis
    D-mannose degradation

    5/9        Reactome Pathways for MPI (see all 9)
        Signaling by Wnt
    Asparagine N-linked glycosylation
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Synthesis of GDP-mannose
    Synthesis of substrates in N-glycan biosythesis


    3         Kegg Pathways  (Kegg details for MPI):
        Fructose and mannose metabolism
    Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: MPI_HUMAN, P34949
    Pathway: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from
    D-fructose 6-phosphate: step 1/2


    MPI for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MPI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/86 Interacting proteins for MPI (P349493 ENSP000003183184) via UniProtKB, MINT, STRING, and/or I2D (see all 86)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PFKLP178583, ENSP000002698484I2D: score=1 STRING: ENSP00000269848
    UBCP0CG483, ENSP000003448184I2D: score=2 STRING: ENSP00000344818
    FAT1Q145173I2D: score=5 
    STARD3Q148493I2D: score=5 
    PTPN2P177063I2D: score=4 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--
    GO:0009298GDP-mannose biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--

    MPI for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MPI for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MPI

    4 HMDB Compounds for MPI    About this table
    CompoundSynonyms CAS #PubMed Ids
    Beta-D-Fructose 6-phosphatebeta-D-Fructose 6-phosphate (see all 2)----
    Fructose 6-phosphateD-Fructose 6-phosphate (see all 13)643-13-0--
    Mannose 6-phosphateD-Mannose 6-phosphate (see all 10)3672-15-9--
    ZincZinc (see all 2)7440-66-6--

    10/16 Novoseek inferred chemical compound relationships for MPI gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fructose-6-phosphate 86.7 10 19574302 (2), 8381960 (1), 16131071 (1), 12023200 (1) (see all 8)
    mannose 6-phosphate 85.2 23 8381960 (2), 16488169 (2), 19574302 (2), 19157945 (2) (see all 11)
    6-phosphogluconate 80.3 5 1471744 (1), 7570863 (1), 18817779 (1), 8625862 (1) (see all 5)
    mannose 80.2 18 12434892 (3), 9287314 (2), 19157945 (2), 11687298 (2) (see all 8)
    malate 61.5 4 2091345 (1), 18817779 (1), 8625862 (1), 7810807 (1)
    glucose 6-phosphate 60.6 8 8381960 (2), 1471744 (1), 18817779 (1), 8625862 (1) (see all 6)
    isocitrate 56.5 3 1471744 (1), 8625862 (1), 17027989 (1)
    cellulose acetate 49.7 2 2091345 (2)
    nucleoside 45.8 4 1471744 (1), 7570863 (1), 8625862 (1), 7810807 (1)
    fumarate 42.8 2 7810807 (1), 17027989 (1)

    Search CenterWatch for drugs/clinical trials and news about MPI

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MPI gene: 
    NM_002435.1  

    Unigene Cluster for MPI:

    Mannose phosphate isomerase
    Hs.75694  [show with all ESTs]
    Unigene Representative Sequence: BX648475
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000569931 ENST00000352410(uc002azc.1 uc010ulx.1) ENST00000566377(uc002azd.1)
    ENST00000569233 ENST00000567132 ENST00000564633 ENST00000568907 ENST00000561470
    ENST00000563422(uc010ulv.2) ENST00000564003(uc010ulw.2) ENST00000562800
    ENST00000563786 ENST00000535694 ENST00000323744(uc002aze.1) ENST00000567116
    ENST00000568303 ENST00000568828 ENST00000562606
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMPI 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF504648.1 AK096520.1 AK225149.1 AK292374.1 AK294030.1 AK301370.1 AK302354.1 BC017351.2 
    BC046357.1 BX648475.1 X76057.1 

    23 DOTS entries:

    DT.100816319  DT.95345340  DT.456396  DT.121081914  DT.70104553  DT.421638  DT.121081912  DT.95345342 
    DT.100650489  DT.121081921  DT.100816313  DT.70100319  DT.100816320  DT.121081927  DT.40251386  DT.95140045 
    DT.100701227  DT.100842222  DT.101958355  DT.121081905  DT.121081910  DT.121081925  DT.91754202 

    24/283 AceView cDNA sequences (see all 283):

    BQ022184 F07686 X76057 BU902055 BX364196 BQ574832 BP355228 BP357065 
    N93491 CF272348 BM915180 BC017351 AF504648 BE206499 BF116149 BM741575 
    BM836891 BU508276 BM802202 BF793984 AA350316 BI754727 BX418835 AW445009 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for MPI (see all 16)    About this scheme

    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:        -                       -                                                           -                                                               

    ExUns: 8b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for MPI

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MPI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MPI Expression
    About this image


    See MPI Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MPI

    SOURCE GeneReport for Unigene cluster: Hs.75694

    UniProtKB/Swiss-Prot: MPI_HUMAN, P34949
    Tissue specificity: Expressed in all tissues, but more abundant in heart, brain and skeletal muscle

        SABiosciences Custom PCR Arrays for MPI
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPI

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MPI gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpi1 , 5 mannose phosphate isomerase1, 5 87(n)1
    84.63(a)1
      9 (31.05 cM)5
    1101191  NM_025837.21  NP_080113.11 
     575442565 
    chicken
    (Gallus gallus)
    Aves MPI1 mannose phosphate isomerase 68.5(n)
    63.16(a)
      769765  XM_001233063.2  XP_001233064.2 
    lizard
    (Anolis carolinensis)
    Reptilia MPI6
    Mannose-6-phosphate isomerase
    67(a)
    1 ↔ 1
    GL343492.1(574750-581829)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.44562 Xenopus laevis transcribed sequence with weak similarity more 76.08(n)    AW640064.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mpi1 mannose phosphate isomerase 65.72(n)
    63.51(a)
      613246  NM_001033110.1  NP_001028282.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG84171 , 3 mannose-6-phosphate isomerase3
    CG84171
    37(a)3
    51.35(n)1
    40.54(a)1
      85E63
    411921  NM_141683.21  NP_649940.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK632.41 , 3 Mannose 6-phosphate isomerase3
    Protein ZK632.41
    40(a)
    (best of 2)3
    49.91(n)1
    43.81(a)1
      III(9877426-9879168)3
    1763881  NM_066773.31  NP_499174.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMI40(YER003C)4
    PMI401
    Mannose-6-phosphate isomerase, catalyzes the interconversion more4
    Pmi40p1
    48.98(n)1
    41.77(a)1
      5(159118-157736)4
    8567201, 4  NP_010918.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DIN91 mannose-6-phosphate isomerase 49.41(n)
    43.65(a)
      843027  NM_105377.4  NP_176878.1 
    rice
    (Oryza sativa)
    Liliopsida Os.347782 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.87(n)    AK070177.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/266 SNPs in MPI are shown (see all 266)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0123404
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0123402 R Q mis40--------
    VAR_0225194
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0225192 R Q mis40--------
    VAR_0225184
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0225182 D N mis40--------
    VAR_0225234
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0225232 I T mis40--------
    VAR_0123454
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0123452 I T mis40--------
    VAR_0123394
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0123392 M T mis40--------
    VAR_0225204
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0225202 G S mis40--------
    VAR_0123384
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0123382 S L mis40--------
    VAR_0225174
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0225172 Y C mis40--------
    VAR_0225214
    Congenital disorder of glycosylation 1B (CDG1B)4--see VAR_0225212 Y C mis40--------

    HapMap Linkage Disequilibrium report for MPI (75182346 - 75191798 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MPI:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv990390CNV Deletion20482838
    esv1060905CNV Insertion17803354
    nsv904381CNV Loss21882294


    Human Gene Mutation Database (HGMD): MPI

    Locus Specific Mutation Databases (LSDB): MPI
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MPI
    DNA2.0 Custom Variant and Variant Library Synthesis for MPI

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 154550   
    OMIM disorders: 602579  
    UniProtKB/Swiss-Prot: MPI_HUMAN, P34949
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for MPI:    About MalaCards
    cutaneous leishmaniasis    congenital disorder of glycosylation type 1b    protein-losing enteropathy    bovine spongiform encephalopathy
    onchocerciasis    leishmaniasis    congenital disorder of glycosylation    glanzmann's thrombasthenia
    thrombasthenia    malaria    tuberculosis    ovarian cancer
    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for MPI:
    Congenital disorder of glycosylation     protein-losing enteropathy

    MPI for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for MPI gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital disorders 81.9 7 10980531 (1), 19101627 (1), 11350186 (1), 12530817 (1) (see all 5)
    carbohydrate-deficient glycoprotein syndrome 79 2 9525984 (1), 10783607 (1)
    protein-losing enteropathies 76.5 1 12434892 (1)
    leishmaniasis 34.3 1 2091345 (1)
    bleeding 0 1 12434892 (1)

    GeneTests: MPI
    GeneReviews: MPI
    Genetic Association Database (GAD): MPI
    Human Genome Epidemiology (HuGE) Navigator: MPI (3 documents)

    Export disorders for MPI gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MPI gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with MPI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). (PubMed id 10980531)1, 2, 9 Schollen E....Matthijs G. (2000)
    2. Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase. (PubMed id 8307007)1, 2, 9 Proudfoot A.E.I.... Smith D.J. (1994)
    3. Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. (PubMed id 11350186)1, 2, 9 Westphal V....Freeze H.H. (2001)
    4. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). (PubMed id 12357336)1, 2, 9 Schollen E.... Matthijs G. (2002)
    5. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. (PubMed id 9525984)1, 2, 9 Niehues R.... Marquardt T. (1998)
    6. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'. (PubMed id 20628624)1, 4 Johnatty S.E.... . (2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. (PubMed id 12414827)1, 2 Vuillaumier-Barrot S....Seta N. (2002)
    10. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. (PubMed id 11134235)1, 2 de Lonlay P.... Cormier-Daire V. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4351 HGNC: 7216 AceView: MPI Ensembl:ENSG00000178802 euGenes: HUgn4351
    ECgene: MPI Kegg: 4351 H-InvDB: MPI

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MPI Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPI

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MPI gene:
    Search GeneIP for patents involving MPI

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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