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MPI Gene

protein-coding   GIFtS: 67
GCID: GC15P075182

Mannose Phosphate Isomerase

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

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 1b, and cutaneous leishmaniasis. GO annotations related to this gene include mannose-6-phosphate isomerase activity.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 Chromatin IP Primers for MPI

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Ubiquitination2 at Lys20, Lys69, Lys87
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MPI (P34949) (see all 13)
     LSIQAHP  NMEDIFG  RAGLTPK  KVKDTFNG 


    See MPI Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001276084.1  NP_001276085.1  NP_001276086.1  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

    MPI Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene MassSpec for MPI
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    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

     
    Search eBioscience for Proteins for MPI 

    MPI Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MPI
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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

    MPI Assay Products:

    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
    Search eBioscience for ELISAs for MPI 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with MPI           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004476mannose-6-phosphate isomerase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with MPI           About GenesLikeMe


    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/body 
     hematopoietic system  mortality/aging  nervous system  other  vision/eye 

    Find genes that share phenotypes with MPI           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MPI
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target MPI:
    hsa-mir-877-5p (MIRT037312), hsa-mir-324-5p (MIRT043122), hsa-mir-320a (MIRT044606), hsa-mir-26b-5p (MIRT029256), hsa-mir-877-3p (MIRT036858)

    Block miRNA regulation of human, mouse, rat MPI using miScript Target Protectors
    5 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for MPI
    Predesigned siRNA for gene silencing in human, mouse, rat MPI

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MPI

    Clone
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    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)
    Sino Biological Human cDNA Clone for MPI
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPI

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MPI 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPI


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MPI_HUMAN, P34949: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with MPI           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MPI About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    GDP-mannose biosynthesis0.00
    Post-translational protein modification0.43
    Synthesis of GDP-mannose0.00
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.38
    Synthesis of substrates in N-glycan biosythesis0.00
    Metabolism of proteins0.30
    D-mannose degradation0.00
    2Amino sugar and nucleotide sugar metabolism
    Amino sugar and nucleotide sugar metabolism
    colanic acid building blocks biosynthesis0.00
    3Metabolism
    Metabolic pathways0.38
    4Fructose and mannose metabolism
    Fructose and mannose metabolism


    Find genes that share SuperPaths with MPI           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for MPI
        Synthesis of GDP-mannose


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MPI
    Interactions:

        Search GeneGlobe Interaction Network for MPI

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

    Selected Interacting proteins for MPI (P349493 ENSP000003183184) via UniProtKB, MINT, STRING, and/or I2D (see all 101)

    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): Selected biological process terms (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--

    Find genes that share ontologies with MPI           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with MPI           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MPI gene (4 alternative transcripts): 
    NM_001289155.1  NM_001289156.1  NM_001289157.1  NM_002435.2  

    Unigene Cluster for MPI:

    Mannose phosphate isomerase
    Hs.75694  [show with all ESTs]
    Unigene Representative Sequence: BX648475
    Selected 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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    5 qRT-PCR 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
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    GenScript: all cDNA clones in your preferred vector: MPI (NM_002435)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPI
      QuantiTect SYBR Green Assays in human, mouse, rat MPI
      QuantiFast Probe-based Assays in human, mouse, rat MPI

    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 

    Selected AceView cDNA sequences (see all 283):

    BF116149 BE206499 AW674838 BI754727 BX364196 BP355228 AI469958 BX418835 
    AF504648 BU508961 AW445009 BP334732 AI186646 CB242133 F07686 BM468603 
    AA351362 BQ022184 BC017351 N93030 X76057 N93491 NM_002435 BM741575 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    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

    MPI Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPI Protein Expression

    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

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    QuantiFast Probe-based Assays in human, mouse, rat MPI
    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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MPI gene from Selected 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 68.41(n)
    63.1(a)
      769765  XM_001233063.3  XP_001233064.3 
    lizard
    (Anolis carolinensis)
    Reptilia MPI6
    mannose 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 to protein refNP_002426.1 (H.sapiens) mannose-6- phosphate isomerase; Mannosephosphate isomerase (phosphomannose isomerase 1) [Homo sapiens] less 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
    51.25(n)1
    40.37(a)1
      85E63
    411921  NM_141683.31  NP_649940.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK632.41 , 3 Mannose 6-phosphate isomerase3
    ZK632.41
    40(a)
    (best of 2)3
    49.74(n)1
    43.81(a)1
      III(9877426-9879168)3
    1763881  NM_066773.41  NP_499174.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMI40(YER003C)4
    PMI401
    Mannose-6-phosphate isomerase, catalyzes the interconversion of fructose-6-P and mannose-6-P; required for early steps in protein mannosylation less4
    PMI401
    48.98(n)1
    41.77(a)1
      5(159118-157736)4
    8567201, 4  NP_010918.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DIN91 DIN9 49.49(n)
    43.65(a)
      843027  NM_105377.4  NP_176878.1 
    rice
    (Oryza sativa)
    Liliopsida Os.347782 Oryza sativa (japonica cultivar-group) cDNA cloneJ023043B18, full insert sequence less 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

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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MPI (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
    ----------
    rs289289061,2,,4
    CCongenital disorder of glycosylation 1B (CDG1B)4 pathogenic155240345(+) AGTTCA/GTGCTG 2 H R mis1 ese30--------
    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--------

    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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    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

  • 4 diseases for MPI:    
    About MalaCards
    congenital disorder of glycosylation type 1b    cutaneous leishmaniasis    protein-losing enteropathy    leishmaniasis

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

    Find genes that share disorders with MPI           About GenesLikeMe

    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

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    PubMed articles for MPI gene, integrated from 10 sources (see all 68):
    (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. (Hum. Mutat. 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. (Eur. J. Biochem. 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. (Mol. Genet. Metab. 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. (Eur. J. Hum. Genet. 2002)
    5. Carbohydrate-deficient glycoprotein syndrome type Ib: phosphomannose isomerase deficiency and mannose therapy. (PubMed id 9525984)1, 2, 9 Niehues R.... Marquardt T. (J. Clin. Invest. 1998)
    6. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (J. Med. Genet. 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. (J. Med. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 4351 HGNC: 7216 AceView: MPI Ensembl:ENSG00000178802 euGenes: HUgn4351
    ECgene: MPI Kegg: 4351 H-InvDB: MPI

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MPI Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MPI[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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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