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

MPI Gene

protein-coding   GIFtS: 65
GCID: GC15P075182

mannose phosphate isomerase
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Aliases
for MPI gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Mannose Phosphate Isomerase1 2     Mannose-6-Phosphate Isomerase2
PMI12 3 5     Phosphohexomutase3
PMI2 3     Phosphomannose Isomerase 12
EC 5.3.1.83 8     Phosphohexomutase3
CDG1B2 5     Phosphomannose Isomerase3
Mannose-6- Phosphate Isomerase2     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


Summaries
for MPI gene

(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:
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)

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




Genomic Views
for MPI gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
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 plasmid: MPI 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: 15q22-qter   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q22-qter

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

Proteins
for MPI gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: MPI
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    Novus Biologicals MPI Proteins
    Novus Biologicals MPI Lysates
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    ProSpec Recombinant Protein for MPI
    Uscn 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



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    ThermoFisher Antibodies for MPI

    Assay Products for MPI: 
    Browse Kits and Assays available from EMD Millipore
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    Uscn ELISAs and CLIAs for MPI

    Protein Domains /
    Families
    for MPI gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MPI for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: IPB001250 Mannose-6-phosphate isomerase

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


    Function
    for MPI gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: MPI
    Browse MicroRNA Expression Plasmids
    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 plasmid: MPI 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPI (see all 4)
    OriGene shRNA RFP: MPI
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPI

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPI (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPI (see all 2)
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    GenScript: all cDNA clones in your preferred vector: MPI (NM_002435)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPI 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for MPI
    Search LifeMap BioReagents cell lines for MPI

    In Situ Assay
    Products:       
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    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


    1 GenomeRNAi human phenotype for MPI:
     Proliferating cells 

    Animal Models:
         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


    Pathways & Interactions
    for MPI gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Metabolism of proteins0.15
    		Post-translational protein modification0.44
    2GDP-mannose biosynthesis
    		GDP-mannose biosynthesis1.00
    		colanic acid building blocks biosynthesis0.36
    		Synthesis of GDP-mannose0.80
    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 protein1.00
    		Synthesis of substrates in N-glycan biosythesis0.53
    4D-mannose degradation
    		D-mannose degradation1.00
    5Amino sugar and nucleotide sugar metabolism
    		Amino sugar and nucleotide sugar metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/6        Reactome Pathways for MPI (see all 6)
        Synthesis of substrates in N-glycan biosythesis
    Asparagine N-linked glycosylation
    Metabolism of proteins
    Post-translational protein modification
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein


    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



    Drugs & Compounds
    for MPI gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for MPI gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    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 plasmid: MPI 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPI (see all 4)
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    Clone
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    Primer
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    Additional cDNA 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):

    BQ069734 BP334732 NM_002435 AI186646 BU902055 BM836891 BP357065 BE206499 
    BX364196 BM468603 CB242133 BM802202 AW072360 BM988234 AA350316 BE278834 
    BP355228 BG333150 F04326 CF272348 BM789157 N93491 BQ022184 BI754727 

    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

    Expression
    for MPI gene

    (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
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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

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    In Situ
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    Orthologs
    for MPI gene

    (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 last universal common ancestor (LUCA).

    Orthologs for MPI gene from 11/35 species (see all 35)    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
    		 --
    		 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
    51.35(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 of fructose-6-P and mannose-6-P; required for early steps in protein mannosylation less4
    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 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
    for MPI gene

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

    Genomic Variants
    for MPI gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/198 NCBI SNPs in MPI are shown (see all 198)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048944941,2
    		Cpathogenic75183880(+) GCTCTC/TAGTTG 2 S L mis10--------
    rs1048944951,2
    		Cpathogenic75185069(+) AGAGAC/TGGCCA 2 T M mis10--------
    rs289289061,2
    		Cpathogenic75189391(+) AGTTCG/ATGCTG 2 /H /R mis1 ese32Minor allele frequency- A:0.00NA 4
    rs96730651,2
    		C,A,--75180892(+) cgggcG/Tggggg 1 -- us2k12Minor allele frequency- T:0.00NA 4
    rs80319371,2
    		C,F,H,--75181121(+) CACATG/ATGGTA 1 -- us2k129Minor allele frequency- A:0.28NS EA NA WA CSA 2773
    rs2013522101,2
    		C--75181138(-) CTCATC/TCNNNN 1 -- us2k10--------
    rs1891090221,2
    		--75181195(+) TTCCAG/TGTTCC 1 -- us2k10--------
    rs751289701,2
    		C,--75181397(+) TCCTTC/TCCTAT 1 -- us2k14Minor allele frequency- T:0.15CSA WA NA EA 360
    rs1433435451,2
    		--75181466(+) TGGAGC/TAGAAG 1 -- us2k10--------
    rs1809638941,2
    		--75181574(+) CCTCCA/GACAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MPI (75182346 - 75191798 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MPI
         1 Inversion: 37170
    Human Gene Mutation Database (HGMD): MPI

    Locus Specific Mutation Databases (LSDB): MPI

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MPI
    DNA2.0 Custom Variant and Variant Library Synthesis for MPI

    Disorders / Diseases
    for MPI gene

    (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
    MPI for disorders           About GeneDecksing

    OMIM gene information: 154550   
    OMIM disorders: 602579  
    UniProtKB/Swiss-Prot: MPI_HUMAN, P34949
  • Defects in MPI are the cause of congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]; also known
    • as carbohydrate-deficient glycoprotein syndrome type Ib (CDGS1B). Congenital disorders of glycosylation are metabolic
    deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are
    characterized by under-glycosylated serum glycoproteins. CDG1B is clinically characterized by protein-losing
    enteropathy

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

    2 diseases from the University of Copenhagen DISEASES database for MPI:
    Glanzmann's thrombasthenia     protein-losing enteropathy

    5 Novoseek 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
    Congenital Disorders of Glycosylation

    Human Genome Epidemiology (HuGE) Navigator: MPI (3 documents)

    Export disorders for MPI gene to outside databases

    Publications
    for MPI gene

    (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 65):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. 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)
    9. 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)
    10. Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. (PubMed id 9585601)1, 2 Jaeken J.... Van Schaftingen E. (1998)

    External Searches for MPI gene

    (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)

    Genome Databases showing MPI gene

    (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

    Other Databases showing MPI gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MPI gene

    (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

    Intellectual Property
    for MPI gene

    (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



    Products
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    About This Section

     
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