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

MPPE1 Gene

protein-coding   GIFtS: 51
GCID: GC18M012841

Metallophosphoesterase 1

  See related disease
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
Metallophosphoesterase 11 2
Post-GPI Attachment To Proteins Factor 52 3
PGAP52 3
Metallo Phosphoesterase2
EC 3.1.-.-3

External Ids:    HGNC: 159881   Entrez Gene: 652582   Ensembl: ENSG000001548897   OMIM: 6119005   UniProtKB: Q53F393   

Export aliases for MPPE1 gene to outside databases

Previous GC identifers: GC18P012145 GC18M011940 GC18M011873 GC18M011883 GC18M012550


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

GeneCards Summary for MPPE1 Gene: 
MPPE1 (metallophosphoesterase 1) is a protein-coding gene. Diseases associated with MPPE1 include bipolar disorder. GO annotations related to this gene include manganese ion binding and GPI anchor binding.

UniProtKB/Swiss-Prot: MPPE1_HUMAN, Q53F39
Function: Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to
the Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain
ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient
transport of GPI-anchor proteins




(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_000018.9  NC_018929.2  NT_010859.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MPPE1 gene promoter:
         TBP   HNF-1   TFIID   Bach2   HOXA5   c-Myb   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPPE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MPPE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPPE1


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

Entrez Gene cytogenetic band: 18p11.21   Ensembl cytogenetic band:  18p11.21   HGNC cytogenetic band: 18p11.21

MPPE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPPE1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M012841:  view genomic region     (about GC identifiers)

Start:
11,882,621 bp from pter      End:
11,909,222 bp from pter
Size:
26,602 bases      Orientation:
minus 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: MPPE1_HUMAN, Q53F39 (See protein sequence)
Recommended Name: Metallophosphoesterase 1  
Size: 396 amino acids; 45141 Da
Cofactor: Binds 2 manganese ions per subunit (Probable)
Subunit: Interacts with GPI-anchor proteins. Interacts with TMED10
Subcellular location: Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein.
Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein. Note=Also localizes to endoplasmic
reticulum exit site
Sequence caution: Sequence=BAB13863.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14378.1; Type=Frameshift; Positions=201;
Secondary accessions: B0YJ39 B0YJ40 B0YJ41 B5ME53 B7WNJ3 D3DUI5 D3DUI7 Q6GMP1 Q8TAD6 Q8TE26
Q8WZ32 Q9BU58 Q9H958 Q9HAI4
Alternative splicing: 5 isoforms:  Q53F39-1   Q53F39-2   Q53F39-3   Q53F39-4   Q53F39-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MPPE1: NX_Q53F39

Explore proteomics data for MPPE1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53F39

  • MPPE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MPPE1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001229833.1  NP_075563.3  

    ENSEMBL proteins: 
     ENSP00000465894   ENSP00000327257   ENSP00000433950   ENSP00000312935   ENSP00000311200  
     ENSP00000339423   ENSP00000464842   ENSP00000466291   ENSP00000468606   ENSP00000466303  
     ENSP00000467993   ENSP00000467698   ENSP00000465318   ENSP00000468639   ENSP00000468065  
     ENSP00000467703   ENSP00000468269   ENSP00000467599   ENSP00000382860  

    Human Recombinant Protein Products for MPPE1: 
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    Novus Biologicals MPPE1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MPPE1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment ISS--
    GO:0005794Golgi apparatus IEA--
    GO:0005801cis-Golgi network ISS--
    GO:0016021integral to membrane IEA--
    GO:0033116endoplasmic reticulum-Golgi intermediate compartment membrane IEA--

    MPPE1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for MPPE1 
    Cloud-Clone Corp. CLIAs for MPPE1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR024654 Calcineurin-like_PEstase_dom

    Graphical View of Domain Structure for InterPro Entry Q53F39

    ProtoNet protein and cluster: Q53F39

    UniProtKB/Swiss-Prot: MPPE1_HUMAN, Q53F39
    Domain: The di-lysine motif (KxKxx) acts as an endoplasmic reticulum retrieval signal
    Similarity: Belongs to the metallophosphoesterase superfamily. MPPE1 family


    MPPE1 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: MPPE1_HUMAN, Q53F39
    Function: Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to
    the Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain
    ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient
    transport of GPI-anchor proteins

         Enzyme Number (IUBMB): EC 3.1.-.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008081phosphoric diester hydrolase activity ISS--
    GO:0016787hydrolase activity ----
    GO:0030145manganese ion binding ISS--
    GO:0034235GPI anchor binding ISS--
         
    MPPE1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Mppe1 (no phenotypes)

    MPPE1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MPPE1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MPPE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MPPE1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MPPE1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPPE1
    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate MPPE1 (see all 10):
    hsa-miR-146a hsa-let-7a-2* hsa-miR-570 hsa-miR-3161 hsa-let-7g* hsa-miR-3674 hsa-miR-3662 hsa-miR-589
    SwitchGear 3'UTR luciferase reporter plasmidMPPE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPPE1


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MPPE1

    5/9 Interacting proteins for MPPE1 (Q53F393) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRNKL1Q9BZJ03I2D: score=4 
    ERHP840903I2D: score=4 
    INTS10Q9NVR23I2D: score=4 
    KIFAP3Q928453I2D: score=4 
    LIPAP385713I2D: score=4 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006506GPI anchor biosynthetic process ISS--
    GO:0006888ER to Golgi vesicle-mediated transport ISS--

    MPPE1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MPPE1

    Search CenterWatch for drugs/clinical trials and news about MPPE1

    (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 MPPE1 gene (3 alternative transcripts): 
    NM_138608.2  NM_001242904.1  NM_023075.5  

    Unigene Cluster for MPPE1:

    Metallophosphoesterase 1
    Hs.712666  [show with all ESTs]
    Unigene Representative Sequence: NR_040243
    18/31 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31):
    ENST00000588072 ENST00000317235(uc002kqg.3 uc002kqh.3 uc002kqi.3 uc002kqf.3 uc002kqn.3 uc002kqm.3)
    ENST00000496196 ENST00000317251 ENST00000309976(uc010dla.2) ENST00000344987
    ENST00000592755 ENST00000592447 ENST00000592306 ENST00000592894 ENST00000587724
    ENST00000592977 ENST00000589731 ENST00000592331 ENST00000588186 ENST00000588191
    ENST00000589267 ENST00000586364
    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate MPPE1 (see all 10):
    hsa-miR-146a hsa-let-7a-2* hsa-miR-570 hsa-miR-3161 hsa-let-7g* hsa-miR-3674 hsa-miR-3662 hsa-miR-589
    SwitchGear 3'UTR luciferase reporter plasmidMPPE1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MPPE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPPE1
    Clone
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    OriGene clones in human, mouse for MPPE1 (see all 6)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPPE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPPE1
    Sirion Biotech Customized lentivirus for stable overexpression of MPPE1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPPE1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPPE1

    Additional mRNA sequence: 

    AF363484.1 AK054639.1 AK223450.1 AK309948.1 AL833636.1 BC002877.2 DQ786245.1 NR_040241.1 
    NR_040242.1 NR_040243.1 

    17 DOTS entries:

    DT.97845878  DT.112658  DT.97815437  DT.121086715  DT.100823139  DT.92430583  DT.95289650  DT.100823146 
    DT.97818258  DT.100653720  DT.95188820  DT.100823145  DT.444187  DT.91717413  DT.97845879  DT.100823138 
    DT.100823147 

    24/184 AceView cDNA sequences (see all 184):

    BX429291 BU732430 BE218931 AI348585 CR595199 BM807059 BX388179 BQ773749 
    AX775853 BU688654 AW969558 CR591893 BF507761 BM709282 BC002877 AI989343 
    BM966916 AA827103 BM666627 BG740732 CR611565 AI651909 BQ001785 CA489335 

    GeneLoc Exon Structure

    5/25 Alternative Splicing Database (ASD) splice patterns (SP) for MPPE1 (see all 25)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ·
    SP1:                                            -                 -     -     -     -     -     -     -     -     -     -     -     -                           
    SP2:                                            -                 -     -     -     -     -     -     -     -     -     -                                       
    SP3:                                            -                 -     -     -     -     -     -     -     -     -     -                                       
    SP4:                                            -     -     -     -     -     -     -     -     -     -     -     -     -                                       
    SP5:                                            -     -     -     -     -     -     -     -     -     -     -     -     -                                       

    ExUns: 13e ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c · 23d
    SP1:                                                  -                 -           -                                 
    SP2:        -                                         -                 -           -                                 
    SP3:        -                                         -                 -           -     -                           
    SP4:        -                                         -     -     -     -           -     -                           
    SP5:        -                                         -                                                               


    ECgene alternative splicing isoforms for MPPE1

    (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

    MPPE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACGACAGTC
    MPPE1 Expression
    About this image


    See MPPE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MPPE1

    SOURCE GeneReport for Unigene cluster: Hs.712666

    UniProtKB/Swiss-Prot: MPPE1_HUMAN, Q53F39
    Tissue specificity: Expressed in brain

        SABiosciences Custom PCR Arrays for MPPE1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPPE1
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPPE1

    (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 MPPE1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mppe11 , 5 metallophosphoesterase 11, 5 78.41(n)1
    75.39(a)1
      18 (39.90 cM)5
    2256511  NM_172630.21  NP_766218.11 
     672255305 
    chicken
    (Gallus gallus)
    Aves MPPE11 metallophosphoesterase 1 70.53(n)
    67.11(a)
      421031  NM_001039283.1  NP_001034372.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mppe11 metallophosphoesterase 1 59.49(n)
    56.4(a)
      550396  NM_001017701.1  NP_001017701.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG84551 , 3 CG84551 43(a)3
    51.24(n)1
    43.92(a)1
      28F13
    341161  NM_135347.21  NP_609191.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0511.131 , 3 Protein B0511.131 33(a)3
    46.92(n)1
    39.17(a)1
      I(10641572-10644059)3
    1729561  NM_060381.31  NP_492782.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC1(YDR182W)4 Putative lipid phosphatase of the endoplasmic reticulum; more   --   4(827582-829057) 851763  NP_010468.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G537101 hydrolase/ protein serine/threonine phosphatase 42.59(n)
    30.41(a)
      841809  NM_104249.2  NP_175775.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g03973001 hypothetical protein 42.4(n)
    32.46(a)
      4333043  NM_001056835.1  NP_001050300.1 


    ENSEMBL Gene Tree for MPPE1 (if available)
    TreeFam Gene Tree for MPPE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MPPE1 gene

    MPPE1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for MPPE1
    PGOHUM00000247880 PGOHUM00000246265 PGOHUM00000245532


    (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

    10/652 SNPs in MPPE1 are shown (see all 652)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0382974
    ----see VAR_0382972 M L mis40--------
    rs169768191,2
    C,F,H--11886194(+) TTTTCA/GGTTCC 5 -- int19Minor allele frequency- G:0.09NA NS EA WA 798
    rs12499011,2
    H--11886246(+) AATACA/CAAGAA 5 -- int15Minor allele frequency- C:0.00MN NS EA 600
    rs343145121,2
    C--11886314(+) AAAAA-/AGCGAT 5 -- int11Minor allele frequency- A:0.50NA 2
    rs116602681,2
    H--11886342(+) TACTGT/AGAAAG 5 -- int14Minor allele frequency- A:0.00NS EA 414
    rs767600611,2
    C--11886387(+) TAAGTC/GATGAA 5 -- int10--------
    rs1832999061,2
    C--11886464(+) CACTGC/TGACAT 5 -- int10--------
    rs1458705731,2
    F--11886514(+) CCTCCC/TGTGAA 6 Q R int1 nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4544
    rs1399062471,2
    C--11886515(+) CTCCCG/ATGAAA 6 /R /W int1 nc-transcript-variantmis11Minor allele frequency- A:0.00NA 4544
    rs2005789761,2
    --11886562(+) CCTCTA/GCAGGA 6 A V int1 nc-transcript-variantmis10--------

    HapMap Linkage Disequilibrium report for MPPE1 (11882621 - 11909222 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MPPE1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664848CNV Deletion23128226
    nsv909382CNV Loss21882294
    nsv909384CNV Gain21882294
    nsv833590CNV Gain17160897
    nsv909383CNV Gain21882294
    dgv1011e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611900    OMIM disorders: --

    2 diseases for MPPE1:    About MalaCards
    bipolar disorder    


    MPPE1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MPPE1
    Human Genome Epidemiology (HuGE) Navigator: MPPE1 (2 documents)

    Export disorders for MPPE1 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 MPPE1 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with MPPE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning, genomic organization and expression of the novel human metallophosphoesterase gene MPPE1 on chromosome 18p11.2. (PubMed id 11978971)1, 2, 3 Vuoristo J.T. and Ala-Kokko L. (2001)
    2. Association between polymorphisms in the metallophosp hoesterase (MPPE1) gene and bipolar disorder. (PubMed id 19859903)1, 4, 9 Lohoff F.W....Bloch P.J. (2010)
    3. GPI glycan remodeling by PGAP5 regulates transport of GPI-anchored proteins from the ER to the Golgi. (PubMed id 19837036)1, 2 Fujita M....Kinoshita T. (2009)
    4. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PubMed id 19328558)1, 4 Yosifova A....Nakamura Y. (2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (2005)
    9. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)2 Wan D....Gu J. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

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

      Query String
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    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: 65258 HGNC: 15988 AceView: MPPE1 Ensembl:ENSG00000154889 euGenes: HUgn65258
    ECgene: MPPE1 H-InvDB: MPPE1

    (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 MPPE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MPPE1 gene:
    Search GeneIP for patents involving MPPE1

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



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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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