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MPP1 Gene

protein-coding   GIFtS: 60
GCID: GC0XM154006

Membrane Protein, Palmitoylated 1, 55kDa

(Previous names: membrane protein, palmitoylated 1 (55kD))
(Previous symbol: DXS552E)
Microbiology & Infectious Diseases Congress
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(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
Membrane Protein, Palmitoylated 1, 55kDa1 2     MRG12
DXS552E1 2 3     Aging-Associated Gene 122
EMP552 3 5     Erythrocyte Membrane Protein P552
p552 3     Migration-Related Gene 12
PEMP2 5     Palmitoylated Erythrocyte Membrane Protein2
Membrane Protein, Palmitoylated 1 (55kD)1     Membrane Protein, Palmitoylated 13
55 KDa Erythrocyte Membrane Protein2     EC 2.7.118
AAG122     

External Ids:    HGNC: 72191   Entrez Gene: 43542   Ensembl: ENSG000001308307   OMIM: 3053605   UniProtKB: Q000133   

Export aliases for MPP1 gene to outside databases

Previous GC identifers: GC0XM148070 GC0XM150387 GC0XM151592 GC0XM152474 GC0XM153570 GC0XM153660 GC0XM142550


(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 MPP1 Gene:
This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs
interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions.
The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src
homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal
proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation
of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor
suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Oct 2009)

GeneCards Summary for MPP1 Gene:
MPP1 (membrane protein, palmitoylated 1, 55kDa) is a protein-coding gene. Diseases associated with MPP1 include primary pulmonary lymphoma, and extramedullary plasmacytoma. GO annotations related to this gene include guanylate kinase activity. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot: EM55_HUMAN, Q00013
Function: Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1
phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity)

Gene Wiki entry for MPP1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPP1 gene promoter:
         GATA-3   FOXF2   FOXD3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   HNF-3beta   GATA-2   GATA-1   NF-kappaB1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPP1 promoter sequence
   Search Chromatin IP Primers for MPP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MPP1


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

MPP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPP1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM154006:  view genomic region     (about GC identifiers)

Start:
154,006,959 bp from pter      End:
154,049,282 bp from pter
Size:
42,324 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: EM55_HUMAN, Q00013 (See protein sequence)
Recommended Name: 55 kDa erythrocyte membrane protein  
Size: 466 amino acids; 52296 Da
Subunit: Heterodimer with MPP5. Interacts with DLG5 and NF2. Interacts (via guanylate kinase-like domain) with
WHRN (via third PDZ domain)
3 PDB 3D structures from and Proteopedia for MPP1:
2EJY (3D)        2EV8 (3D)        3NEY (3D)    
Secondary accessions: B4DZV5 G3XAI1 Q2TSB6 Q5J7V5
Alternative splicing: 3 isoforms:  Q00013-1   Q00013-2   Q00013-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MPP1: NX_Q00013

Explore proteomics data for MPP1 at MOPED

Post-translational modifications: 

  • Extensively palmitoylated by ZDHHC17, palmitoylation is essential for membrane organization and is crucial for
    proper erythrocytes morphology1
  • Ubiquitination2 at Lys76, Lys91, Lys386
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for MPP1 (Q00013)
     PQWVPVSW  AGLIPSPELQEWR 


    See MPP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001159932.1  NP_001159933.1  NP_001159934.1  NP_002427.1  

    ENSEMBL proteins: 
     ENSP00000358547   ENSP00000400700   ENSP00000377165   ENSP00000410888   ENSP00000377163  
     ENSP00000391701   ENSP00000389321   ENSP00000358544   ENSP00000400155  

    MPP1 Human Recombinant Protein Products:

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    Novus Biologicals MPP1 Proteins
    Novus Biologicals MPP1 Lysates
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    Cloud-Clone Corp. Proteins for MPP1

    MPP1 Antibody Products:

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    MPP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MPP1
    Cloud-Clone Corp. CLIAs for MPP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR008144 Guanylate_kin-like
     IPR008145 GK/Ca_channel_bsu
     IPR001452 SH3_domain
     IPR011511 SH3_2
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q00013

    ProtoNet protein and cluster: Q00013

    4 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB001478 PDZ/DHR/GLGF domain
    IPB008144 Guanylate kinase
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: EM55_HUMAN, Q00013
    Similarity: Belongs to the MAGUK family
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 SH3 domain


    MPP1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EM55_HUMAN, Q00013
    Function: Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1
    phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity)

         Genatlas biochemistry entry for MPP1:
    erythrocyte surface protein,palmitoylated,55kDa,involved in coupling the cytoskeleton to the cell membrane
    (protein 4.1)

         Enzyme Number (IUBMB): EC 2.7.112

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004385guanylate kinase activity TAS1310897
    GO:0005515protein binding IPI17584769
         
    MPP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MPP1:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica  

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mpp1):
     cellular  hematopoietic system  immune system  reproductive system 

    MPP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mpp1tm1Ahc for MPP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MPP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MPP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MPP1

    miRNA
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    miRTarBase miRNAs that target MPP1:
    hsa-mir-15b-5p (MIRT046417)

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    Selected qRT-PCR Assays for microRNAs that regulate MPP1 (see all 14):
    hsa-miR-3678-3p hsa-miR-3140-3p hsa-miR-137 hsa-miR-92a hsa-miR-2278 hsa-miR-367 hsa-miR-25 hsa-miR-1271
    SwitchGear 3'UTR luciferase reporter plasmidMPP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MPP1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): MPP1 (NM_002436)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPP1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for MPP1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP1


    (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
    EM55_HUMAN, Q00013: Membrane; Lipid-anchor. Cell projection, stereocilium (By similarity). Note=Colocalizes with
    WHRN at stereocilium tip during hair cell development (By similarity). Colocalizes with MPP5 in the retina, at
    the outer limiting membrane (OLM). Colocalizes with WHRN in the retina, at the outer limiting membrane (OLM),
    outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). Colocalizes with NF2 in
    non-myelin-forming Schwann cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    cytoskeleton2
    nucleus2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005887integral component of plasma membrane TAS1713685
    GO:0016020membrane TAS1713685
    GO:0030863cortical cytoskeleton IEA--
    GO:0032420stereocilium IEA--

    MPP1 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MPP1
    Interactions:

        Search GeneGlobe Interaction Network for MPP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for MPP1 (Q000131, 2, 3 ENSP000003585474) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SGSM2O431472, 3, ENSP000002689894MINT-64870 I2D: score=5 STRING: ENSP00000268989
    STUB1Q9UNE72, 3, ENSP000002195484MINT-65548 I2D: score=5 STRING: ENSP00000219548
    SMN1Q166372, 3MINT-8271311 I2D: score=2 
    SMN2Q166372, 3MINT-8271311 I2D: score=2 
    GADD45AP245222, 3MINT-8255956 I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS1713685
    GO:0046939nucleotide phosphorylation TAS1310897
    GO:0090022regulation of neutrophil chemotaxis ISS--

    MPP1 for ontologies           About GeneDecksing



    (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 MPP1 (EM55)

    6 Novoseek inferred chemical compound relationships for MPP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 64.5 3 8601581 (1), 19144827 (1)
    guanylate 44.5 8 8824805 (2), 17572384 (1), 16829577 (1), 8132590 (1) (see all 6)
    ganglioside 6.85 1 17204262 (1)
    lipid 5.14 2 19131362 (1)
    glucose 4.26 1 16516346 (1)
    tyrosine 0 1 2108066 (1)



    MPP1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MPP1 gene (4 alternative transcripts): 
    NM_001166460.1  NM_001166461.1  NM_001166462.1  NM_002436.3  

    Unigene Cluster for MPP1:

    Membrane protein, palmitoylated 1, 55kDa
    Hs.496984  [show with all ESTs]
    Unigene Representative Sequence: AK093702
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369534 ENST00000491955 ENST00000482757 ENST00000439370 ENST00000393531
    ENST00000453245 ENST00000494170 ENST00000462825 ENST00000493871 ENST00000393529
    ENST00000475943(uc010nvh.2) ENST00000428488 ENST00000488754 ENST00000417435
    ENST00000488694 ENST00000369531 ENST00000471821 ENST00000413259(uc011mzv.2 uc010nvg.2 uc011mzw.2 uc004fmp.2)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MPP1 (see all 14):
    hsa-miR-3678-3p hsa-miR-3140-3p hsa-miR-137 hsa-miR-92a hsa-miR-2278 hsa-miR-367 hsa-miR-25 hsa-miR-1271
    SwitchGear 3'UTR luciferase reporter plasmidMPP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MPP1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): MPP1 (NM_002436)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPP1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat MPP1
      QuantiFast Probe-based Assays in human, mouse, rat MPP1

    Additional mRNA sequence: 

    AK093702.1 AK223396.1 AK290246.1 AK303111.1 AK304538.1 AK310681.1 AK311541.1 AK312296.1 
    AK315957.1 AY423731.1 AY634686.1 BC002392.2 M64925.1 

    14 DOTS entries:

    DT.455170  DT.100846113  DT.100846116  DT.100701130  DT.100846098  DT.95108094  DT.100664199  DT.100846106 
    DT.95215464  DT.121320408  DT.100689634  DT.100846103  DT.91749594  DT.91749595 

    Selected AceView cDNA sequences (see all 318):

    AW249497 AW248512 AW243437 BF220086 H95076 BM661765 AI910728 BQ006290 
    AA323460 BU664065 CA439558 BI757370 AA368927 BQ709095 AI433899 F05783 
    F02885 F04101 CR605122 AU121424 CK906033 BU625009 CR606052 BU661837 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MPP1 (see all 13)    About this scheme

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

    ExUns: 9d ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b
    SP1:  -                 -     -     -                           
    SP2:  -                                                         
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for MPP1

    (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)
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    MPP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGGCACCA
    MPP1 Expression
    About this image


    MPP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
     
     Placenta (Extraembryonic Tissues)
    MPP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.496984

    UniProtKB/Swiss-Prot: EM55_HUMAN, Q00013
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MPP1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpp11 , 5 membrane protein, palmitoylated1, 5 89.06(n)1
    92.92(a)1
      X (38.15 cM)5
    175241  NM_008621.21  NP_032647.11 
     751097335 
    chicken
    (Gallus gallus)
    Aves MPP11 membrane protein, palmitoylated 1, 55kDa 80.26(n)
    83.48(a)
      422197  NM_001007917.2  NP_001007918.1 
    lizard
    (Anolis carolinensis)
    Reptilia MPP16
    membrane protein, palmitoylated 1, 55kDa
    79(a)
    1 ↔ 1
    GL343202.1(2111202-2143020)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC535002 similar to membrane protein, palmitoylated 1, 55kDa 74.88(n)    BC047257.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mpp11 membrane protein, palmitoylated 1 65.73(n)
    64.64(a)
      325542  NM_214692.1  NP_999857.1 


    ENSEMBL Gene Tree for MPP1 (if available)
    TreeFam Gene Tree for MPP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MPP1 gene
    MPP72  DLG32  MPP62  MPP52  DLG22  MPP22  MPP42  DLG42  
    DLG12  CASK2  MPP32  
    9 SIMAP similar genes for MPP1 using alignment to 7 protein entries:     EM55_HUMAN (see all proteins):
    CASK    MPP6    DKFZp666F1010    MPP2    DLG2    MPP5
    MPP7    MPP3    MPP4

    MPP1 for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for MPP1 (see all 377)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1909603671,2
    --153875095(+) GCGAGG/TCCCTG 4 -- ds50010--------
    rs128508361,2
    C,H--153875144(+) CCCCAG/TCCCTG 4 -- ds50011Minor allele frequency- T:0.00NS 286
    rs1834095511,2
    --153875362(+) GGCATC/TTTGTG 4 -- ds50010--------
    rs1134547251,2
    C--153875445(+) GTCATA/C/TGGCAT 8 -- ut311CSA 1
    rs1889637711,2
    --153875463(+) CAGCAC/TTTTTA 4 -- ut310--------
    rs1925059091,2
    --153875493(+) TAGAGA/CAGACA 4 -- ut310--------
    rs1828001011,2
    --153875595(+) AGCATA/GTACAG 4 -- ut310--------
    rs18041511,2
    C--153875605(-) TTGCCT/CTCAAC 4 -- ut31 ese33Minor allele frequency- C:0.00MN NA 188
    rs10427021,2
    C--153875627(-) TCCCTC/TTAAAG 4 -- ut31 ese32Minor allele frequency- T:0.00NA 4
    rs1880082861,2
    --153875685(+) TTTTGC/GTAGTA 4 -- ut310--------

    HapMap Linkage Disequilibrium report for MPP1 (154006959 - 154049282 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MPP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516158CNV Gain19592680
    esv29972CNV Gain17803354
    esv33784CNV Gain+Loss17666407

    Locus Specific Mutation Databases (LSDB): MPP1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MPP1
    DNA2.0 Custom Variant and Variant Library Synthesis for MPP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 305360    OMIM disorders: --

    Selected diseases for MPP1 (see all 30):    
    About MalaCards
    primary pulmonary lymphoma    extramedullary plasmacytoma    tetanus    plasmacytoma
    folliculitis    acquired immunodeficiency syndrome    burkitt's lymphoma    ehrlichiosis
    nasopharyngitis    idiopathic pulmonary fibrosis    papillary thyroid carcinoma    pulmonary fibrosis
    anaplastic large cell lymphoma    chronic myeloid leukemia    oral squamous cell carcinoma    tuberculosis
    myelodysplastic syndromes    malaria    pneumonia    hypoxia


    MPP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for MPP1 gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nasopharyngeal carcinoma 79.6 19 11448908 (1), 15565804 (1), 17103409 (1), 18710612 (1) (see all 19)
    ebv infections 69.2 1 9769285 (1)
    burkitt lymphoma 59 2 10092782 (1), 8157362 (1)
    latent infection 58.1 9 10602470 (1), 11932422 (1), 7859281 (1), 10451485 (1) (see all 8)
    hodgkin disease 44.6 6 17379070 (2), 12796376 (1), 1328576 (1), 9354006 (1) (see all 5)
    lymphoma 37.4 2 9367385 (1), 11781710 (1)
    tumors 35.7 15 9769285 (1), 7590743 (1), 12607539 (1), 19638292 (1) (see all 14)
    necrosis 18.3 6 8733441 (2), 12607539 (1), 11007952 (1), 15322249 (1) (see all 5)
    metastasis 10.7 3 18710612 (1), 16718270 (1), 12168795 (1)
    tetanus 8.39 1 17335083 (1)


    Export disorders for MPP1 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)
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    PubMed articles for MPP1 gene, integrated from 10 sources (see all 230):
    (articles sorted by number of sources associating them with MPP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular identification of a major palmitoylated erythrocyte membrane protein containing the src homology 3 motif. (PubMed id 1713685)1, 2, 3 Ruff P.... Husain-Chishti A. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene. (PubMed id 1301163)1, 2, 9 Metzenberg A.B. and Gitschier J. (Hum. Mol. Genet. 1992)
    3. Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin. (PubMed id 19144871)1, 2, 9 Seo P.-S.... Chishti A.H. (Exp. Biol. Med. 2009)
    4. Palmitoylation of MPP1 (membrane-palmitoylated protein 1)/p55 is crucial for lateral membrane organization in erythroid cells. (PubMed id 22496366)1, 2 Lach A.... Sikorski A.F. (J. Biol. Chem. 2012)
    5. MPP1 links the Usher protein network and the Crumbs protein complex in the retina. (PubMed id 17584769)1, 2 Gosens I.... Roepman R. (Hum. Mol. Genet. 2007)
    6. Solution structure of human erythroid p55 PDZ domain. (PubMed id 16741958)1, 2 Kusunoki H. and Kohno T. (Proteins 2006)
    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. Complete genomic organization of the human erythroid p55 gene (MPP1), a membrane-associated guanylate kinase homologue. (PubMed id 8824805)1, 9 Kim A.C....Chishti A.H. (Genomics 1996)
    10. Alternatively spliced exon 5 of the FERM domain of protein 4.1R encodes a novel binding site for erythrocyte p55 and is critical for membrane targeting in epithelial cells. (PubMed id 18952129)1, 9 Seo P.S....Chishti A.H. (Biochim. Biophys. Acta 2009)

    (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)
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    Entrez Gene: 4354 HGNC: 7219 AceView: MPP1 Ensembl:ENSG00000130830 euGenes: HUgn4354
    ECgene: MPP1 H-InvDB: MPP1

    (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)
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    NameDescription
    PharmGKB entry for MPP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MPP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MPP1 gene:
    Search GeneIP for patents involving MPP1

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



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