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    MPP3 MAGUK p55 scaffold protein 3 [ Homo sapiens (human) ]

    Gene ID: 4356, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MPP3provided by HGNC
    Official Full Name
    MAGUK p55 scaffold protein 3provided by HGNC
    Primary source
    HGNC:HGNC:7221
    See related
    Ensembl:ENSG00000161647 MIM:601114; AllianceGenome:HGNC:7221
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DLG3
    Summary
    This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in heart (RPKM 3.1), lung (RPKM 2.5) and 23 other tissues See more
    Orthologs
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    Genomic context

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    See MPP3 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43800811..43833146, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44653356..44685702, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41878179..41910514, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene dual specificity phosphatase 3 Neighboring gene Sharpr-MPRA regulatory region 13819 Neighboring gene CFAP97 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8569 Neighboring gene uncharacterized LOC107984979 Neighboring gene uncharacterized LOC107985077 Neighboring gene CD300 molecule like family member g

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [The growth inhibition effects of TSLC1 gene on human hepatocyte carcinoma cell line HepG2]. Qin L, et al. Zhonghua Gan Zang Bing Za Zhi, 2007 Jul. PMID 17669239
    2. MPP3 inactivation by promoter CpG islands hypermethylation in colorectal carcinogenesis. Feng X, et al. Cancer Biomark, 2012. PMID 23011156
    3. Isolation of a gene (DLG3) encoding a second member of the discs-large family on chromosome 17q12-q21. Smith SA, et al. Genomics, 1996 Jan 15. PMID 8824795
    4. Association of a lung tumor suppressor TSLC1 with MPP3, a human homologue of Drosophila tumor suppressor Dlg. Fukuhara H, et al. Oncogene, 2003 Sep 18. PMID 13679854
    5. Membrane palmitoylated protein 3 promotes hepatocellular carcinoma cell migration and invasion via up-regulating matrix metalloproteinase 1. Ma H, et al. Cancer Lett, 2014 Mar 1. PMID 24513266

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. a central role of CADM1 in stabilizing the complex with 4.1B and MPP3
      Title: Dynamic regulation of a cell adhesion protein complex including CADM1 by combinatorial analysis of FRAP with exponential curve-fitting.
    2. MPP3 and Dlg, membrane-associated guanylate kinase homologs (MAGuK) proteins, connect CADM1 with p85 of PI3K by forming a multi-protein complex at the periphery of cells.
      Title: Trans-homophilic interaction of CADM1 activates PI3K by forming a complex with MAGuK-family proteins MPP3 and Dlg.
    3. MPP3 plays an important role in hepatocellular carcinoma metastasis by promoting cell migration and invasion via up-regulating MMP1
      Title: Membrane palmitoylated protein 3 promotes hepatocellular carcinoma cell migration and invasion via up-regulating matrix metalloproteinase 1.
    4. Data suggested that epigenetic inactivation of MPP3 frequently occurred during the development of colorectal cancer and might also be a potential biomarker for molecular classification of colorectal cancer patients.
      Title: MPP3 inactivation by promoter CpG islands hypermethylation in colorectal carcinogenesis.
    5. TSLC1 strongly inhibits the growth of HepG2 cells in vitro and induces apoptosis.
      Title: [The growth inhibition effects of TSLC1 gene on human hepatocyte carcinoma cell line HepG2].
    6. MPP3, a human homologue of a Drosophila tumor suppressor gene (Discs large), associates with TSCL1, a tumor suppressor gene.
      Title: Association of a lung tumor suppressor TSLC1 with MPP3, a human homologue of Drosophila tumor suppressor Dlg.
    7. These data implicate a role for MPP3 in photoreceptor polarity and, by association with MPP5, pinpoint MPP3 as a functional candidate gene for inherited retinopathies.
      Title: MPP3 is recruited to the MPP5 protein scaffold at the retinal outer limiting membrane.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    MAGUK p55 subfamily member 3
    Names
    discs, large homolog 3
    membrane palmitoylated protein 3
    membrane protein palmitoylated 3
    membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330233.2 → NP_001317162.1  MAGUK p55 subfamily member 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC003098, U37707
      Consensus CDS
      CCDS82135.1
      UniProtKB/TrEMBL
      D3DX46
      Related
      ENSP00000381430.1, ENST00000398393.5

    2. NM_001353080.2 → NP_001340009.1  MAGUK p55 subfamily member 3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC003098
      Conserved Domains (4) summary
      smart00569
      Location:81 → 129
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12039
      Location:238 → 299
      SH3_MPP3; Src Homology 3 domain of Membrane Protein, Palmitoylated 3 (or MAGUK p55 subfamily member 3)
      smart00072
      Location:403 → 579
      GuKc; Guanylate kinase homologues
      cd00992
      Location:143 → 223
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    3. NM_001932.6 → NP_001923.2  MAGUK p55 subfamily member 3 isoform 1

      See identical proteins and their annotated locations for NP_001923.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shortest isoform (1).
      Source sequence(s)
      BC056865, DA585178, DB357996, U37707
      Consensus CDS
      CCDS42344.1
      UniProtKB/Swiss-Prot
      A0A0C4DGP3, B2R7N0, D3DX47, Q13368, Q4GX05, Q6PGR3, Q86SV1
      Related
      ENSP00000381425.4, ENST00000398389.9
      Conserved Domains (4) summary
      smart00569
      Location:71 → 121
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12039
      Location:230 → 291
      SH3_MPP3; Src Homology 3 domain of Membrane Protein, Palmitoylated 3 (or MAGUK p55 subfamily member 3)
      smart00072
      Location:395 → 571
      GuKc; Guanylate kinase homologues
      cd00992
      Location:135 → 215
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    RNA

    1. NR_003562.4 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      BC047017, DB357996, U37707

    2. NR_148342.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC003098

    3. NR_148343.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC003098

    4. NR_148344.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC003098

    5. NR_148345.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC003098

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      43800811..43833146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721915.3 → XP_006721978.1  MAGUK p55 subfamily member 3 isoform X1

      See identical proteins and their annotated locations for XP_006721978.1

      UniProtKB/Swiss-Prot
      A0A0C4DGP3, B2R7N0, D3DX47, Q13368, Q4GX05, Q6PGR3, Q86SV1
      Conserved Domains (4) summary
      smart00569
      Location:71 → 121
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12039
      Location:230 → 291
      SH3_MPP3; Src Homology 3 domain of Membrane Protein, Palmitoylated 3 (or MAGUK p55 subfamily member 3)
      smart00072
      Location:395 → 571
      GuKc; Guanylate kinase homologues
      cd00992
      Location:135 → 215
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    2. XM_017024656.2 → XP_016880145.1  MAGUK p55 subfamily member 3 isoform X2

      Conserved Domains (3) summary
      cd12039
      Location:28 → 89
      SH3_MPP3; Src Homology 3 domain of Membrane Protein, Palmitoylated 3 (or MAGUK p55 subfamily member 3)
      smart00072
      Location:193 → 369
      GuKc; Guanylate kinase homologues
      pfam00625
      Location:182 → 370
      Guanylate_kin; Guanylate kinase

    3. XM_047436098.1 → XP_047292054.1  MAGUK p55 subfamily member 3 isoform X3

    4. XM_047436102.1 → XP_047292058.1  MAGUK p55 subfamily member 3 isoform X5

      Related
      ENSP00000465486.1, ENST00000496503.5

    5. XM_047436099.1 → XP_047292055.1  MAGUK p55 subfamily member 3 isoform X3

    6. XM_017024658.2 → XP_016880147.1  MAGUK p55 subfamily member 3 isoform X5

      UniProtKB/TrEMBL
      B4DS20

    7. XM_047436103.1 → XP_047292059.1  MAGUK p55 subfamily member 3 isoform X6

    8. XM_047436097.1 → XP_047292053.1  MAGUK p55 subfamily member 3 isoform X3

    9. XM_047436101.1 → XP_047292057.1  MAGUK p55 subfamily member 3 isoform X5

    10. XM_047436100.1 → XP_047292056.1  MAGUK p55 subfamily member 3 isoform X4

    RNA

    1. XR_007065299.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      44653356..44685702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316184.1 → XP_054172159.1  MAGUK p55 subfamily member 3 isoform X1

      UniProtKB/Swiss-Prot
      A0A0C4DGP3, B2R7N0, D3DX47, Q13368, Q4GX05, Q6PGR3, Q86SV1

    2. XM_054316186.1 → XP_054172161.1  MAGUK p55 subfamily member 3 isoform X2

    3. XM_054316195.1 → XP_054172170.1  MAGUK p55 subfamily member 3 isoform X9

    4. XM_054316185.1 → XP_054172160.1  MAGUK p55 subfamily member 3 isoform X7

    5. XM_054316188.1 → XP_054172163.1  MAGUK p55 subfamily member 3 isoform X3

    6. XM_054316192.1 → XP_054172167.1  MAGUK p55 subfamily member 3 isoform X5

    7. XM_054316189.1 → XP_054172164.1  MAGUK p55 subfamily member 3 isoform X3

    8. XM_054316194.1 → XP_054172169.1  MAGUK p55 subfamily member 3 isoform X6

    9. XM_054316191.1 → XP_054172166.1  MAGUK p55 subfamily member 3 isoform X5

    10. XM_054316187.1 → XP_054172162.1  MAGUK p55 subfamily member 3 isoform X3

    11. XM_054316190.1 → XP_054172165.1  MAGUK p55 subfamily member 3 isoform X4

    12. XM_054316193.1 → XP_054172168.1  MAGUK p55 subfamily member 3 isoform X8

    RNA

    1. XR_008484821.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13368.2 GenPept UniProtKB/Swiss-Prot:Q13368

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