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

Gene ID: 4356, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43800811..43833146, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44653356..44685702, complement)
105.20220307 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
  • 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. MPP3 inactivation by promoter CpG islands hypermethylation in colorectal carcinogenesis. Feng X, et al. Cancer Biomark, 2012. PMID 23011156
  2. [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
  3. 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
  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. 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

See all (28) 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_2023_10

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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