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    MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 260425, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MAGI3provided by HGNC
    Official Full Name
    membrane associated guanylate kinase, WW and PDZ domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:29647
    See related
    Ensembl:ENSG00000081026 MIM:615943; AllianceGenome:HGNC:29647
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAGI-3; dJ730K3.2
    Summary
    Predicted to enable frizzled binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within positive regulation of JUN kinase activity. Located in cell junction. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung (RPKM 6.5), thyroid (RPKM 5.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAGI3 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (113390515..113685923)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (113401966..113697567)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (113933137..114228545)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:113741139-113741644 Neighboring gene ribosomal protein S19 pseudogene 2 Neighboring gene uncharacterized LOC643441 Neighboring gene ribosomal protein S15 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:113931469-113931713 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:113933583-113934082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1532 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 10793 Neighboring gene MT-ND5 pseudogene 20 Neighboring gene NANOG hESC enhancer GRCh37_chr1:114181286-114181787 Neighboring gene Sharpr-MPRA regulatory region 12988 Neighboring gene NANOG hESC enhancer GRCh37_chr1:114223507-114224045 Neighboring gene ribosomal protein S2 pseudogene 14 Neighboring gene Sharpr-MPRA regulatory region 5734 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:114295082-114295283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:114299147-114299702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1214 Neighboring gene putative homeodomain transcription factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1215 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:114301981-114302560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1216 Neighboring gene Sharpr-MPRA regulatory region 4295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:114353909-114354438 Neighboring gene NANOG-H3K27ac hESC enhancers GRCh37_chr1:114354439-114354968 and GRCh37_chr1:114354969-114355498 Neighboring gene round spermatid basic protein 1

    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. Oncogenic human papillomavirus E6 proteins target the MAGI-2 and MAGI-3 proteins for degradation. Thomas M, et al. Oncogene, 2002 Aug 1. PMID 12140759
    2. Reduced MAGI3 level by HPV18E6 contributes to Wnt/β-catenin signaling activation and cervical cancer progression. Yang Z, et al. FEBS Open Bio, 2021 Nov. PMID 34510826, Free PMC Article
    3. Genetic variation and expression levels of tight junction genes identifies association between MAGI3 and inflammatory bowel disease. Norén E, et al. BMC Gastroenterol, 2017 May 25. PMID 28545409, Free PMC Article
    4. MAGI3 Suppresses Glioma Cell Proliferation via Upregulation of PTEN Expression. Ma Q, et al. Biomed Environ Sci, 2015 Jul. PMID 26248734
    5. MAGI-1: a widely expressed, alternatively spliced tight junction protein. Laura RP, et al. Exp Cell Res, 2002 May 1. PMID 11969287

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reduced MAGI3 level by HPV18E6 contributes to Wnt/beta-catenin signaling activation and cervical cancer progression.
      Title: Reduced MAGI3 level by HPV18E6 contributes to Wnt/β-catenin signaling activation and cervical cancer progression.
    2. Integrated analyses identify miR-34c-3p/MAGI3 axis for the Warburg metabolism in hepatocellular carcinoma.
      Title: Integrated analyses identify miR-34c-3p/MAGI3 axis for the Warburg metabolism in hepatocellular carcinoma.
    3. Study shows that MAGI3 undergoes premature polyadenylation (pPA) at the intron immediately downstream of its large internal exon, which is normally highly modified by N(6)-methyladenosine (m(6)A). In breast cancer cells that upregulate MAGI3 (pPA) , m(6)A levels in the large internal exon of MAGI3 are significantly reduced compared to cells that do not express MAGI3 (pPA). MAGI3 (pPA) transcripts are depleted of m(6)A.
      Title: Premature polyadenylation of MAGI3 is associated with diminished N(6)-methyladenosine in its large internal exon.
    4. Our findings lend support to a genetic basis for modulation of intestinal epithelial barrier in IBD, and we have identified MAGI3 as a new candidate gene for IBD.
      Title: Genetic variation and expression levels of tight junction genes identifies association between MAGI3 and inflammatory bowel disease.
    5. The altered mRNA isoform, called MAGI3(pPA), produces a truncated protein that acts in a dominant-negative manner to prevent full-length MAGI3 from interacting with the YAP oncoprotein, thereby relieving YAP inhibition and promoting malignant transformation of human mammary epithelial cells.
      Title: Premature polyadenylation of MAGI3 produces a dominantly-acting oncogene in human breast cancer.
    6. Results identify MAGI3 as a novel tumor suppressor and provide insight into the pathogenesis of glioma.
      Title: MAGI3 negatively regulates Wnt/β-catenin signaling and suppresses malignant phenotypes of glioma cells.
    7. Expression levels of MAGI3 and PTEN were significantly downregulated in gliomas.
      Title: MAGI3 Suppresses Glioma Cell Proliferation via Upregulation of PTEN Expression.
    8. MAGI-3 competes with NHERF-2 to negatively regulate LPA2 receptor signaling in colon cancer cells.
      Title: MAGI-3 competes with NHERF-2 to negatively regulate LPA2 receptor signaling in colon cancer cells.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. All of the E6 genes from different HPV types displayed similar abilities to mediate the degradation of both p53 and MAGI-3
      Title: Comparison of p53 and the PDZ domain containing protein MAGI-3 regulation by the E6 protein from high-risk human papillomaviruses.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC163281

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanylate kinase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GDP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in GMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3
    Names
    membrane-associated guanylate kinase inverted 3
    membrane-associated guanylate kinase-related 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_001142782.2 → NP_001136254.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001136254.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
      Source sequence(s)
      AA992863, AB046854, AK311589, AL365225, BC130409
      Consensus CDS
      CCDS44196.1
      UniProtKB/Swiss-Prot
      A0A024R0E9, A0A024R0H3, Q5TCQ8, Q5TCQ9, Q5TCR0, Q9H2V6, Q9H5Y8, Q9HBC4, Q9HCD8
      Related
      ENSP00000304604.9, ENST00000307546.14
      Conserved Domains (6) summary
      smart00456
      Location:294 → 326
      WW; Domain with 2 conserved Trp (W) residues
      smart00228
      Location:413 → 493
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:342 → 372
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:1022 → 1100
      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) ...
      pfam07964
      Location:1132 → 1461
      Red1; Rec10 / Red1
      cl17190
      Location:123 → 197
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    2. NM_152900.3 → NP_690864.2  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform 2

      See identical proteins and their annotated locations for NP_690864.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at the 5' end of the last coding exon, compared to variant 1, that results in a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL133517, AL365225, BC130409
      Consensus CDS
      CCDS860.1
      UniProtKB/Swiss-Prot
      Q5TCQ9
      UniProtKB/TrEMBL
      A0A024R0E9
      Related
      ENSP00000358624.4, ENST00000369611.4
      Conserved Domains (5) summary
      smart00456
      Location:294 → 326
      WW; Domain with 2 conserved Trp (W) residues
      smart00228
      Location:413 → 493
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:342 → 372
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:1022 → 1100
      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) ...
      cl17190
      Location:123 → 197
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      113390515..113685923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000974.2 → XP_016856463.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X1

    2. XM_005270737.4 → XP_005270794.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X2

      See identical proteins and their annotated locations for XP_005270794.1

      UniProtKB/Swiss-Prot
      Q5TCQ9
      UniProtKB/TrEMBL
      A0A024R0E9
      Related
      ENSP00000358628.1, ENST00000369615.5
      Conserved Domains (5) summary
      smart00456
      Location:294 → 326
      WW; Domain with 2 conserved Trp (W) residues
      smart00228
      Location:413 → 493
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:342 → 372
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd00992
      Location:1022 → 1100
      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) ...
      cl17190
      Location:123 → 197
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    3. XM_047417371.1 → XP_047273327.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      113401966..113697567
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335877.1 → XP_054191852.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X1

    2. XM_054335878.1 → XP_054191853.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X2

    3. XM_054335879.1 → XP_054191854.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020965.2: Suppressed sequence

      Description
      NM_020965.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TCQ9.3 GenPept UniProtKB/Swiss-Prot:Q5TCQ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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