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

Gene ID: 260425, updated on 5-May-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, Apr 2022]
Expression
Broad expression in lung (RPKM 6.5), thyroid (RPKM 5.4) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (113390515..113685923)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (113401966..113697567)
105.20220307 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. 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
  2. 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
  3. 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
  4. Integrated analyses identify miR-34c-3p/MAGI3 axis for the Warburg metabolism in hepatocellular carcinoma. Weng Q, et al. FASEB J, 2020 Apr. PMID 32080912
  5. Premature polyadenylation of MAGI3 produces a dominantly-acting oncogene in human breast cancer. Ni TK, et al. Elife, 2016 May 20. PMID 27205883, Free PMC Article

See all (55) 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)

Genotypes

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_2023_10

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

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