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

    Gene ID: 260425, updated on 17-Jun-2019

    Summary

    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
    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
    Expression
    Broad expression in lung (RPKM 6.5), thyroid (RPKM 5.4) and 24 other tissues See more
    Orthologs

    Genomic context

    See MAGI3 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (113390474..113685923)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (113933087..114228545)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S19 pseudogene 2 Neighboring gene uncharacterized LOC643441 Neighboring gene ribosomal protein S15 pseudogene 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene Neighboring gene MT-ND5 pseudogene 20 Neighboring gene ribosomal protein S2 pseudogene 14 Neighboring gene putative homeodomain transcription factor 1 Neighboring gene round spermatid basic protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
      Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Rap1 signaling pathway, conserved biosystem (from KEGG)
      Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC163281

    Gene Ontology Provided by GOA

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

    General protein information

    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)

    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_001142782.2NP_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
      Q5TCQ9
      Related
      ENSP00000304604.9, ENST00000307546.14
      Conserved Domains (6) summary
      smart00456
      Location:294326
      WW; Domain with 2 conserved Trp (W) residues
      smart00228
      Location:413493
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:342372
      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:10221100
      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:11321461
      Red1; Rec10 / Red1
      cl17190
      Location:123197
      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_152900.3NP_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:294326
      WW; Domain with 2 conserved Trp (W) residues
      smart00228
      Location:413493
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:342372
      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:10221100
      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:123197
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      113390474..113685923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541208.2XP_011539510.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011539510.1

      Conserved Domains (4) summary
      smart00456
      Location:6698
      WW; Domain with 2 conserved Trp (W) residues
      smart00228
      Location:185265
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:114144
      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:794872
      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_017000974.1XP_016856463.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X2

    3. XM_005270737.3XP_005270794.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X3

      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:294326
      WW; Domain with 2 conserved Trp (W) residues
      smart00228
      Location:413493
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:342372
      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:10221100
      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:123197
      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 ...
    4. XM_017000975.1XP_016856464.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 isoform X4

    RNA

    1. XR_001737106.1 RNA Sequence

    2. XR_946601.2 RNA Sequence

    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.
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