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    MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 9223, updated on 9-Dec-2024

    Summary

    Official Symbol
    MAGI1provided by HGNC
    Official Full Name
    membrane associated guanylate kinase, WW and PDZ domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:946
    See related
    Ensembl:ENSG00000151276 MIM:602625; AllianceGenome:HGNC:946
    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
    AIP3; BAP1; WWP3; AIP-3; BAP-1; BAIAP1; MAGI-1; Magi1d; TNRC19; MAGI-1b
    Summary
    The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.4), brain (RPKM 4.9) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MAGI1 in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (65353526..66038918, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (65397166..66082942, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (65339201..66024593, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377127 Neighboring gene long intergenic non-protein coding RNA 2040 Neighboring gene uncharacterized LOC107986094 Neighboring gene uncharacterized LOC124906246 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:65375242-65375742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:65375743-65376243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:65387577-65388078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:65388079-65388578 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:65393961-65394500 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:65494507-65495202 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:65495203-65495898 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:65524973-65525881 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:65583629-65584180 Neighboring gene uncharacterized LOC107986018 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:65747629-65748266 Neighboring gene interleukin enhancer binding factor 2 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:65776724-65776896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:65854323-65854824 Neighboring gene Sharpr-MPRA regulatory region 7664 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:65887567-65888467 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:65888468-65889367 Neighboring gene ribosomal protein L17 pseudogene 17 Neighboring gene Sharpr-MPRA regulatory region 14829 Neighboring gene MAGI1 intronic transcript 1 Neighboring gene MAGI1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:65949459-65950658 Neighboring gene uncharacterized LOC124900543 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:65985258-65985772 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:65985773-65986287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:65995041-65995541 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:65996456-65997048 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66021123-66021952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66021953-66022780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:66022781-66023608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14503 Neighboring gene uncharacterized LOC105377128 Neighboring gene NANOG hESC enhancer GRCh37_chr3:66041754-66042276 Neighboring gene NANOG hESC enhancer GRCh37_chr3:66050608-66051192 Neighboring gene uncharacterized LOC107986095 Neighboring gene solute carrier family 25 member 26

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
    EBI GWAS Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in endothelial cell morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein-containing complex assembly 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 adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in cell periphery IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1
    Names
    BAI1-associated protein 1
    WW domain-containing protein 3
    atrophin-1-interacting protein 3
    membrane-associated guanylate kinase inverted 1
    trinucleotide repeat-containing gene 19 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_029778.2 RefSeqGene

      Range
      4917..690309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033057.2NP_001028229.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform c

      See identical proteins and their annotated locations for NP_001028229.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two segments in the coding region, one of which leads to a frameshift, compared to variant 1. The resulting isoform (c) contains a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC121493, AC145425, AF401654, AK023358, BC062367
      Consensus CDS
      CCDS33780.1
      UniProtKB/Swiss-Prot
      A8K188, O00309, O43863, O75085, Q96QZ7, Q96QZ8, Q96QZ9
      Related
      ENSP00000385450.2, ENST00000402939.7
      Conserved Domains (6) summary
      smart00072
      Location:122293
      GuKc; Guanylate kinase homologues
      smart00228
      Location:11231205
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:303332
      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:9681062
      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) ...
      pfam00397
      Location:361390
      WW; WW domain
      pfam16666
      Location:722805
      MAGI_u5; Unstructured region on MAGI
    2. NM_001365903.2NP_001352832.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC104438, AC112516, AC121493, AC145425
      UniProtKB/TrEMBL
      A0A455I2N7
      Conserved Domains (6) summary
      smart00456
      Location:362393
      WW; Domain with 2 conserved Trp (W) residues
      smart00072
      Location:122294
      GuKc; Guanylate kinase homologues
      smart00228
      Location:11531235
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:304333
      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:9971092
      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) ...
      pfam16666
      Location:723806
      MAGI_u5; Unstructured region on MAGI
    3. NM_001365904.2NP_001352833.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC104438, AC112516, AC121493, AC145425
      UniProtKB/TrEMBL
      A0A455I2N7
      Conserved Domains (6) summary
      smart00456
      Location:362393
      WW; Domain with 2 conserved Trp (W) residues
      smart00072
      Location:122294
      GuKc; Guanylate kinase homologues
      smart00228
      Location:11521234
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:304333
      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:9971091
      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) ...
      pfam16666
      Location:723806
      MAGI_u5; Unstructured region on MAGI
    4. NM_001365905.1NP_001352834.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC104438, AC112516, AC121493, AC145425
      UniProtKB/TrEMBL
      A0A455I2N7
    5. NM_004742.3NP_004733.2  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_004733.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and the 3' coding region, compared to variant 1. The resulting isoform (b) contains a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AB010894, AC121493, AC145425, BC062367
      Consensus CDS
      CCDS2904.1
      UniProtKB/TrEMBL
      A0A455I2N7
      Related
      ENSP00000420323.1, ENST00000483466.5
      Conserved Domains (6) summary
      smart00456
      Location:361392
      WW; Domain with 2 conserved Trp (W) residues
      smart00072
      Location:122293
      GuKc; Guanylate kinase homologues
      smart00228
      Location:11521234
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:303332
      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:9961091
      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) ...
      pfam16666
      Location:722805
      MAGI_u5; Unstructured region on MAGI
    6. NM_015520.2NP_056335.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_056335.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (a).
      Source sequence(s)
      AC121493, AC145425, AF401654, AK023358, BC062367
      Consensus CDS
      CCDS33781.1
      UniProtKB/TrEMBL
      A0A455I2N7
      Related
      ENSP00000331157.7, ENST00000330909.12
      Conserved Domains (6) summary
      smart00456
      Location:361392
      WW; Domain with 2 conserved Trp (W) residues
      smart00072
      Location:122293
      GuKc; Guanylate kinase homologues
      smart00228
      Location:11511233
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00201
      Location:303332
      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:9961090
      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) ...
      pfam16666
      Location:722805
      MAGI_u5; Unstructured region on MAGI

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      65353526..66038918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_012132916.1 Reference GRCh38.p14 PATCHES

      Range
      14787..15718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      65397166..66082942 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)