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

Gene ID: 9223, updated on 4-Nov-2018

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; Vega:OTTHUMG00000157554
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
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

Genomic context

See MAGI1 in Genome Data Viewer
Location:
3p14.1
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (65354231..66038834, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (65339200..66024511, 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 LOC107986018 Neighboring gene interleukin enhancer binding factor 2 pseudogene 1 Neighboring gene ribosomal protein L17 pseudogene 17 Neighboring gene MAGI1 intronic transcript 1 Neighboring gene MAGI1 antisense RNA 1 Neighboring gene uncharacterized LOC105377128 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
    Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
  • 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...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
alpha-actinin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex scaffold activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex assembly NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
cell junction IDA
Inferred from Direct Assay
more info
 
cell projection IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
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 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)

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_029778.1 RefSeqGene

    Range
    5001..689604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033057.1NP_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, AF401654, AK023358, BC062367
    Consensus CDS
    CCDS33780.1
    UniProtKB/Swiss-Prot
    Q96QZ7
    Related
    ENSP00000385450.2, OTTHUMP00000212270, ENST00000402939.6, OTTHUMT00000349126
    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_001365903.1NP_001352832.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC104438, AC112516, AC121493, AC145425
    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_001365904.1NP_001352833.1  membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC104438, AC112516, AC121493, AC145425
    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
  5. NM_004742.2NP_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, BC062367
    Consensus CDS
    CCDS2904.1
    UniProtKB/Swiss-Prot
    Q96QZ7
    Related
    ENSP00000420323.1, OTTHUMP00000212272, ENST00000483466.5, OTTHUMT00000349128
    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_015520.1NP_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, AF401654, AK023358, BC062367
    Consensus CDS
    CCDS33781.1
    UniProtKB/Swiss-Prot
    Q96QZ7
    Related
    ENSP00000331157.7, OTTHUMP00000212271, ENST00000330909.12, OTTHUMT00000349127
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    65354231..66038834 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_012132916.1 Reference GRCh38.p12 PATCHES

    Range
    14787..15634 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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