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

Gene ID: 260425, updated on 26-May-2016
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 HPRD:11290; MIM:615943; Vega:OTTHUMG00000011737
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
Orthologs
Location:
1p13.2
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 20 Neighboring gene ribosomal protein S2 pseudogene 14 Neighboring gene putative homeodomain transcription factor 1 Neighboring gene round spermatid basic protein 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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 biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...
Products Interactant Other Gene Complex Source Pubs Description

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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex scaffold IEA
Inferred from Electronic Annotation
more info
 
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
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
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
 
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

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_001142782.1NP_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, BC130409
    Consensus CDS
    CCDS44196.1
    UniProtKB/Swiss-Prot
    Q5TCQ9
    Related
    ENSP00000304604, OTTHUMP00000013457, ENST00000307546, OTTHUMT00000032429
    Conserved Domains (3) summary
    cd00201
    Location:296326
    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 ...
  2. NM_152900.2NP_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, BC130409
    Consensus CDS
    CCDS860.1
    UniProtKB/Swiss-Prot
    Q5TCQ9
    UniProtKB/TrEMBL
    A0A024R0E9
    Related
    ENSP00000358624, OTTHUMP00000013454, ENST00000369611, OTTHUMT00000032426
    Conserved Domains (3) summary
    cd00201
    Location:296326
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005270737.2XP_005270794.1  

    See identical proteins and their annotated locations for XP_005270794.1

    UniProtKB/Swiss-Prot
    Q5TCQ9
    UniProtKB/TrEMBL
    A0A024R0E9
    Related
    ENSP00000358628, OTTHUMP00000013456, ENST00000369615, OTTHUMT00000032428
    Conserved Domains (3) summary
    cd00201
    Location:296326
    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 ...
  2. XM_011541208.1XP_011539510.1  

    See identical proteins and their annotated locations for XP_011539510.1

    Conserved Domains (2) summary
    cd00201
    Location:6898
    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) ...

RNA

  1. XR_946601.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    114048332..114343392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.