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

Gene ID: 260425, updated on 1-Jun-2020

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
109.20200522 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 Functions

What'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

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 Updated 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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