Human Gene MAGI1 (ENST00000402939.7_8) from GENCODE V47lift37
  Description: membrane associated guanylate kinase, WW and PDZ domain containing 1, transcript variant 3 (from RefSeq NM_001033057.2)
Gencode Transcript: ENST00000402939.7_8
Gencode Gene: ENSG00000151276.24_15
Transcript (Including UTRs)
   Position: hg19 chr3:65,339,201-66,024,593 Size: 685,393 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr3:65,342,053-66,023,983 Size: 681,931 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:65,339,201-66,024,593)mRNA (may differ from genome)Protein (1462 aa)
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-  Comments and Description Text from UniProtKB
  ID: MAGI1_HUMAN
DESCRIPTION: RecName: Full=Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1; AltName: Full=Atrophin-1-interacting protein 3; Short=AIP-3; AltName: Full=BAI1-associated protein 1; Short=BAP-1; AltName: Full=Membrane-associated guanylate kinase inverted 1; Short=MAGI-1; AltName: Full=Trinucleotide repeat-containing gene 19 protein; AltName: Full=WW domain-containing protein 3; Short=WWP3;
FUNCTION: May play a role as scaffolding protein at cell-cell junctions. May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity).
SUBUNIT: Interacts through its WW 2 domain with SYNPO and through its PDZ 5 domain with ACTN4. Interacts with cytoplasmic domain of BAI1. Interacts via its WW domains with DRPLA. Interacts with ESAM, LRP2 and CXADR. May interact with CTNNB1. Interacts through its PDZ 1 domain with NET1 (By similarity). Interacts with ASIC3 and AMOT. Interacts with FCHSD2. Interacts with IGSF5/JAM4 and through its PDZ 2 and 3 domains with NPHS1 forming a tripartite complex (By similarity). Interacts with DDN.
INTERACTION: O94868:FCHSD2; NbExp=5; IntAct=EBI-924464, EBI-1215612; O60333-3:KIF1B; NbExp=3; IntAct=EBI-924464, EBI-465669;
SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Peripheral membrane protein. Note=Localizes to epithelial cells tight junctions.
TISSUE SPECIFICITY: Widely expressed with the exception of skeletal muscle. Isoform 1, isoform 2 and isoform 6 are highly expressed in colon, kidney, lung, liver, and pancreas. Isoform 5 is predominantly expressed in brain and heart. Isoform 3 and isoform 4 are highly expressed in pancreas and brain.
SIMILARITY: Contains 1 guanylate kinase-like domain.
SIMILARITY: Contains 6 PDZ (DHR) domains.
SIMILARITY: Contains 2 WW domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAGI1
Diseases sorted by gene-association score: sesame syndrome (10)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.19 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 238.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -252.70610-0.414 Picture PostScript Text
3' UTR -704.272852-0.247 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008144 - Guanylate_kin
IPR008145 - Guanylate_kin/L-typ_Ca_channel
IPR020590 - Guanylate_kinase_CS
IPR001478 - PDZ
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00397 - WW domain
PF00595 - PDZ domain
PF00625 - Guanylate kinase
PF16663 - Unstructured region on MAGI
PF16666 - Unstructured region on MAGI
PF17820 - PDZ domain

SCOP Domains:
81995 - beta-sandwich domain of Sec23/24
50156 - PDZ domain-like
50249 - Nucleic acid-binding proteins
51045 - WW domain
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KPK - NMR 2KPL - NMR 2Q9V - X-ray 2R4H - X-ray 2YSD - NMR 2YSE - NMR 2ZAJ - NMR 3BPU - X-ray


ModBase Predicted Comparative 3D Structure on Q96QZ7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0032947 protein complex scaffold
GO:0051393 alpha-actinin binding

Biological Process:
GO:0007155 cell adhesion
GO:0007166 cell surface receptor signaling pathway
GO:0065003 macromolecular complex assembly
GO:0070997 neuron death

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0030054 cell junction
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AF401654 - Homo sapiens MAGI-1B alpha beta mRNA, complete cds, alternatively spliced.
AF401655 - Homo sapiens MAGI-1A mRNA, complete cds, alternatively spliced.
AF401656 - Homo sapiens MAGI-1C beta mRNA, complete cds, alternatively spliced.
KC170987 - Homo sapiens Magi1d mRNA, complete cds.
AB010894 - Homo sapiens mRNA for BAI1-associated protein 1, complete cds.
AK289803 - Homo sapiens cDNA FLJ77527 complete cds, highly similar to Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 2, mRNA.
BC167863 - Synthetic construct Homo sapiens clone IMAGE:100068253, MGC:195870 membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1) mRNA, encodes complete protein.
AB528589 - Synthetic construct DNA, clone: pF1KB9407, Homo sapiens MAGI1 gene for membrane associated guanylate kinase, WW and PDZ domain containing 1, without stop codon, in Flexi system.
U80754 - Homo sapiens membrane associated guanylate kinase 1 (MAGI-1) mRNA, partial cds.
AK310365 - Homo sapiens cDNA, FLJ17407.
BC062367 - Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1, mRNA (cDNA clone IMAGE:6279373).
KY651084 - Homo sapiens MAGI-1b mRNA, complete cds.
AL050184 - Homo sapiens mRNA; cDNA DKFZp586A2423 (from clone DKFZp586A2423).
AK023358 - Homo sapiens cDNA FLJ13296 fis, clone OVARC1001261.
AK127518 - Homo sapiens cDNA FLJ45611 fis, clone BRTHA3024600.
AK130632 - Homo sapiens cDNA FLJ27122 fis, clone SPL06850.
AK124433 - Homo sapiens cDNA FLJ42442 fis, clone BLADE2008454.
AK307794 - Homo sapiens cDNA, FLJ97742.
U96115 - Homo sapiens WW domain-containing protein WWP3 mRNA, partial cds.
JD312898 - Sequence 293922 from Patent EP1572962.
JD389861 - Sequence 370885 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K188, AIP3, BAIAP1, BAP1, ENST00000402939.1, ENST00000402939.2, ENST00000402939.3, ENST00000402939.4, ENST00000402939.5, ENST00000402939.6, MAGI1_HUMAN, NM_001033057, O00309, O43863, O75085, Q96QZ7, Q96QZ8, Q96QZ9, TNRC19, uc319cau.1, uc319cau.2
UCSC ID: ENST00000402939.7_8
RefSeq Accession: NM_001033057.2
Protein: Q96QZ7 (aka MAGI1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.