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

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: mouse all
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Genomic context

Location:: 3p14.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (65353526..66038918, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (65397166..66082942, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (65339201..66024593, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MiR-205-5p-Mediated MAGI1 Inhibition Attenuates the Injury Induced by Diabetic Nephropathy.
Title: MiR-205-5p-Mediated MAGI1 Inhibition Attenuates the Injury Induced by Diabetic Nephropathy.
MAGI1 Prevents Senescence and Promotes the DNA Damage Response in ER[+] Breast Cancer.
Title: MAGI1 Prevents Senescence and Promotes the DNA Damage Response in ER(+) Breast Cancer.
Stimulated expression of ELR+ chemokines, VEGFA and TNF-AIP3 promote mycobacterial dissemination in extrapulmonary tuberculosis patients and Cavia porcellus model of tuberculosis.
Title: Stimulated expression of ELR+ chemokines, VEGFA and TNF-AIP3 promote mycobacterial dissemination in extrapulmonary tuberculosis patients and Cavia porcellus model of tuberculosis.
Molecular insights into the interaction of HPV-16 E6 variants against MAGI-1 PDZ1 domain.
Title: Molecular insights into the interaction of HPV-16 E6 variants against MAGI-1 PDZ1 domain.
MAGI1 inhibits the AMOTL2/p38 stress pathway and prevents luminal breast tumorigenesis.
Title: MAGI1 inhibits the AMOTL2/p38 stress pathway and prevents luminal breast tumorigenesis.
Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans.
Title: Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans.
MAGI1, a Scaffold Protein with Tumor Suppressive and Vascular Functions.
Title: MAGI1, a Scaffold Protein with Tumor Suppressive and Vascular Functions.
MAGI1 was markedly decreased in the Renal cell carcinoma (RCC) and indicated poor survival. Furthermore, we found that MAGI1 suppressed the invasion and migration of human RCC cells. Mechanistic investigations revealed that MAGI1 stabilized the PTEN/MAGI1/beta-catenin complex to inhibit beta-catenin signaling pathway. Moreover, MAGI1 was targeted by miR-520h which was transcriptionally activated by c-Myb.
Title: MAGI1 mediates tumor metastasis through c-Myb/miR-520h/MAGI1 signaling pathway in renal cell carcinoma.
The authors report MAGI1 as a novel fluid shear stress-induced transcript/protein in endothelial cells that regulates eNOS (endothelial nitric oxide synthase) phosphorylation and nitric oxide production through PKA/AMPK-dependent phosphorylation.
Title: MAGI1 Mediates eNOS Activation and NO Production in Endothelial Cells in Response to Fluid Shear Stress.
Decreased MAGI1 expression in the colonic mucosa might contribute to the pathogenesis of microscopic colitis.
Title: Genetic Variation and Gene Expression Levels of Tight Junction Genes Indicates Relationships Between PTEN as well as MAGI1 and Microscopic Colitis.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32932 (e-PCR)
- UniSTS:117510

SGC30284 (e-PCR)
- UniSTS:51214

SHGC-80108 (e-PCR)
- UniSTS:102162

RH17837 (e-PCR)
- UniSTS:27668

SHGC-13632 (e-PCR)
- UniSTS:28948

SHGC-149703 (e-PCR)
- UniSTS:177173

D3S2413 (e-PCR)
- UniSTS:37662

A009X02 (e-PCR)
- UniSTS:12579

RH123103 (e-PCR)
- UniSTS:135483

SHGC-106950 (e-PCR)
- UniSTS:183616

AFMA303ZF9 (e-PCR)
- UniSTS:81987

RH68778 (e-PCR)
- UniSTS:40273

RH120905 (e-PCR)
- UniSTS:133738

D3S3902 (e-PCR)
- UniSTS:77938

RH78728 (e-PCR)
- UniSTS:82549

SHGC-14443 (e-PCR)
- UniSTS:47477

SHGC-155346 (e-PCR)
- UniSTS:183414

SHGC-77041 (e-PCR)
- UniSTS:73854

RH45407 (e-PCR)
- UniSTS:2955

SHGC-58161 (e-PCR)
- UniSTS:53161

G63604 (e-PCR)
- UniSTS:140715

BAIAP1_4428 (e-PCR)
- UniSTS:462767

SHGC-141924 (e-PCR)
- UniSTS:174007

SHGC-147419 (e-PCR)
- UniSTS:175801

D3S1720 (e-PCR)
- UniSTS:154306

GDB:313465 (e-PCR)
- UniSTS:23493

SHGC-83091 (e-PCR)
- UniSTS:101318

WI-18488 (e-PCR)
- UniSTS:35528

SHGC-146194 (e-PCR)
- UniSTS:175072

WI-15222 (e-PCR)
- UniSTS:11490

SGC38291 (e-PCR)
- UniSTS:7675

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 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

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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)

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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

NG_029778.2 RefSeqGene

Range

4917..690309

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001033057.2 → NP_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:122 → 293

GuKc; Guanylate kinase homologues

smart00228
Location:1123 → 1205

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00201
Location:303 → 332

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:968 → 1062

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:361 → 390

WW; WW domain

pfam16666
Location:722 → 805

MAGI_u5; Unstructured region on MAGI
NM_001365903.2 → NP_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:362 → 393

WW; Domain with 2 conserved Trp (W) residues

smart00072
Location:122 → 294

GuKc; Guanylate kinase homologues

smart00228
Location:1153 → 1235

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00201
Location:304 → 333

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:997 → 1092

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:723 → 806

MAGI_u5; Unstructured region on MAGI
NM_001365904.2 → NP_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:362 → 393

WW; Domain with 2 conserved Trp (W) residues

smart00072
Location:122 → 294

GuKc; Guanylate kinase homologues

smart00228
Location:1152 → 1234

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00201
Location:304 → 333

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:997 → 1091

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:723 → 806

MAGI_u5; Unstructured region on MAGI
NM_001365905.1 → NP_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
NM_004742.3 → NP_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:361 → 392

WW; Domain with 2 conserved Trp (W) residues

smart00072
Location:122 → 293

GuKc; Guanylate kinase homologues

smart00228
Location:1152 → 1234

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00201
Location:303 → 332

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:996 → 1091

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:722 → 805

MAGI_u5; Unstructured region on MAGI
NM_015520.2 → NP_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:361 → 392

WW; Domain with 2 conserved Trp (W) residues

smart00072
Location:122 → 293

GuKc; Guanylate kinase homologues

smart00228
Location:1151 → 1233

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00201
Location:303 → 332

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:996 → 1090

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:722 → 805

MAGI_u5; Unstructured region on MAGI