Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9223
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Membrane associated guanylate kinase, WW and PDZ domain containing 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
MAGI1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
AIP-3, AIP3, BAIAP1, BAP-1, BAP1, MAGI-1, MAGI-1b, Magi1d, TNRC19, WWP3 |
Chromosome
Chromosome number
|
3 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3p14.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 con |
UniProt ID |
Q96QZ7
|
Protein name |
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 (Atrophin-1-interacting protein 3) (AIP-3) (BAI1-associated protein 1) (BAP-1) (Membrane-associated guanylate kinase inverted 1) (MAGI-1) (Trinucleotide repeat-containing gene 19 |
Protein function |
Plays a role in coupling actin fibers to cell junctions in endothelial cells, via its interaction with AMOTL2 and CDH5 (By similarity). May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity). {E |
PDB |
1WBP
,
2KPK
,
2KPL
,
2Q9V
,
2R4H
,
2YSD
,
2YSE
,
2ZAJ
,
3BPU
,
5N7D
,
5N7F
,
5N7G
,
6TWU
,
6TWX
,
6TWY
,
7P71
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00625
|
Guanylate_kin |
126 → 200 |
Guanylate kinase |
Domain |
PF16663
|
MAGI_u1 |
202 → 261 |
|
Disordered |
PF00397
|
WW |
302 → 331 |
WW domain |
Domain |
PF00397
|
WW |
361 → 390 |
WW domain |
Domain |
PF00595
|
PDZ |
472 → 552 |
PDZ domain |
Domain |
PF00595
|
PDZ |
642 → 720 |
PDZ domain |
Domain |
PF16666
|
MAGI_u5 |
722 → 840 |
|
Disordered |
PF00595
|
PDZ |
841 → 922 |
PDZ domain |
Domain |
PF00595
|
PDZ |
998 → 1091 |
PDZ domain |
Domain |
PF00595
|
PDZ |
1152 → 1231 |
PDZ domain |
Domain |
|
Tissue specificity |
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 |
Sequence |
|
Sequence length |
1491 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Adenocarcinoma |
Adenoid Cystic Carcinoma |
rs121913530, rs886039394, rs121913474 |
23685749 |
Narcolepsy |
Narcolepsy |
rs104894574, rs387906655 |
19629137 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
22381734 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Crohn disease |
Crohn Disease |
|
25557950 |
ClinVar |
Major affective disorder |
MAJOR AFFECTIVE DISORDER 2 |
|
22381734 |
ClinVar |
Asthma |
Asthma |
|
|
GWAS |
Neuroticism |
Neuroticism |
|
|
GWAS |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
|
GWAS, CBGDA |
Insomnia |
Insomnia |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Aortic Aneurysm Abdominal |
Associate
|
25993293 |
Arthritis Psoriatic |
Associate
|
25990289 |
Autoimmune Diseases |
Associate
|
32141793 |
Breast Neoplasms |
Associate
|
25417742, 33707576, 37566008 |
Carcinogenesis |
Associate
|
33707576 |
Carcinoma Hepatocellular |
Associate
|
21942217 |
Carcinoma Non Small Cell Lung |
Associate
|
32016970 |
Colitis Collagenous |
Associate
|
29204743 |
Colitis Lymphocytic |
Associate
|
29204743 |
Colitis Microscopic |
Associate
|
29204743 |
Colonic Neoplasms |
Associate
|
37975370 |
Dermatitis Allergic Contact |
Inhibit
|
31783056 |
Hereditary Breast and Ovarian Cancer Syndrome |
Inhibit
|
33707576 |
Irritable Bowel Syndrome |
Associate
|
27445342 |
Malformations of Cortical Development Group I |
Stimulate
|
24696483 |
Neoplasm Invasiveness |
Inhibit
|
21942217 |
Neoplasm Metastasis |
Inhibit
|
21942217 |
Neoplasm Metastasis |
Stimulate
|
32016970 |
Neoplasms |
Associate
|
21942217, 24696483 |
Neoplasms |
Stimulate
|
32016970 |
Neoplasms |
Inhibit
|
37566008 |
Pulmonary Disease Chronic Obstructive |
Associate
|
37466093 |
Stomach Neoplasms |
Associate
|
33328548 |
Triple Negative Breast Neoplasms |
Associate
|
37566008 |
|