Gene Report
Basic Info
Approved Symbol |
LLGL1
|
Previous Symbol |
DLG4, LLGL, HUGL, HUGL-1 |
Approved Name |
lethal giant larvae homolog 1 (Drosophila) |
Previous Name |
lethal giant larvae (Drosophila) homolog 1 |
Location |
17p11.2 |
Position |
chr17:18128901-18148189, + |
External Links |
HGNC: 6628
Entrez Gene: 3996
Ensembl: ENSG00000131899
UCSC: uc002gsp.2
|
No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
Source |
Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 1)
Gene related GO terms (count: 20)
Gene related KEGG pathways (count: 1)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
hsa04530 |
Tight junction |
18 |
Epithelial tight junctions (TJs) are composed of at least th......
Epithelial 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 many different proteins that form large complexes. The transmembrane proteins mediate cell adhesion and are thought to constitute the intramembrane and paracellular diffusion barriers. The cytoplasmic 'plaque' contains three major multi-protein complexes consisting largely of scaffolding proteins, the ZO protein complex, the CRB3-Pals1-PATJ complex and the PAR-3-aPKC-PAR-6 complex. The ZO protein complex appears to organize the transmembrane proteins and couple them to other cytoplasmic proteins and to actin microfilaments. Two evolutionarily conserved protein complexes, the CRB3 and PAR complexes are involved in the establishment and maintenance of epithelial cell polarity. Besides these three protein complexes which seem to be constitutively associated at TJs, a number of proteins with different functions has been identified at TJs. These include additional scaffolding proteins like MUPP1 and MAGI-1, adaptor proteins, transcription regulators and RNA processing factors, regulatory proteins like small GTPases and G-proteins, kinases and phosphatases, and heat shock proteins. These are proposed to be involved in junction assembly, barrier regulation, gene transcription, and perhaps other, presently undefined pathways.
More...
|
Genes shared at least 5 GO terms with LLGL1 (count: 2)
Genes shared at least 2 KEGG pathways with LLGL1 (count: 0)
View in gBrowse