ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

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)

Region Name	Position	No. of Studies (significant/non-significant/trend)
17p11	chr17:16000000-24000000	3 (2/0/1)

Gene related GO terms (count: 20)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000139	Golgi membrane	Cellular Component		95
GO:0035748	myelin sheath abaxonal region	Cellular Component		1
GO:0005097	Rab GTPase activator activity	Molecular Function		14
GO:0000137	Golgi cis cisterna	Cellular Component		1
GO:0007409	axonogenesis	Biological Process		14
GO:0006893	Golgi to plasma membrane transport	Biological Process		3
GO:0006887	exocytosis	Biological Process		14
GO:0006461	protein complex assembly	Biological Process	IDA[7542763]	28
GO:0005856	cytoskeleton	Cellular Component	TAS[7542763]	54
GO:0005737	cytoplasm	Cellular Component	IDA[7542763]	690
GO:0005515	protein binding	Molecular Function	IPI[7542763]	910
GO:0005198	structural molecule activity	Molecular Function	TAS[7542763]	29
GO:0035090	maintenance of apical/basal cell polarity	Biological Process		1
GO:0032851	positive regulation of Rab GTPase activity	Biological Process		4
GO:0032588	trans-Golgi network membrane	Cellular Component		5
GO:0031901	early endosome membrane	Cellular Component		9
GO:0030866	cortical actin cytoskeleton organization	Biological Process	IDA[7542763]	3
GO:0030864	cortical actin cytoskeleton	Cellular Component	IDA[7542763]	5
GO:0030424	axon	Cellular Component		35
GO:0019901	protein kinase binding	Molecular Function	IDA[7542763]	51

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)

Gene Symbol	Pathway Count	Pathway List
APC	5	axonogenesis; protein complex assembly; cytoplasm; protein binding; protein kinase binding;
PAK1	5	exocytosis; cytoplasm; protein binding; axon; protein kinase binding;

Genes shared at least 2 KEGG pathways with LLGL1 (count: 0)

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Region: chr17:18128901..18148189 View in gBrowse