InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LLGL1

Summary

InnateDB Protein

IDBP-33647.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LLGL1

Protein Name

lethal giant larvae homolog 1 (Drosophila)

Synonyms

DLG4; HUGL; HUGL-1; HUGL1; LLGL;

Species

Homo sapiens

Ensembl Protein

ENSP00000321537

InnateDB Gene

IDBG-33645 (LLGL1)

Protein Structure

UniProt Annotation

Function

Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane. {ECO:0000269PubMed:15735678, ECO:0000269PubMed:16170365}.

Subcellular Localization

Early endosome membrane {ECO:0000250}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}. Cell projection, axon {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:12725730, ECO:0000269PubMed:7542763}. Note=Localized to the lateral membrane during the polarization and formation cell-cell contacts. Enriched in developping axons (By similarity). {ECO:0000250}.

Disease Associations

Tissue Specificity

Expressed in brain, kidney, and muscle but is barely seen in heart and placenta. Down-regulated or lost in all cell lines and in most of the tumor samples analyzed. Loss was associated with advanced stage of the disease. {ECO:0000269PubMed:15735678, ECO:0000269PubMed:16170365, ECO:0000269PubMed:7542763}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	19 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005097	Rab GTPase activator activity
GO:0005198	structural molecule activity
GO:0005515	protein binding
GO:0019901	protein kinase binding

Biological Process

GO:0006461	protein complex assembly
GO:0006887	exocytosis
GO:0006893	Golgi to plasma membrane transport
GO:0007409	axonogenesis
GO:0030866	cortical actin cytoskeleton organization
GO:0032851	positive regulation of Rab GTPase activity
GO:0035090	maintenance of apical/basal cell polarity

Cellular Component

GO:0000137	Golgi cis cisterna
GO:0000139	Golgi membrane
GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0030424	axon
GO:0030864	cortical actin cytoskeleton
GO:0031901	early endosome membrane
GO:0032588	trans-Golgi network membrane
GO:0035748	myelin sheath abaxonal region