Homo sapiens Gene: LLGL1
Summary
InnateDB Gene IDBG-33645.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LLGL1
Gene Name lethal giant larvae homolog 1 (Drosophila)
Synonyms DLG4; HUGL; HUGL-1; HUGL1; LLGL
Species Homo sapiens
Ensembl Gene ENSG00000131899
Encoded Proteins
lethal giant larvae homolog 1 (Drosophila)
lethal giant larvae homolog 1 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:18225587-18244875
Strand Forward strand
Band p11.2
Transcripts
ENST00000316843 ENSP00000321537
ENST00000479155
ENST00000621229 ENSP00000480006
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Tight junction pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_004140 XM_005256643 XM_005256644
HUGO
OMIM
CCDS CCDS32586
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas