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FLASH GENE

Symbol

LLGL1

contributors: mct/npt - updated : 10-03-2010

HGNC name	lethal giant larvae homolog 1 (Drosophila)
HGNC id	6628

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	17p11.2      Physical location : 18.128.935 - 18.148.186
Synonym name	human homolog to the D-lgl gene protein
Synonym symbol(s)	DLG4, LLGL, HUGL, HUGL1, HUGL-1

DNA

TYPE	functioning gene
SPECIAL FEATURE	overlapping, gene in gene, opposite orientation, tail to tail
text	overlapping ELI1
STRUCTURE	19.25 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

in the Smith-Magenis critical region

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004140 23 - 4225 NP_004131 - 1064 - Koyama (1996)

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

several conserved functional domains found in Lgl, suggesting that these proteins may have closely related functions (Shimanski 2005)

HOMOLOGY

interspecies

homolog to drosophila Lgl

Homologene

FAMILY

WD repeat L(2)GL family

CATEGORY

structural protein , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	control of cell proliferation
	its expression increased cell adhesion and decreased cell migration (Shimanski 2005)
	binds Myosin II and is involved in maintaining cell polarity and epithelial integrity (Shimanski 2005)

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

part of DLG1/SCRIB/LLGL1 tumour suppressor complex, interacting with tSNARE syntaxin 4 (Massimi 2008)

INTERACTION

DNA

RNA

small molecule

protein

non muscle myosin II heavy chain binding

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in Smith-Magenis syndrome constitutional somatic mutation       mutated by aberrant splicing exclusively in hepatocellular carcinoma (HCC), and involved in HCC progression (Lu 2009) tumoral     --low   involved in development and progression of colon cancer and malignant melanoma (Tsuruga 2007) tumoral     --low   loss of expression in endometrial cancer may contribute to lymph node metastasis and it can be a factor of poor prognosis (Tsuruga 2007)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS