LLGL1 (LLGL scribble cell polarity complex component 1)

2003-02-01  

Identity

HGNC
LLGL1
LOCATION
17p11.2
LOCUSID
3996
ALIAS
DLG4,HUGL,HUGL-1,HUGL1,LLGL,Lgl1,Mgl1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3996
MIM: 600966
HGNC: 6628
Ensembl: ENSG00000131899

Variants:

dbSNP: 3996
ClinVar: 3996
TCGA: ENSG00000131899
COSMIC: LLGL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131899ENST00000316843Q15334
ENSG00000131899ENST00000621229A0A087WW77

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
157356782005Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer.45
154677492004The human protein Hugl-1 substitutes for Drosophila lethal giant larvae tumour suppressor function in vivo.41
161703652006Expression of Hugl-1 is strongly reduced in malignant melanoma.38
173698502007aPKCzeta cortical loading is associated with Lgl cytoplasmic release and tumor growth in Drosophila and human epithelia.33
194478732009Aberrant splicing of Hugl-1 is associated with hepatocellular carcinoma progression.24
286282352017Expanded phenotypes and outcomes among 256 LGI1/CASPR2-IgG-positive patients.19
239075402013PTEN loss represses glioblastoma tumor initiating cell differentiation via inactivation of Lgl1.16
180746782007Loss of Hugl-1 expression associates with lymph node metastasis in endometrial cancer.14
231100972012Hugl1 and Hugl2 in mammary epithelial cells: polarity, proliferation, and differentiation.13

Citation

Dessen P

LLGL1 (LLGL scribble cell polarity complex component 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41162/llgl1