| Gene Symbol |
LLGL1
|
| Entrez Gene |
3996
|
| Alt Symbol |
DLG4, HUGL, HUGL-1, HUGL1, LLGL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
lethal giant larvae homolog 1 (Drosophila)
|
| Other Description |
human homolog to the D-lgl gene protein|lethal(2) giant larvae protein homolog 1
|
| Swissprots |
Q58F11 O00188 A7MBM7 Q15334 Q86UK6
|
| Accessions |
EAW55657 EAW55658 EAW55659 EAW55660 Q15334 BC028037 AAH28037 BC028214 AAH28214 BC051466 BC151838 AAI51839 BC167831 AAI67831 BQ923585 BQ937224 D50550 BAA19516 X86371 CAA60130 XM_011523849 XP_011522151 XM_011523850 XP_011522152 XM_011523851 XP_011522153 XM_011523852 XP_011522154 XM_011523853 XP_011522155 XM_011523854 XP_011522156 XM_011523855 XP_011522157 XM_011523856 XP_011522158 NM_004140 NP_004131
|
| 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:0000269|PubMed:15735678, ECO:0000269|PubMed:16170365}.
|
| Subcellular Location |
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:0000269|PubMed:12725730, ECO:0000269|PubMed:7542763}. Note=Localized to the lateral membrane during the polarization and formation cell-cell contacts. Enriched in developping axons (By similarity). {ECO:0000250}.
|
| 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:0000269|PubMed:15735678, ECO:0000269|PubMed:16170365, ECO:0000269|PubMed:7542763}.
|
| Top Pathways |
Tight junction, Hippo signaling pathway
|