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Lethal(2) giant larvae protein homolog 1 (LLGL, human homolog to the D-lgl gene, Hugl-1, DLG4, LLGL1, HUGL)
Function:
1) cortical cytoskeleton protein
2) found in a complex involved in maintaining cell polarity & epithelial integrity
3) role in regulation of mitotic spindle orientation, proliferation, differentiation & tissue organization of neuroepithelial cells
4) associated with nonmuscle myosin II heavy chain
5) interacts with PRKCI/aPKC, PARD6B/Par-6, PARD6A
6) interacts with STX4A
7) phosphorylated on Ser-664 by PRKCI
8) expression increases cell adhesion & decreases cell migration
Structure:
- contains 6 WD repeats
Compartment:
- cytoplasm
- localized to lateral membrane during cell polarization & formation of cell-cell contacts
Expression: expressed in brain, kidney, muscle >> heart, placenta
Pathology:
1) down-regulation of LLGL1 is associated with progression of colorectal cancer & melanoma
2) deleted in Smith-Magenis syndrome
General
cytoskeletal protein
WD repeat protein family
Properties
SIZE: MW = 115 kD
entity length = 1062 aa
COMPARTMENT: cytoplasm
MOTIF: WD repeat {32-71}
WD repeat {73-112}
WD repeat {194-234}
WD repeat {236-275}
WD repeat {428-471}
Ser phosphorylation site {S664}
WD repeat {718-755}
Database Correlations
OMIM 600966
UniProt Q15334
PFAM correlations
References
UniProt :accession Q15334