Lethal(2) giant larvae protein homolog 1 (LLGL, human homolog to the D-lgl gene, Hugl-1, DLG4, LLGL1, HUGL)

Function

• cortical cytoskeleton protein
• found in a complex involved in maintaining cell polarity & epithelial integrity
• role in regulation of mitotic spindle orientation, proliferation, differentiation & tissue organization of neuroepithelial cells
• associated with nonmuscle myosin II heavy chain
• interacts with PRKCI/aPKC, PARD6B/Par-6, PARD6A
• interacts with STX4A
• phosphorylated on Ser-664 by PRKCI
• 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

• down-regulation of LLGL1 is associated with progression of colorectal cancer & melanoma
• deleted in Smith-Magenis syndrome

More general terms

• cytoskeletal protein
• WD repeat protein family

Database

• OMIM: https://mirror.omim.org/entry/600966
• UniProt: http://www.uniprot.org/uniprot/Q15334.html