ID:L2GL1_HUMAN DESCRIPTION: RecName: Full=Lethal(2) giant larvae protein homolog 1; Short=LLGL; AltName: Full=DLG4; AltName: Full=Hugl-1; AltName: Full=Human homolog to the D-lgl gene protein; 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. SUBUNIT: Associated with nonmuscle myosin II heavy chain. Interacts with PRKCI/aPKC, PARD6B/Par-6 and PARD6A. Interacts with STX4A (By similarity). Interacts with RAB10 (GDP-bound form); the interaction is direct and promotes RAB10 association with membranes and activation through competition with the Rab inhibitor GDI1 (By similarity). SUBCELLULAR LOCATION: Early endosome membrane (By similarity). Golgi apparatus, trans-Golgi network membrane (By similarity). Golgi apparatus membrane (By similarity). Cell projection, axon (By similarity). Cytoplasm, cytoskeleton. Note=Localized to the lateral membrane during the polarization and formation cell-cell contacts. Enriched in developping axons (By similarity). 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. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Phosphorylated at least at Ser-663 by PRKCI. MISCELLANEOUS: Down-regulation of LLGL1 is associated with the progression of colorectal cancer and melanoma. Located within the Smith-Magenis syndrome region on chromosome 17; deleted in patients with this syndrome. MISCELLANEOUS: Expression increases cell adhesion and decreases cell migration. Substitutes for Drosophila l(2)gl tumor suppressor function in vivo. SIMILARITY: Belongs to the WD repeat L(2)GL family. SIMILARITY: Contains 14 WD repeats. SEQUENCE CAUTION: Sequence=BAA19516.1; Type=Frameshift; Positions=205, 216, 737, 740, 794, 799, 866, 872, 881, 945, 968, 1024;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15334
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
