Protein: L2GL1_HUMAN
Lethal(2) giant larvae protein homolog 1
SUBUNIT: Associated with nonmuscle myosin II heavy chain. Interacts with PRKCI/aPKC, PARD6B/Par-6 and PARD6A. Interacts with STX4A (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Localized to the lateral membrane during the polarization and formation cell- cell contacts.
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;
GENE SYNONYMS: DLG4 HUGL HUGL1.
COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
Organism:
- Homo sapiens
Gene Symbol:
- LLGL1
Synonyms:
- Hugl-1
- DLG4
- LLGL
- Human homolog to the D-lgl gene protein
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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. more...