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- Table of Contents
Facts about Lethal(2) giant larvae protein homolog 1.
Involved in axonogenesis via RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane. .
Human | |
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Gene Name: | LLGL1 |
Uniprot: | Q15334 |
Entrez: | 3996 |
Belongs to: |
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WD repeat L(2)GL family |
DLG4lethal giant larvae (Drosophila) homolog 1; HUGL; HUGL1; HUGL-1; Human homolog to the D-lgl gene protein; lethal giant larvae homolog 1 (Drosophila); lethal(2) giant larvae protein homolog 1; LLGL
Mass (kDA):
115.418 kDA
Human | |
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Location: | 17p11.2 |
Sequence: | 17; NC_000017.11 (18225593..18244875) |
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.
Early endosome membrane. Golgi apparatus, trans-Golgi network membrane. Golgi apparatus membrane. Cell projection, axon. Cytoplasm, cytoskeleton. Localized to the lateral membrane during the polarization and formation cell-cell contacts. Enriched in developping axons (By similarity).
PMID: 7542763 by Strand D.J., et al. A human homologue of the Drosophila tumour suppressor gene l(2)gl maps to 17p11.2-12 and codes for a cytoskeletal protein that associates with nonmuscle myosin II heavy chain.
PMID: 8565641 by Koyama K., et al. The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2.