LLGL1

Lethal giant larvae homolog 1 (Drosophila)
Identifiers
Symbols	LLGL1 ; DLG4; HUGL; HUGL-1; HUGL1; LLGL
External IDs	OMIM: 600966 MGI: 102682 HomoloGene: 31220 GeneCards: LLGL1 Gene
Gene ontology Molecular function • GTPase activator activity • structural molecule activity • protein binding • protein kinase binding Cellular component • Golgi cis cisterna • cytoplasm • cytoskeleton • axon • cortical actin cytoskeleton • early endosome membrane • trans-Golgi network membrane Biological process • protein complex assembly • exocytosis • Golgi to plasma membrane transport • axonogenesis • cortical actin cytoskeleton organization • positive regulation of GTPase activity Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3996	16897
Ensembl	ENSG00000131899	ENSMUSG00000020536
UniProt	Q15334	Q80Y17
RefSeq (mRNA)	NM_004140	NM_001159404
RefSeq (protein)	NP_004131	NP_001152876
Location (UCSC)	Chr 17: 18.23 – 18.24 Mb	Chr 11: 60.7 – 60.71 Mb
PubMed search

Lethal(2) giant larvae protein homolog 1 is a protein that in humans is encoded by the LLGL1 gene.^[1][2][3]

This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17.^[3]

References

1. Strand D, Unger S, Corvi R, Hartenstein K, Schenkel H, Kalmes A, Merdes G, Neumann B, Krieg-Schneider F, Coy JF; et al. (Aug 1995). "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". Oncogene 11 (2): 291–301. PMID 7542763.
2. Koyama K, Fukushima Y, Inazawa J, Tomotsune D, Takahashi N, Nakamura Y (Mar 1996). "The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2". Cytogenet Cell Genet 72 (1): 78–82. doi:10.1159/000134167. PMID 8565641.
3. "Entrez Gene: LLGL1 lethal giant larvae homolog 1 (Drosophila)".

Further reading

• Campbell HD, Fountain S, Young IG, et al. (1997). "Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.". Genomics 42 (1): 46–54. doi:10.1006/geno.1997.4709. PMID 9177775.
• Ludford-Menting MJ, Thomas SJ, Crimeen B, et al. (2002). "A functional interaction between CD46 and DLG4: a role for DLG4 in epithelial polarization.". J. Biol. Chem. 277 (6): 4477–84. doi:10.1074/jbc.M108479200. PMID 11714708.
• Bi W, Yan J, Stankiewicz P, et al. (2002). "Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse". Genome Res. 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186594. PMID 11997338.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Yamanaka T, Horikoshi Y, Sugiyama Y, et al. (2004). "Mammalian Lgl forms a protein complex with PAR-6 and aPKC independently of PAR-3 to regulate epithelial cell polarity". Curr. Biol. 13 (9): 734–43. doi:10.1016/S0960-9822(03)00244-6. PMID 12725730.
• Grifoni D, Garoia F, Schimanski CC, et al. (2004). "The human protein Hugl-1 substitutes for Drosophila lethal giant larvae tumour suppressor function in vivo". Oncogene 23 (53): 8688–94. doi:10.1038/sj.onc.1208023. PMID 15467749.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Schimanski CC, Schmitz G, Kashyap A, et al. (2005). "Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer". Oncogene 24 (19): 3100–9. doi:10.1038/sj.onc.1208520. PMID 15735678.
• Kuphal S, Wallner S, Schimanski CC, et al. (2006). "Expression of Hugl-1 is strongly reduced in malignant melanoma". Oncogene 25 (1): 103–10. doi:10.1038/sj.onc.1209008. PMID 16170365.
• Grifoni D, Garoia F, Bellosta P, et al. (2007). "aPKCzeta cortical loading is associated with Lgl cytoplasmic release and tumor growth in Drosophila and human epithelia". Oncogene 26 (40): 5960–5. doi:10.1038/sj.onc.1210389. PMID 17369850.