LLGL1

LLGL1
Identifiers
Aliases	LLGL1, DLG4, HUGL, HUGL-1, HUGL1, LLGL, Lgl1, Mgl1, scribble cell polarity complex component, LLGL scribble cell polarity complex component 1
External IDs	OMIM: 600966 MGI: 102682 HomoloGene: 31220 GeneCards: LLGL1
Gene location (Human) Chr. Chromosome 17 (human) Band 17p11.2 Start 18,225,635 bp End 18,244,875 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 B2|11 37.81 cM Start 60,590,549 bp End 60,605,012 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence substantia nigra hippocampus proper temporal lobe amygdala putamen stromal cell of endometrium caudate nucleus hypothalamus nucleus accumbens Top expressed in medial ganglionic eminence primitive streak entorhinal cortex somite abdominal wall hair follicle maxillary prominence vas deferens optic nerve endocardial cushion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GTPase activator activity structural molecule activity protein binding syntaxin binding protein kinase binding myosin II binding Cellular component cytoplasm endosome Golgi apparatus cell projection trans-Golgi network membrane early endosome membrane membrane Golgi membrane plasma membrane Golgi cis cisterna axon cortical actin cytoskeleton cytoskeleton Biological process axonogenesis regulation of exocytosis Golgi to plasma membrane transport cortical actin cytoskeleton organization exocytosis regulation of protein secretion positive regulation of GTPase activity protein-containing complex assembly regulation of establishment or maintenance of cell polarity establishment of spindle orientation regulation of Notch signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3996 16897 Ensembl ENSG00000284137 ENSG00000131899 ENSMUSG00000020536 UniProt Q15334 Q80Y17 RefSeq (mRNA) NM_004140 NM_001159404 NM_001159405 NM_008502 NM_001378836 NM_001378837 RefSeq (protein) NP_004131 NP_001152876 NP_001152877 NP_032528 NP_001365765 NP_001365766 Location (UCSC) Chr 17: 18.23 – 18.24 Mb Chr 11: 60.59 – 60.61 Mb PubMed search
Wikidata
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Lethal(2) giant larvae protein homolog 1 is a protein that in humans is encoded by the LLGL1 gene.

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.

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. Bibcode:2002PNAS...9916899M. 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. S2CID 18570360.
• 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. S2CID 23322807.
• 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. S2CID 9808205.
• 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. S2CID 12965688.