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; OMA:LLGL1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	18,244,875 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	60,605,012 bp
RNA expression pattern
	Top expressed in
	C1 segment; ; ventricular zone; ; ganglionic eminence; ; substantia nigra; ; hippocampus proper; ; temporal lobe; ; amygdala; ; putamen; ; stromal cell of endometrium; ; caudate nucleus;
	Top expressed in
	medial ganglionic eminence; ; ventricular zone; ; Rostral migratory stream; ; CA3 field; ; primitive streak; ; entorhinal cortex; ; somite; ; perirhinal cortex; ; mandibular prominence; ; lactiferous gland;
	More reference expression data
	; ;
	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
	3996
	16897
	ENSG00000284137; ENSG00000131899
	ENSMUSG00000020536
	Q15334
	Q80Y17
	NM_004140
	NM_001159404; NM_001159405; NM_008502; NM_001378836; NM_001378837
	NP_004131
	NP_001152876; NP_001152877; NP_032528; NP_001365765; NP_001365766
	Wikidata
View/Edit Human	View/Edit Mouse

Lethal(2) giant larvae protein homolog 1 is a protein that in humans is encoded by the LLGL1 gene.^[5]^[6]^[7]

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.^[7]

References

^ ^a ^b ^c ENSG00000131899 GRCh38: Ensembl release 89: ENSG00000284137, ENSG00000131899 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020536 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: LLGL1 lethal giant larvae homolog 1 (Drosophila)".

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.
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.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] ENSG00000131899 GRCh38: Ensembl release 89: ENSG00000284137, ENSG00000131899 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020536 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7542763-5] 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.

[pmid8565641-6] 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.

[entrez-7] "Entrez Gene: LLGL1 lethal giant larvae homolog 1 (Drosophila)".

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References

Further reading