LLGL1

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

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)[1] Band 17p11.2 Start 18,225,635 bp[1] End 18,244,875 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B2|11 37.81 cM Start 60,590,549 bp[2] End 60,605,012 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 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 [3] [4]
Wikidata
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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]