LLGL1

Protein-coding gene in the species Homo sapiens
LLGL1
Identifiers
AliasesLLGL1, DLG4, HUGL, HUGL-1, HUGL1, LLGL, Lgl1, Mgl1, scribble cell polarity complex component, LLGL scribble cell polarity complex component 1
External IDsOMIM: 600966; MGI: 102682; HomoloGene: 31220; GeneCards: LLGL1; OMA:LLGL1 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for LLGL1
Genomic location for LLGL1
Band17p11.2Start18,225,635 bp[1]
End18,244,875 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for LLGL1
Genomic location for LLGL1
Band11 B2|11 37.81 cMStart60,590,549 bp[2]
End60,605,012 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 11: 60.59 – 60.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c ENSG00000131899 GRCh38: Ensembl release 89: ENSG00000284137, ENSG00000131899 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b "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. 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.


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