Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LLGL1 Gene

Aliases for LLGL1 Gene

  • Lethal Giant Larvae Homolog 1 (Drosophila) 2 3
  • DLG4 3 4 6
  • Human Homolog To The D-Lgl Gene Protein 3 4
  • HUGL-1 3 4
  • HUGL1 3 4
  • HUGL 3 4
  • LLGL 3 4
  • Lethal Giant Larvae (Drosophila) Homolog 1 2
  • Lethal(2) Giant Larvae Protein Homolog 1 3

External Ids for LLGL1 Gene

Previous HGNC Symbols for LLGL1 Gene

  • DLG4
  • LLGL
  • HUGL
  • HUGL-1

Previous GeneCards Identifiers for LLGL1 Gene

  • GC17P018374
  • GC17P019502
  • GC17P018071
  • GC17P018329
  • GC17P018069
  • GC17P017886

Summaries for LLGL1 Gene

Entrez Gene Summary for 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for LLGL1 Gene

LLGL1 (Lethal Giant Larvae Homolog 1 (Drosophila)) is a Protein Coding gene. Diseases associated with LLGL1 include smith-magenis syndrome. Among its related pathways are L1CAM interactions and Actin Nucleation by ARP-WASP Complex. GO annotations related to this gene include protein kinase binding. An important paralog of this gene is LLGL2.

UniProtKB/Swiss-Prot for LLGL1 Gene

  • Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane.

Gene Wiki entry for LLGL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LLGL1 Gene

Genomics for LLGL1 Gene

Regulatory Elements for LLGL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LLGL1 Gene

Start:
18,225,587 bp from pter
End:
18,244,875 bp from pter
Size:
19,289 bases
Orientation:
Plus strand

Genomic View for LLGL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LLGL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LLGL1 Gene

Proteins for LLGL1 Gene

  • Protein details for LLGL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15334-L2GL1_HUMAN
    Recommended name:
    Lethal(2) giant larvae protein homolog 1
    Protein Accession:
    Q15334
    Secondary Accessions:
    • A7MBM7
    • O00188
    • Q58F11
    • Q86UK6

    Protein attributes for LLGL1 Gene

    Size:
    1064 amino acids
    Molecular mass:
    115418 Da
    Quaternary structure:
    • Associated with nonmuscle myosin II heavy chain. Interacts with PRKCI/aPKC, PARD6B/Par-6 and PARD6A. Interacts with STX4A (By similarity). Interacts with RAB10 (GDP-bound form); the interaction is direct and promotes RAB10 association with membranes and activation through competition with the Rab inhibitor GDI1 (By similarity). Interacts with VPRBP.
    Miscellaneous:
    • Down-regulation of LLGL1 is associated with the progression of colorectal cancer and melanoma. Located within the Smith-Magenis syndrome region on chromosome 17; deleted in patients with this syndrome
    • Expression increases cell adhesion and decreases cell migration. Substitutes for Drosophila l(2)gl tumor suppressor function in vivo
    SequenceCaution:
    • Sequence=BAA19516.1; Type=Frameshift; Positions=205, 216, 737, 740, 794, 799, 866, 872, 881, 945, 968, 1024; Evidence={ECO:0000305};

neXtProt entry for LLGL1 Gene

Proteomics data for LLGL1 Gene at MOPED

Post-translational modifications for LLGL1 Gene

  • Phosphorylated at least at Ser-663 by PRKCI.
  • Ubiquitination at Lys19, Lys27, Lys293, Lys502, and Lys780
  • Modification sites at PhosphoSitePlus

Other Protein References for LLGL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LLGL1 (LLGL1)

No data available for DME Specific Peptides for LLGL1 Gene

Domains for LLGL1 Gene

Gene Families for LLGL1 Gene

HGNC:
  • WDR :WD repeat domain containing

Suggested Antigen Peptide Sequences for LLGL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15334

UniProtKB/Swiss-Prot:

L2GL1_HUMAN :
  • Q15334
Family:
  • Belongs to the WD repeat L(2)GL family.
Similarity:
  • Contains 14 WD repeats.
genes like me logo Genes that share domains with LLGL1: view

Function for LLGL1 Gene

Molecular function for LLGL1 Gene

GENATLAS Biochemistry: Drosophila tumor suppressor gene lethal (2) giant larvae (115kDa) homolog,deleted in Smith-Magenis syndrome
UniProtKB/Swiss-Prot Function: Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane.

Gene Ontology (GO) - Molecular Function for LLGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity ISS --
GO:0005198 structural molecule activity TAS 7542763
GO:0005515 protein binding IPI 7542763
GO:0019901 protein kinase binding IDA 7542763
genes like me logo Genes that share ontologies with LLGL1: view
genes like me logo Genes that share phenotypes with LLGL1: view

Animal Models for LLGL1 Gene

MGI Knock Outs for LLGL1:

Animal Model Products

CRISPR Products

miRNA for LLGL1 Gene

miRTarBase miRNAs that target LLGL1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for LLGL1 Gene

Localization for LLGL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LLGL1 Gene

Early endosome membrane. Golgi apparatus, trans-Golgi network membrane. Golgi apparatus membrane. Cell projection, axon. Cytoplasm, cytoskeleton. Note=Localized to the lateral membrane during the polarization and formation cell-cell contacts. Enriched in developping axons (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LLGL1 Gene COMPARTMENTS Subcellular localization image for LLGL1 gene
Compartment Confidence
cytoskeleton 5
endosome 4
golgi apparatus 4
cytosol 3
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for LLGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000137 Golgi cis cisterna ISS --
GO:0005737 cytoplasm IDA 7542763
GO:0005856 cytoskeleton TAS 7542763
GO:0030424 colocalizes_with axon ISS --
GO:0030864 cortical actin cytoskeleton IDA 7542763
genes like me logo Genes that share ontologies with LLGL1: view

Pathways for LLGL1 Gene

genes like me logo Genes that share pathways with LLGL1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for LLGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly IDA 7542763
GO:0006887 exocytosis IEA --
GO:0006893 Golgi to plasma membrane transport ISS --
GO:0007409 axonogenesis ISS --
GO:0030866 cortical actin cytoskeleton organization IDA 7542763
genes like me logo Genes that share ontologies with LLGL1: view

Transcripts for LLGL1 Gene

Unigene Clusters for LLGL1 Gene

Lethal giant larvae homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LLGL1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for LLGL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LLGL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1:
SP2:
SP3:

Relevant External Links for LLGL1 Gene

GeneLoc Exon Structure for
LLGL1
ECgene alternative splicing isoforms for
LLGL1

Expression for LLGL1 Gene

mRNA expression in normal human tissues for LLGL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LLGL1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LLGL1 Gene

SOURCE GeneReport for Unigene cluster for LLGL1 Gene Hs.513983

mRNA Expression by UniProt/SwissProt for LLGL1 Gene

Q15334-L2GL1_HUMAN
Tissue specificity: Expressed in brain, kidney, and muscle but is barely seen in heart and placenta. Down-regulated or lost in all cell lines and in most of the tumor samples analyzed. Loss was associated with advanced stage of the disease.
genes like me logo Genes that share expressions with LLGL1: view

In Situ Assay Products

Orthologs for LLGL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LLGL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LLGL1 35
  • 99.61 (n)
  • 99.61 (a)
LLGL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LLGL1 35
  • 85.84 (n)
  • 90.87 (a)
LLGL1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LLGL1 35
  • 88.22 (n)
  • 93.8 (a)
LLGL1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Llgl1 35
  • 85.11 (n)
  • 90.39 (a)
Llgl1 16
Llgl1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LLGL1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LLGL1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Llgl1 35
  • 85.1 (n)
  • 90.73 (a)
chicken
(Gallus gallus)
Aves LLGL1 35
  • 75.33 (n)
  • 74.7 (a)
LLGL1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LLGL1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia llgl1 35
  • 70.11 (n)
  • 72.32 (a)
zebrafish
(Danio rerio)
Actinopterygii llgl1 35
  • 67.6 (n)
  • 70.59 (a)
llgl1 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004483 35
  • 49.75 (n)
  • 43.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)gl 35
  • 48.26 (n)
  • 43.9 (a)
l(2)gl 36
  • 34 (a)
OneToMany
l(2)gl 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea lgl-1 36
  • 20 (a)
OneToMany
F56F10.4 37
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToMany
Species with no ortholog for LLGL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LLGL1 Gene

ENSEMBL:
Gene Tree for LLGL1 (if available)
TreeFam:
Gene Tree for LLGL1 (if available)

Paralogs for LLGL1 Gene

Paralogs for LLGL1 Gene

Selected SIMAP similar genes for LLGL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LLGL1: view

Variants for LLGL1 Gene

Sequence variations from dbSNP and Humsavar for LLGL1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1063682 -- 18,236,710(+) AGCAC(A/G/T)CTGAC missense, reference
rs1063683 - 18,237,519(+) GAGCA(C/G)GCGGT missense, reference
rs1063684 -- 18,237,534(+) GTGGC(C/T)ATCAT reference, synonymous-codon
rs1063685 -- 18,237,608(+) GGGGC(C/T)GCTGC reference, missense
rs1063686 -- 18,237,637(+) AGCCC(C/T)GTGTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LLGL1 Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
dgv3078n71 CNV Loss 21882294
nsv9503 CNV Gain 18304495
nsv907776 CNV Loss 21882294
esv27526 CNV Loss 19812545
nsv907777 CNV Loss 21882294

Relevant External Links for LLGL1 Gene

HapMap Linkage Disequilibrium report
LLGL1
Human Gene Mutation Database (HGMD)
LLGL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LLGL1 Gene

Disorders for LLGL1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for LLGL1 Gene including...

Search for LLGL1 Gene in MalaCards »

Relevant External Links for LLGL1

Genetic Association Database (GAD)
LLGL1
Human Genome Epidemiology (HuGE) Navigator
LLGL1
genes like me logo Genes that share disorders with LLGL1: view

No data available for UniProtKB/Swiss-Prot for LLGL1 Gene

Publications for LLGL1 Gene

  1. 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. (PMID: 7542763) Strand D.J. … Mechler B. (Oncogene 1995) 2 3 4 23
  2. Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer. (PMID: 15735678) Schimanski C.C. … Strand D. (Oncogene 2005) 3 4 23
  3. The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. (PMID: 8565641) Koyama K. … Nakamura Y. (Cytogenet. Cell Genet. 1996) 2 3 4
  4. aPKCzeta cortical loading is associated with Lgl cytoplasmic release and tumor growth in Drosophila and human epithelia. (PMID: 17369850) Grifoni D. … Pession A. (Oncogene 2007) 3 23
  5. Mammalian Lgl forms a protein complex with PAR-6 and aPKC independently of PAR-3 to regulate epithelial cell polarity. (PMID: 12725730) Yamanaka T. … Ohno S. (Curr. Biol. 2003) 3 4

Products for LLGL1 Gene

Sources for LLGL1 Gene

Back to Top

Content