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Aliases for LLGL1 Gene

Aliases for LLGL1 Gene

  • LLGL1, Scribble Cell Polarity Complex Component 2 3 5
  • Lethal Giant Larvae Homolog 1, Scribble Cell Polarity Complex Component 2 3
  • Human Homolog To The D-Lgl Gene Protein 3 4
  • HUGL-1 3 4
  • HUGL1 3 4
  • DLG4 3 4
  • HUGL 3 4
  • LLGL 3 4
  • Lethal Giant Larvae Homolog 1 (Drosophila) 2
  • Lethal(2) Giant Larvae Protein Homolog 1 3
  • LGL1 3
  • Mgl1 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
  • GC17P018128
  • 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 (LLGL1, Scribble Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with LLGL1 include Smith-Magenis Syndrome and Adiaspiromycosis. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and PI3K-Akt signaling pathway. GO annotations related to this gene include protein kinase binding and structural molecule activity. 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

Additional gene information for LLGL1 Gene

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

Genomics for LLGL1 Gene

Regulatory Elements for LLGL1 Gene

Enhancers for LLGL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H018246 1.3 Ensembl ENCODE dbSUPER 34.7 +22.3 22322 3 HDAC1 HDGF PKNOX1 RB1 ARID4B KLF17 RAD21 GLIS2 ZNF143 DEK LLGL1 SHMT1 MYO15A GC17M018245
GH17H018223 1.2 ENCODE dbSUPER 28 -0.3 -331 2 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ETS1 GLIS2 ELK1 SMCR8 LLGL1 TOP3A SHMT1 FAM106A MIEF2 ENSG00000273018 ENSG00000262202 DRG2 MYO15A
GH17H018234 0.9 ENCODE dbSUPER 35 +10.2 10188 1 MAZ JUN ZIC2 HIC1 ZFHX2 GLIS2 POLR2A ZBTB33 PRDM10 FOS LLGL1 MIEF2 SHMT1 FLII MYO15A GC17M018245
GH17H018256 1.4 ENCODE dbSUPER 21 +33.9 33940 6 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 SHMT1 FAM106A LLGL1 SMCR8 MIEF2 FOXO3B ENSG00000264885 ENSG00000262202 DRG2 MYO15A
GH17H018152 0.8 ENCODE 24.8 -71.8 -71837 1 HDGF CEBPG ZIC2 ZNF2 GLIS2 POLR2A KLF7 PRDM10 MAZ SP3 LLGL1 SHMT1 ZNF286B MYO15A LOC105371568 ALKBH5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LLGL1 on UCSC Golden Path with GeneCards custom track

Promoters for LLGL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092061 213 1201 HDGF PKNOX1 ZFP64 SIN3A ZNF2 ETS1 ELK1 ZNF143 FOS NFYC

Genomic Location for LLGL1 Gene

Chromosome:
17
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

Genes around LLGL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LLGL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 DCAF1.
    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

Post-translational modifications for LLGL1 Gene

  • Phosphorylated at least at Ser-663 by PRKCI.
  • Ubiquitination at posLast=1919, Lys27, posLast=293293, posLast=502502, and Lys780
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LLGL1 Gene

Domains & Families for LLGL1 Gene

Gene Families for LLGL1 Gene

Suggested Antigen Peptide Sequences for LLGL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15334

UniProtKB/Swiss-Prot:

L2GL1_HUMAN :
  • Belongs to the WD repeat L(2)GL family.
Family:
  • Belongs to the WD repeat L(2)GL family.
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,IBA --
GO:0005198 structural molecule activity TAS 7542763
GO:0005515 protein binding IPI 7542763
GO:0017137 Rab GTPase binding IBA --
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LLGL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LLGL1 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
plasma membrane 4
endosome 4
nucleus 3
cytosol 3
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for LLGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000137 Golgi cis cisterna ISS --
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IDA,IEA 7542763
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with LLGL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LLGL1 Gene

Pathways & Interactions for LLGL1 Gene

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

Pathways by source for LLGL1 Gene

1 Cell Signaling Technology pathway for LLGL1 Gene
2 Qiagen pathways for LLGL1 Gene

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:0017157 regulation of exocytosis IBA --
genes like me logo Genes that share ontologies with LLGL1: view

No data available for SIGNOR curated interactions for LLGL1 Gene

Drugs & Compounds for LLGL1 Gene

No Compound Related Data Available

Transcripts for LLGL1 Gene

Unigene Clusters for LLGL1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LLGL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for LLGL1 Gene

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.6).

Protein differential expression in normal tissues from HIPED for LLGL1 Gene

This gene is overexpressed in Spinal cord (24.1), Frontal cortex (13.7), and Fetal Brain (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LLGL1 Gene



Protein tissue co-expression partners for LLGL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LLGL1 Gene:

LLGL1

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.

Evidence on tissue expression from TISSUES for LLGL1 Gene

  • Nervous system(4.5)
  • Blood(2.4)
  • Lung(2.4)
  • Stomach(2)
genes like me logo Genes that share expression patterns with LLGL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for LLGL1 Gene

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 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia LLGL1 33 34
  • 88.22 (n)
cow
(Bos Taurus)
Mammalia LLGL1 33 34
  • 85.84 (n)
mouse
(Mus musculus)
Mammalia Llgl1 33 16 34
  • 85.11 (n)
rat
(Rattus norvegicus)
Mammalia Llgl1 33
  • 85.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LLGL1 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LLGL1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LLGL1 33 34
  • 75.33 (n)
lizard
(Anolis carolinensis)
Reptilia LLGL1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia llgl1 33
  • 70.11 (n)
zebrafish
(Danio rerio)
Actinopterygii llgl1 33 34
  • 67.6 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004483 33
  • 49.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(2)gl 35 33 34
  • 48.26 (n)
worm
(Caenorhabditis elegans)
Secernentea F56F10.4 35
  • 20 (a)
lgl-1 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
Species where no ortholog for LLGL1 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs1000140560 -- 18,236,393(+) CTCCA(G/T)GTGCA intron-variant
rs1000265507 -- 18,227,218(+) GCCAG(G/T)ACCCT intron-variant
rs1000506511 -- 18,225,645(+) GCGGG(C/T)GGCGG utr-variant-5-prime
rs1000638116 -- 18,243,275(+) GCTAA(A/T)TTTTT intron-variant
rs1000789030 -- 18,227,474(+) CCTCA(C/G)AACTC intron-variant

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

Variant ID Type Subtype PubMed ID
esv27526 CNV loss 19812545
nsv1072724 CNV deletion 25765185
nsv1126451 CNV deletion 24896259
nsv155 OTHER inversion 15895083
nsv499114 OTHER inversion 21111241
nsv9503 CNV gain 18304495

Variation tolerance for LLGL1 Gene

Residual Variation Intolerance Score: 2.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.03; 60.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LLGL1 Gene

Human Gene Mutation Database (HGMD)
LLGL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LLGL1

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

Disorders for LLGL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for LLGL1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • 17p11.2 microdeletion syndrome
adiaspiromycosis
potocki-luspski syndrome
  • 17p11.2 microduplication syndrome
deafness, autosomal dominant 9
  • autosomal dominant nonsyndromic deafness 9
- elite association - COSMIC cancer census association via MalaCards
Search LLGL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LLGL1

Genetic Association Database (GAD)
LLGL1
Human Genome Epidemiology (HuGE) Navigator
LLGL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LLGL1
genes like me logo Genes that share disorders with LLGL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 … Coy JF (Oncogene 1995) 2 3 4 22 60
  2. Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer. (PMID: 15735678) Schimanski CC … Strand D (Oncogene 2005) 3 4 22 60
  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 (Cytogenetics and cell genetics 1996) 2 3 4 60
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  5. 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 22 60

Products for LLGL1 Gene

Sources for LLGL1 Gene

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