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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. [provided by RefSeq, Jul 2008] See more...
Aliases for LLGL1 Gene
Aliases for LLGL1 Gene
External Ids for LLGL1 Gene
- HGNC: 6628
- NCBI Entrez Gene: 3996
- Ensembl: ENSG00000131899
- OMIM®: 600966
- UniProtKB/Swiss-Prot: Q15334
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
-
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 (LLGL Scribble Cell Polarity Complex Component 1) is a Protein Coding gene. Diseases associated with LLGL1 include Smith-Magenis Syndrome and Diffuse Gastric Cancer. Among its related pathways are Hippo signaling pathway and PI3K-Akt signaling pathway. Gene Ontology (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 Summary 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.
Additional gene information for LLGL1 Gene
- HGNC (6628)
- NCBI Entrez Gene (3996)
- Ensembl (ENSG00000131899)
- OMIM® (600966)
- UniProtKB/Swiss-Prot (Q15334)
- Open Targets Platform(ENSG00000131899)
- Search for LLGL1 at DataMed
- Search for LLGL1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LLGL1 Gene
Genomics for LLGL1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for LLGL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around LLGL1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LLGL1
- Top Transcription factor binding sites by QIAGEN in the LLGL1 gene promoter:
-
- AML1a
- E47
- En-1
- FOXD1
- GATA-3
- HOXA3
- Pax-5
- RFX1
- Tal-1
Genomic Locations for LLGL1 Gene
Latest Assembly
- chr17:18,225,593-18,244,875
- (GRCh38/hg38)
- Size:
- 19,283 bases
- Orientation:
- Plus strand
Previous Assembly
- chr17:18,128,949-18,148,189
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 19,241 bases
- Orientation:
- Plus strand
- chr17:18,128,901-18,148,189
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 17p11.2 by HGNC
- 17p11.2 by Entrez Gene
- 17p11.2 by Ensembl
LLGL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
- SequenceCaution:
-
- Sequence=BAA19516.1; Type=Frameshift; Evidence={ECO:0000305};
- 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.
Protein Expression for LLGL1 Gene
Post-translational modifications for LLGL1 Gene
- Phosphorylated at least at Ser-663 by PRKCI.
-
Ubiquitination at Lys19, Lys27, Lys293, Lys502, and Lys780
- NX_Q15334 (NX_Q15334-1)
- Modification sites at PhosphoSitePlus
Other Protein References for LLGL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for LLGL1
- Novus Biologicals Antibodies for LLGL1
-
Abcam antibodies for LLGL1
- Invitrogen Antibodies for LLGL1 (AFLGC-LLGL1)
-
Biorbyt antibodies for LLGL1
-
Boster Bio Antibodies for LLGL1
-
Custom Antibody ServicesProSci Antibodies for LLGL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for LLGL1
Protein products for research
-
OriGene Purified Proteins for LLGL1
- Search Origene for MassSpec and Protein Over-expression Lysates for LLGL1
- Origene Custom Protein Services for LLGL1
- Novus Biologicals proteins for LLGL1
-
Abcam proteins for LLGL1
Assay products for research
No data available for DME Specific Peptides for LLGL1 Gene
Domains & Families for LLGL1 Gene
Gene Families for LLGL1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for LLGL1 Gene
- InterPro:
- Blocks:
-
- Lethal(2) giant larvae protein signature
- ProtoNet:
Suggested Antigen Peptide Sequences for LLGL1 Gene
- GenScript: Design optimal peptide antigens:
-
- LLGL1 protein (A0PJG1_HUMAN)
- Human homolog to the D-lgl gene protein (L2GL1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q15334- Family:
-
- Belongs to the WD repeat L(2)GL family.
Function for LLGL1 Gene
Molecular function for LLGL1 Gene
- 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.
- GENATLAS Biochemistry:
- Drosophila tumor suppressor gene lethal (2) giant larvae (115kDa) homolog,deleted in Smith-Magenis syndrome
Phenotypes From GWAS Catalog for LLGL1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | IBA,ISS | -- |
| GO:0005198 | structural molecule activity | TAS | 7542763 |
| GO:0005515 | protein binding | IEA,IPI | 7542763 |
| GO:0019901 | protein kinase binding | IDA | 7542763 |
| GO:0031267 | small GTPase binding | IBA | -- |
Phenotypes for LLGL1 Gene
- MGI mutant phenotypes for LLGL1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for LLGL1:
Animal Models for LLGL1 Gene
- MGI Knock Outs for LLGL1:
-
- Llgl1 Llgl1<tm1.1Vv>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for LLGL1 - Starting at $85 >
- * LLGL1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for LLGL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LLGL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for LLGL1
miRNA for LLGL1 Gene
- miRTarBase miRNAs that target LLGL1
-
- hsa-miR-196a-5p (MIRT026101)
- hsa-miR-24-3p (MIRT030531)
- hsa-miR-186-5p (MIRT045222)
- mmu-miR-466q (MIRT604882)
- mmu-miR-1927 (MIRT604883)
- mmu-miR-329-3p (MIRT604884)
- mmu-miR-362-3p (MIRT604885)
- hsa-miR-6513-5p (MIRT670577)
- hsa-miR-887-5p (MIRT670578)
- hsa-miR-3913-5p (MIRT670579)
- hsa-miR-3122 (MIRT670580)
- hsa-miR-450a-1-3p (MIRT670581)
- hsa-miR-7977 (MIRT670582)
- hsa-miR-762 (MIRT670583)
- hsa-miR-5001-5p (MIRT670584)
- hsa-miR-4498 (MIRT670585)
- hsa-miR-4492 (MIRT670586)
- hsa-miR-6862-5p (MIRT670587)
- hsa-miR-3945 (MIRT670588)
- hsa-miR-4253 (MIRT670589)
- hsa-miR-5787 (MIRT670590)
- hsa-miR-4505 (MIRT670591)
- hsa-miR-4284 (MIRT670592)
- hsa-miR-3622b-5p (MIRT670593)
- hsa-miR-6836-5p (MIRT670594)
- hsa-miR-6132 (MIRT670595)
- hsa-miR-6860 (MIRT670596)
- hsa-miR-612 (MIRT670597)
- hsa-miR-5189-5p (MIRT670598)
- hsa-miR-3187-5p (MIRT670599)
- hsa-miR-1285-3p (MIRT670600)
- hsa-miR-383-3p (MIRT670601)
- hsa-miR-4446-3p (MIRT670602)
- hsa-miR-665 (MIRT694715)
- hsa-miR-6780a-5p (MIRT694716)
- hsa-miR-6779-5p (MIRT694717)
- hsa-miR-3689c (MIRT694718)
- hsa-miR-3689b-3p (MIRT694719)
- hsa-miR-3689a-3p (MIRT694720)
- hsa-miR-30b-3p (MIRT694721)
- hsa-miR-1273h-5p (MIRT694722)
- hsa-miR-6788-5p (MIRT694723)
- hsa-miR-30c-2-3p (MIRT694724)
- hsa-miR-30c-1-3p (MIRT694725)
- hsa-miR-6811-5p (MIRT694726)
- hsa-miR-6511b-5p (MIRT694727)
- hsa-miR-6748-5p (MIRT694728)
- hsa-miR-6769b-5p (MIRT694729)
- hsa-miR-6769a-5p (MIRT694730)
- hsa-miR-3165 (MIRT694731)
- hsa-miR-4483 (MIRT694732)
- hsa-miR-1293 (MIRT694733)
- hsa-miR-6766-5p (MIRT694734)
- hsa-miR-6756-5p (MIRT694735)
- hsa-miR-6745 (MIRT694736)
- hsa-miR-363-5p (MIRT694737)
- hsa-miR-6799-5p (MIRT694738)
- hsa-miR-6883-5p (MIRT694739)
- hsa-miR-6785-5p (MIRT694740)
- hsa-miR-4728-5p (MIRT694741)
- hsa-miR-149-3p (MIRT694742)
- hsa-miR-7106-5p (MIRT694743)
- hsa-miR-7160-5p (MIRT694744)
- hsa-miR-6722-3p (MIRT694745)
- hsa-miR-1909-3p (MIRT694746)
- hsa-miR-6134 (MIRT694747)
- hsa-miR-7854-3p (MIRT694748)
- hsa-miR-6884-5p (MIRT694749)
- hsa-miR-485-5p (MIRT694750)
- hsa-miR-7162-3p (MIRT694751)
- hsa-miR-4478 (MIRT694752)
- hsa-miR-4419b (MIRT694753)
- hsa-miR-3929 (MIRT694754)
- hsa-miR-652-3p (MIRT732957)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LLGL1
- Browse OriGene Inhibitory RNA Products For LLGL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LLGL1
Clone products for research
- Applied Biological Materials (abm): Clones for LLGL1 - Starting at $45 >
- * LLGL1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211492
- MG211565
- MG216634
- MR211492
- MR211492L3
- MR211492L4
- MR211565
- MR211565L3
- MR211565L4
- MR216634
- MR216634L3
- MR216634L4
- RC217078
- RC217078L3
- RC217078L4
- RG217078
- RR211431
- RR211431L3
- RR211431L4
- MR211492L3V
- MR211492L4V
- MR211565L3V
- MR211565L4V
- MR216634L3V
- MR216634L4V
- RC217078L3V
- RC217078L4V
- RR211431L3V
- RR211431L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LLGL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LLGL1
Cell Lines for research
-
Horizon Cell Lines for LLGL1
No data available for Enzyme Numbers (IUBMB) , 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 developing axons (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| plasma membrane | 4 |
| endosome | 4 |
| golgi apparatus | 4 |
| nucleus | 3 |
| cytosol | 3 |
| extracellular | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000137 | Golgi cis cisterna | ISS | -- |
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005737 | cytoplasm | IBA,IDA | 7542763 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for LLGL1 Gene
Pathways & Interactions for LLGL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytoskeletal Signaling | ||
| 2 | Hippo signaling pathway | ||
| 3 | PI3K-Akt signaling pathway | ||
| 4 | Tight junction | ||
| 5 | Actin Nucleation by ARP-WASP Complex |
CDC42 Pathway
.41
|
|
Pathways by source for LLGL1 Gene
3 KEGG pathways for LLGL1 Gene
2 Qiagen pathways for LLGL1 Gene
- CDC42 Pathway
- Epithelial Tight Junctions
1 Cell Signaling Technology pathway for LLGL1 Gene
Interacting Proteins for LLGL1 Gene
GPS-Prot Interaction Network for LLGL1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006887 | exocytosis | IEA | -- |
| GO:0006893 | Golgi to plasma membrane transport | ISS | -- |
| GO:0007409 | axonogenesis | ISS | -- |
| GO:0008593 | regulation of Notch signaling pathway | IBA | 21873635 |
| GO:0030866 | cortical actin cytoskeleton organization | IDA | 7542763 |
Transcripts for LLGL1 Gene
mRNA/cDNA for LLGL1 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000316843 4212 nts (view in UCSC)
- ENST00000479155 6004 nts (view in UCSC)
- ENST00000621229 3187 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for LLGL1 - Starting at $85 >
- * LLGL1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for LLGL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LLGL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for LLGL1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LLGL1
- Browse OriGene Inhibitory RNA Products For LLGL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LLGL1
Clone products for research
- Applied Biological Materials (abm): Clones for LLGL1 - Starting at $45 >
- * LLGL1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211492
- MG211565
- MG216634
- MR211492
- MR211492L3
- MR211492L4
- MR211565
- MR211565L3
- MR211565L4
- MR216634
- MR216634L3
- MR216634L4
- RC217078
- RC217078L3
- RC217078L4
- RG217078
- RR211431
- RR211431L3
- RR211431L4
- MR211492L3V
- MR211492L4V
- MR211565L3V
- MR211565L4V
- MR216634L3V
- MR216634L4V
- RC217078L3V
- RC217078L4V
- RR211431L3V
- RR211431L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for LLGL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LLGL1
| 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
Expression 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).
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, MaxQB, and MOPED for LLGL1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LLGL1
SOURCE GeneReport for Unigene cluster for LLGL1 Gene:
Hs.513983mRNA 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(4.6)
Primer products for research
-
OriGene qPCR primer pairs for LLGL1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LLGL1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LLGL1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LLGL1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Llgl1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Llgl1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | LLGL1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | LLGL1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LLGL1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | LLGL1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | llgl1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | llgl1 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004483 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | l(2)gl 30 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | lgl-1 31 |
|
OneToMany | |
| F56F10.4 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for LLGL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for LLGL1: view image
Paralogs for LLGL1 Gene
Variants for LLGL1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LLGL1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 770678 | Benign: not provided | 18,233,827(+) |
A/. NM_004140.4(LLGL1):c.442= (p.Ser148=) |
NO_SEQUENCE_ALTERATION | |
| rs111836247 | Benign: not provided | 18,238,493(+) |
G/A NM_004140.4(LLGL1):c.2090G>A (p.Cys697Tyr) |
MISSENSE | |
| rs112697370 | Benign: not provided | 18,240,699(+) |
C/T NM_004140.4(LLGL1):c.2328C>T (p.Ala776=) |
SYNONYMOUS | |
| rs113943896 | Benign: not provided | 18,232,785(+) |
C/T NM_004140.4(LLGL1):c.375C>T (p.Pro125=) |
SYNONYMOUS | |
| rs115399906 | Benign: not provided | 18,234,014(+) |
G/A NM_004140.4(LLGL1):c.553G>A (p.Val185Met) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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)
Additional Variant Information for LLGL1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LLGL1 Gene
Disorders for LLGL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| smith-magenis syndrome |
|
|
| diffuse gastric cancer |
|
|
| colorectal cancer |
|
|
| potocki-lupski syndrome |
|
|
| melanoma |
|
|
Search LLGL1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for LLGL1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for LLGL1 Gene
Publications for LLGL1 Gene
- 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 23
- 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 23
- 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
- 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 41
- 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
ExternalLinks
Products for LLGL1 Gene
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Sources for LLGL1 Gene
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