| Gene Information | |
|---|---|
| Gene Name | HUGL |
| Organism | Homo sapiens (Human) |
| Gene Length | 1064 |
| Protein Names | Lethal(2) giant larvae protein homolog 1 (LLGL) (DLG4) (Hugl-1) (Human homolog to the D-lgl gene protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q15334 |
| Gene Card | LLGL1 |
| Uniprot ID | Q15334 |
| Pfam | PF08366; PF00400 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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. {ECO:0000269|PubMed:15735678, ECO:0000269|PubMed:16170365, ECO:0000269|PubMed:7542763}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.138382(Rat);0.123890(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs2290505 rs1063683 |
| Subcellular location [CC] | Early endosome membrane {ECO:0000250}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}. Cell projection, axon {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12725730, ECO:0000269|PubMed:7542763}. Note=Localized to the lateral membrane during the polarization and formation cell-cell contacts. Enriched in developing axons (By similarity). {ECO:0000250}. |
| Mouse PG classification | NA |
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