| Gene Information | |
|---|---|
| Gene Name | GLC1E |
| Organism | Homo sapiens (Human) |
| Gene Length | 577 |
| Protein Names | Optineurin (E3-14.7K-interacting protein) (FIP-2) (Huntingtin yeast partner L) (Huntingtin-interacting protein 7) (HIP-7) (Huntingtin-interacting protein L) (NEMO-related protein) (Optic neuropathy-inducing protein) (Transcription factor IIIA-interacting protein) (TFIIIA-IntP) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q96CV9 |
| Gene Card | OPTN |
| Uniprot ID | Q96CV9 |
| Pfam | PF16516; PF11577 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Present in aqueous humor of the eye (at protein level). Expressed in the trabecular meshwork (at protein level) (PubMed:11834836, PubMed:12379221, PubMed:12646749). Expressed in nonpigmented ciliary epithelium (at protein level) (PubMed:11834836). Expressed at high levels in skeletal muscle, also detected in heart, brain, pancreas, kidney, placenta and liver (PubMed:9488477). Expressed in dermal fibroblasts (at protein level) (PubMed:11834836). {ECO:0000269|PubMed:11834836, ECO:0000269|PubMed:12379221, ECO:0000269|PubMed:12646749, ECO:0000269|PubMed:9488477}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002240(Rat);0.018182(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2LO4 (NMR - ) 2LUE (NMR - ) 3VTV (X-ray 1.70A ) 3VTW (X-ray 2.52A ) 5AAZ (NMR - ) 5B83 (X-ray 2.69A ) 5EOA (X-ray 2.50A ) 5EOF (X-ray 2.05A ) 7CZM (X-ray 2.00A ) |
| DBSNP | rs200710076 rs28939688 rs11258194 rs1346865805 rs750088207 rs761558354 rs7068431 rs523747 rs267606929 rs373425395 rs75654767 |
| Subcellular location [CC] | Cytoplasm, perinuclear region. Golgi apparatus {ECO:0000269|PubMed:10807909, ECO:0000269|PubMed:20085643, ECO:0000269|PubMed:20174559, ECO:0000269|PubMed:27534431, ECO:0000269|PubMed:27538435}. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, autophagosome. Cytoplasmic vesicle. Recycling endosome {ECO:0000269|PubMed:20085643}. Note=Found in the perinuclear region and associates with the Golgi apparatus (PubMed:27534431). Colocalizes with MYO6 and RAB8 at the Golgi complex and in vesicular structures close to the plasma membrane. Localizes to LC3-positive cytoplasmic vesicles upon induction of autophagy. {ECO:0000269|PubMed:27534431}. |
| Mouse PG classification | NA |
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