| Gene Information | |
|---|---|
| Gene Name | BHD |
| Organism | Homo sapiens (Human) |
| Gene Length | 579 |
| Protein Names | Folliculin (BHD skin lesion fibrofolliculoma protein) (Birt-Hogg-Dube syndrome protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q8NFG4 |
| Gene Card | FLCN |
| Uniprot ID | Q8NFG4 |
| Pfam | PF11704; PF16692 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach. {ECO:0000269|PubMed:12204536}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001823(Rat);0.133333(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3V42 (X-ray 2.00A ) 6NZD (EM 3.60A ) 6ULG (EM 3.31A ) |
| DBSNP | rs137852930 rs786203218 rs78683075 rs143483053 rs557336321 rs1060502374 rs375082054 rs41419545 rs199643834 |
| Subcellular location [CC] | Lysosome membrane {ECO:0000269|PubMed:24081491, ECO:0000269|PubMed:24095279, ECO:0000269|PubMed:27113757, ECO:0000269|PubMed:29848618, ECO:0000269|PubMed:31672913}. Cytoplasm, cytosol {ECO:0000269|PubMed:17028174, ECO:0000269|PubMed:18663353, ECO:0000269|PubMed:24081491, ECO:0000269|PubMed:24095279, ECO:0000269|PubMed:29848618, ECO:0000269|PubMed:31672913}. Cell projection, cilium {ECO:0000269|PubMed:23784378, ECO:0000269|PubMed:27072130}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23784378}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:23784378}. Nucleus {ECO:0000269|PubMed:17028174, ECO:0000269|PubMed:18663353}. Note=Localizes to lysosome membrane in amino acid-depleted conditions and relocalizes to the cytosol upon refeeding (PubMed:24095279, PubMed:29848618, PubMed:31672913). Colocalizes with FNIP1 and FNIP2 in the cytoplasm (PubMed:17028174, PubMed:18663353). Also localizes to motile and non-motile cilia, centrosomes and the mitotic spindle (PubMed:23784378). {ECO:0000269|PubMed:17028174, ECO:0000269|PubMed:18663353, ECO:0000269|PubMed:23784378, ECO:0000269|PubMed:24095279, ECO:0000269|PubMed:29848618, ECO:0000269|PubMed:31672913}. |
| Mouse PG classification | NA |
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