| Gene Information | |
|---|---|
| Gene Name | BTS |
| Organism | Homo sapiens (Human) |
| Gene Length | 438 |
| Protein Names | Battenin (Batten disease protein) (Protein CLN3) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q13286 |
| Gene Card | CLN3 |
| Uniprot ID | Q13286 |
| Pfam | PF02487 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the cortical brain, pancreas, spleen, and testis with weaker expression in the peripheral nerve (at protein level). Highly expressed in gray matter (at protein level). {ECO:0000269|PubMed:10191116}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs386833714 rs386833719 rs386833727 rs386833730 rs386833731 rs121434286 rs386833744 rs386833694 rs386833695 |
| Subcellular location [CC] | Lysosome membrane {ECO:0000269|PubMed:10332042, ECO:0000269|PubMed:14644441, ECO:0000269|PubMed:15471887, ECO:0000269|PubMed:15598649, ECO:0000269|PubMed:17286803, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:23840424}; Multi-pass membrane protein {ECO:0000269|PubMed:17286803, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:9949212}. Late endosome {ECO:0000269|PubMed:10332042, ECO:0000269|PubMed:15471887, ECO:0000269|PubMed:17286803, ECO:0000269|PubMed:23840424}. Lysosome {ECO:0000269|PubMed:10332042, ECO:0000269|PubMed:10924275, ECO:0000269|PubMed:14699076, ECO:0000269|PubMed:19941651, ECO:0000269|PubMed:9949212}. Golgi apparatus {ECO:0000269|PubMed:10332042, ECO:0000269|PubMed:15240864, ECO:0000269|PubMed:23840424}. Golgi apparatus membrane {ECO:0000269|PubMed:9949212}. Golgi apparatus, Golgi stack {ECO:0000269|PubMed:15240864}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:10332042, ECO:0000269|PubMed:15240864}. Cell membrane {ECO:0000269|PubMed:14644441, ECO:0000269|PubMed:15240864}. Recycling endosome {ECO:0000269|PubMed:15240864}. Membrane raft {ECO:0000269|PubMed:15240864, ECO:0000269|PubMed:23840424}. Membrane, caveola {ECO:0000269|PubMed:23840424}. Early endosome membrane {ECO:0000269|PubMed:23840424}. Synapse, synaptosome {ECO:0000250|UniProtKB:Q61124}. Late endosome membrane {ECO:0000250|UniProtKB:Q61124}. Cytoplasmic vesicle, autophagosome {ECO:0000250|UniProtKB:Q61124}. Note=CLN3 is not present in late endosomes/lysosomes in fibroblasts and neurons (PubMed:15240864). Trafficks from cell membrane to Golgi via endosomes (PubMed:15240864). Osmotic stress changes the subcellular localization of CLN3 (PubMed:23840424). Trafficks to intracellular compartments via the plasma membranet through AP3M1-dependent mechanisms (PubMed:14644441). Excluded from the synaptic vesicles (By similarity). {ECO:0000250|UniProtKB:Q61124, ECO:0000269|PubMed:14644441, ECO:0000269|PubMed:15240864, ECO:0000269|PubMed:23840424}. |
| Mouse PG classification | NA |
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