| Gene Information | |
|---|---|
| Gene Name | PKDL |
| Organism | Homo sapiens (Human) |
| Gene Length | 805 |
| Protein Names | Polycystic kidney disease 2-like 1 protein (Polycystin-2 homolog) (Polycystin-2L1) (Polycystin-L) (Polycystin-L1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9P0L9 |
| Gene Card | PKD2L1 |
| Uniprot ID | Q9P0L9 |
| Pfam | PF08016; PF20519 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Detected in taste bud cells in fungiform papillae (at protein level) (PubMed:19812697). Ubiquitous (PubMed:9748274). Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver (PubMed:9748274, PubMed:9878261). Isoform 4 appears to be expressed only in transformed lymphoblasts. {ECO:0000269|PubMed:19812697, ECO:0000269|PubMed:9748274, ECO:0000269|PubMed:9878261}. |
| Pharmacological Animal Models | NA |
| 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 | 3TE3 (X-ray 2.69A ) 4GIF (X-ray 2.80A ) 6DU8 (EM 3.11A ) |
| DBSNP | rs17112895 rs7909153 rs2278842 rs6584356 rs12782963 |
| Subcellular location [CC] | Cell projection, cilium membrane {ECO:0000269|PubMed:24336289}; Multi-pass membrane protein {ECO:0000269|PubMed:30004384}. Cell membrane {ECO:0000269|PubMed:10517637, ECO:0000269|PubMed:11959145, ECO:0000269|PubMed:23212381, ECO:0000269|PubMed:25820328, ECO:0000269|PubMed:27754867, ECO:0000269|PubMed:29425510}; Multi-pass membrane protein {ECO:0000269|PubMed:30004384}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:A2A259}. Note=Interaction with PKD1 or PKD1L3 is required for localization to the cell membrane. {ECO:0000250|UniProtKB:A2A259}. |
| Mouse PG classification | NA |
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