| Gene Information | |
|---|---|
| Gene Name | PKD1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 4303 |
| Protein Names | Polycystin-1 (PC1) (Autosomal dominant polycystic kidney disease 1 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1064 ( ENSG00000008710 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | PKD1 |
| Uniprot ID | P98161 |
| Pfam | PF00059; PF13855; PF00801; PF08016; PF01477; PF20519; PF02010; PF01822 |
| In ASD | no |
| Allosteric Prediction | yes (0.456264521) |
| Ortholog in Animals | GuineaPig_ PKD1 ( ortholog_one2one ) Macaque_ PKD1 ( ortholog_one2one ) Mouse_ Pkd1 ( ortholog_one2one ) Pig_ PKD1 ( ortholog_one2one ) Rat_ Pkd1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | PKDREJ, PKD1L2, PKD2L2, DENND5B, DENND5A, PKD2L1, LOXHD1, PKD1L3, PKD1L1, PKD2 |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002240(Rat);0.025(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1B4R (NMR - ) 6A70 (EM 3.60A ) |
| DBSNP | rs560049593 rs886038369 rs958271752 rs1567219544 rs199476099 rs1232180956 rs1555458892 rs58598099 rs149022148 rs1555458413 rs1616940 rs40433 rs199476100 rs2369063 rs1266492292 rs2549677 rs241573 rs573566419 rs146887330 rs1033550407 rs143690392 rs116092985 rs148164067 rs241572 rs761106434 rs139520275 rs241571 rs151176070 rs778028644 rs144137200 rs754890213 rs137978188 rs752388015 rs1383930225 rs140869992 rs139971481 rs200433577 rs1567187445 rs538769374 rs1555453210 rs1555453207 rs151257298 rs1161298621 rs2432404 rs3874655 rs200037070 rs28369051 rs758896945 rs748240352 rs2432405 rs778565182 rs9936785 rs374500158 rs1490043027 rs144557371 rs201238819 rs147350387 rs150568356 rs141717814 rs1800569 rs1800568 rs1596527405 rs144979397 rs1456510041 rs1057518897 rs151089809 rs367746233 rs534112936 rs149151043 rs1567177684 rs755522953 rs752447240 rs147788838 rs750780241 rs13337123 rs150189496 rs373952574 rs1555450487 rs1063401 rs117896488 rs17135779 rs200522524 rs778055216 rs9925969 rs1358566538 rs139945204 rs140791671 rs201780393 rs1242837732 rs781263445 rs371283948 rs776463508 rs140189010 rs45478794 rs141946034 rs34197769 rs79000340 rs781492044 rs1416373452 rs1555446576 rs1327414405 rs1167476946 rs142768096 rs10960 rs3209986 rs1306483854 rs1309138642 rs148478410 rs1282668884 rs115538130 rs547854563 rs114251396 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:10339594, ECO:0000269|PubMed:20980620, ECO:0000269|PubMed:27214281, ECO:0000269|PubMed:27259053, ECO:0000269|PubMed:30093605}; Multi-pass membrane protein {ECO:0000269|PubMed:20980620, ECO:0000269|PubMed:30093605}. Cell projection, cilium {ECO:0000250|UniProtKB:O08852}. Endoplasmic reticulum {ECO:0000250|UniProtKB:O08852}. Golgi apparatus {ECO:0000250|UniProtKB:O08852}. Note=PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain. PKD1:PKD2 interaction is required to reach the Golgi apparatus from endoplasmic reticulum and then traffic to the cilia (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). Cell surface localization requires GANAB (PubMed:27259053). {ECO:0000250|UniProtKB:O08852, ECO:0000269|PubMed:27259053}. |
| Mouse PG classification | HPG |
| click here to return to the previous page | |