PKHD1
Summary: The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| PKHD1, fibrocystin/polyductin | MIM:606702 | Ensembl:ENSG00000170927 | HGNC:HGNC:9016 | PA33348 | 6p12.3-p12.2 |
GO terms in PKHD1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ISS | GO:0001822 | kidney development |
| BP | IMP | GO:0006874 | cellular calcium ion homeostasis |
| BP | IEA | GO:0007165 | signal transduction |
| BP | IMP | GO:0008284 | positive regulation of cell proliferation |
| BP | IMP | GO:0010824 | regulation of centrosome duplication |
| BP | IBA | GO:0030214 | hyaluronan catabolic process |
| BP | IMP | GO:0032006 | regulation of TOR signaling |
| BP | IMP | GO:0032088 | negative regulation of NF-kappaB transcription factor activity |
| BP | NAS | GO:0042592 | homeostatic process |
| BP | IMP | GO:0043066 | negative regulation of apoptotic process |
| BP | ISS | GO:0051271 | negative regulation of cellular component movement |
| BP | IMP | GO:0051898 | negative regulation of protein kinase B signaling |
| BP | ISS | GO:0060271 | cilium assembly |
| BP | IMP | GO:0070372 | regulation of ERK1 and ERK2 cascade |
| BP | ISS | GO:0098609 | cell-cell adhesion |
| CC | IEA | GO:0000775 | chromosome, centromeric region |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005813 | centrosome |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005929 | cilium |
| CC | IDA | GO:0005929 | cilium |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016324 | apical plasma membrane |
| CC | TAS | GO:0031362 | anchored component of external side of plasma membrane |
| CC | IDA | GO:0036064 | ciliary basal body |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IDA | GO:0072686 | mitotic spindle |
| MF | IBA | GO:0004415 | hyalurononglucosaminidase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0005540 | hyaluronic acid binding |
| MF | NAS | GO:0038023 | signaling receptor activity |
Gene expression in normal tissue: PKHD1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PKHD1
| Database | Pathway ID | Pathway Des. |
|---|
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD782 | DC-45-A2 | 6 |
| iGMDRD870 | BRD63610 | 2 |
| iGMDRD885 | Compound 110 | 2 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD474 | Avrainvillamide | 3 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD247 | Blebbistatin | 2 |
| iGMDRD255 | SB225002 | 1 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD60 | Quinoclamine | 4 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD524 | ISX-9 | 2 |
| iGMDRD23 | Gossypol | 2 |
| iGMDRD874 | BRD8958 | 2 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD188 | Piperlongumine | 4 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD780 | PP-30 | 2 |
| iGMDRD577 | BIX01294 | 10 |
| iGMDRD546 | BMS-754807 | 2 |
| iGMDRD781 | Sirolimus | 1 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD151 | CHM-1 | 6 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD889 | Compound 7d-cis | 5 |
| iGMDRD387 | CHIR-99021 | 2 |
| iGMDRD466 | Chaetocin | 2 |
| iGMDRD280 | CYTOCHALASIN B | 1 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD375 | GW-405833 | 2 |
| iGMDRD152 | 179324-69-7 | 5 |
| iGMDRD434 | BMS-536924 | 4 |
| iGMDRD77 | Itraconazole | 2 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD202 | Curcumin | 6 |
| iGMDRD214 | AGK 2 | 2 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD886 | Compound 1541A | 5 |
| iGMDRD322 | FK 866 | 3 |
| iGMDRD82 | Quiflapon | 1 |
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD414 | MST-312 | 1 |
| iGMDRD286 | Nsc 632839 | 6 |
| iGMDRD329 | Merck60 | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 5 |
| iGMDRD701 | NVP-AUY922 | 3 |
| iGMDRD79 | Gemcitabine | 1 |
| iGMDRD84 | Lovastatin acid | 5 |
| iGMDRD48 | Dexamethasone | 2 |
| iGMDRD177 | Teniposide | 5 |
| iGMDRD901 | ELCPK | 3 |
| iGMDRD85 | Ursolic acid | 1 |
| iGMDRD237 | ABT-751 | 3 |
| iGMDRD698 | Neratinib | 6 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PKHD1
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