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 |
|---|---|---|---|---|---|
OMIM IDMIM:606702 Ensembl IDEnsembl:ENSG00000170927 HGNC IDHGNC:HGNC:9016 PHARMGKB IDPA33348 Map Location6p12.3-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 |
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. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PKHD1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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