PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000170927
- UniProt:
- P08F94
- OMIM:
- 606702
- Synonyms:
- ARPKD, FCYT, FPC, TIGM1
Cilia effects upon perturbation of PKHD1
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
Ciliogenesis screen results (4 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.46) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Human ciliopathy phenotype:
- autosomal recessive polycystic kidney disease; polycystic kidney disease 4; Polycystic Kidney Disease; Meckel syndrome; Isolated polycystic liver disease; autosomal dominant polycystic liver disease; Renal cyst
Ciliopathy associations
- Autosomal Recessive Polycystic Kidney Disease
- Caroli Disease
- Renal-hepatic-pancreatic Dysplasia
References: PMID:11919560, PMID:12506140, PMID:19940839, PMID:15698423, PMID:33685088, PMID:33940108, PMID:19914852, PMID:20301501, PMID:35032595, PMID:29479522, PMID:34204582, PMID:33594464, PMID:35812282, PMID:25689455, PMID:32799815, PMID:16176423, PMID:35812281, PMID:24114580, PMID:17160262, PMID:39267511, PMID:15108277, PMID:36710876, PMID:38115240, PMID:33845788, PMID:36969528, PMID:31400123, PMID:27577217, PMID:38254980, PMID:17593545
Subcellular localization
basal body, centrosome, cilia
References: PMID:41005307, PMID:14978161, PMID:15458427, PMID:14983006
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Signaling (Hedgehog, GPCRs, ion channels)
- Transcription regulation
Function
Also known as FPC. Functional and/or structural component of primary cilia in kidney tubular cells (14978161). Mutations are involved in utosomal recessive polycystic kidney disease (15458427, 11898128, 14983006). PKHD1 may associate with a common pathway that alters ciliary function and cation channel activity and may act as an intraflagellar motor-binding protein. It also interacts with polycystins, which suggest it could be directly or indirectly involved in a common cystogenic pathway (14983006).