Pkhd1 - polycystic kidney and hepatic disease 1 Gene

Also Known as FPC; Tigm1

Species: Mus musculus

Gene Type: protein coding
Gene ID: 241035

Summary

Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of epithelial cell apoptotic process; and positive regulation of epithelial cell proliferation. Acts upstream of or within several processes, including branching morphogenesis of an epithelial tube; cell-cell junction organization; and cilium assembly. Located in several cellular components, including 9+0 non-motile cilium; apical plasma membrane; and extracellular exosome. Is expressed in several structures, including adrenal cortex; gut; metanephros; neural tube; and ureteric bud. Used to study autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Human ortholog(s) of this gene implicated in autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Orthologous to human PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). [provided by Alliance of Genome Resources, Apr 2022]

Pkhd1 Products (1)

mRNA Protein Name
NM_153179.3 NP_694819.2 fibrocystin precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16243292 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of positive effect branching morphogenesis of an epithelial tube IMP
IMP: Inferred from mutant phenotype
20875407 MGI
acts upstream of positive effect cell-cell junction organization IMP
IMP: Inferred from mutant phenotype
20875407 MGI
acts upstream of or within cilium assembly IMP
IMP: Inferred from mutant phenotype
18235088 MGI
involved in establishment of mitotic spindle orientation IMP
IMP: Inferred from mutant phenotype
19959710 MGI
acts upstream of or within kidney development IDA
IDA: Inferred from direct assay
15067314 MGI
involved in negative regulation of epithelial cell apoptotic process IMP
IMP: Inferred from mutant phenotype
20875407 MGI
involved in positive regulation of epithelial cell proliferation IMP
IMP: Inferred from mutant phenotype
20875407 MGI
involved in regulation of establishment of planar polarity IMP
IMP: Inferred from mutant phenotype
19959710 MGI
Cellular Component GO Annotation Evidence References Source
located in 9+0 non-motile cilium IDA
IDA: Inferred from direct assay
24586199 MGI
located in Golgi apparatus IDA
IDA: Inferred from direct assay
28729032 MGI
located in apical plasma membrane IDA
IDA: Inferred from direct assay
18202188 MGI
located in cilium IDA
IDA: Inferred from direct assay
16956880 MGI
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
28729032 MGI
located in extracellular exosome IDA
IDA: Inferred from direct assay
22021705 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

fibrocystin

  • TIG multiple domains 1

  • polycystic kidney and hepatic disease 1 protein

  • polyductin

  • tigmin

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10596 PKHD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS10597 PKHD1L1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Pkhd1 NCBI NCBI:5314