1. Gene
  2. PKHD1 - Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin Gene

PKHD1 - Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin Gene

Rattus norvegicus

Also known as AABR07067023.1

Gene ID: 301287 | Gene type: protein coding

About PKHD1

Summary

Predicted to be involved in several processes, including establishment of centrosome localization; regulation of epithelial cell proliferation; and regulation of intracellular signal transduction. Predicted to act upstream of or within several processes, including branching morphogenesis of an epithelial tube; cell-cell junction organization; and cilium assembly. Located in cilium and membrane. Used to study autosomal recessive polycystic kidney disease. Biomarker of autosomal recessive polycystic kidney disease. 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(2)

mRNA Protein Name
XM_039084509.1 XP_038940437.1 fibrocystin isoform X2
XM_008766937.3 XP_008765159.2 fibrocystin isoform X1
Protein Preferred Names Protein Names

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

fibrocystin

PKHD1, fibrocystin/polyductin

polycystic kidney and hepatic disease 1 (autosomal recessive)

polycystic kidney and hepatic disease 1 homolog

Orthologs Information

Species Symbol Source ID
Homo sapiens PKHD1 NCBI NCBI:5314