Fibrocystin

PKHD1
Identifiers
Aliases	PKHD1, ARPKD, FCYT, TIGM1, polycystic kidney and hepatic disease 1 (autosomal recessive), fibrocystin/polyductin, FPC, PKD4, PKHD1 ciliary IPT domain containing fibrocystin/polyductin
External IDs	OMIM: 606702; MGI: 2155808; HomoloGene: 16336; GeneCards: PKHD1; OMA:PKHD1 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	52,087,613 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	20,688,288 bp
RNA expression pattern
	Top expressed in
	renal medulla; ; pancreatic epithelial cell; ; body of pancreas; ; corpus epididymis; ; human kidney; ; testicle; ; tibialis anterior muscle; ; caput epididymis; ; islet of Langerhans; ; right lobe of liver;
	Top expressed in
	transitional epithelium of urinary bladder; ; human kidney; ; renal calyx; ; efferent ductule; ; medullary collecting duct; ; inner renal medulla; ; right kidney; ; left lobe of liver; ; morula; ; pancreas;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; signaling receptor activity;
Cellular component	cytoplasm; integral component of membrane; ciliary basal body; centrosome; cell projection; membrane; plasma membrane; spindle; chromosome; apical plasma membrane; anchored component of external side of plasma membrane; perinuclear region of cytoplasm; mitotic spindle; chromosome, centromeric region; extracellular exosome; cytoskeleton; cilium;
Biological process	negative regulation of protein kinase B signaling; regulation of centrosome duplication; regulation of TOR signaling; kidney development; cellular calcium ion homeostasis; negative regulation of apoptotic process; positive regulation of cell population proliferation; regulation of ERK1 and ERK2 cascade; negative regulation of NF-kappaB transcription factor activity; homeostatic process; cilium assembly; cell-cell adhesion;
	Sources:Amigo / QuickGO
Orthologs
	5314
	241035
	ENSG00000170927
	ENSMUSG00000043760
	P08F94
	E9PZ36
	NM_138694; NM_170724
	NM_153179
	NP_619639; NP_733842
	NP_694819
	Wikidata
View/Edit Human	View/Edit Mouse

Available protein structures:
PDB	IPR029927
AlphaFold	IPR029927;

Fibrocystin
Fibrocystin
Identifiers
Symbol	Fibrocystin
InterPro	IPR029927
Membranome	632
PDB
Available protein structures:
PDB	IPR029927
AlphaFold	IPR029927;

Fibrocystin is a large, receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium. FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway.