Pkhd1 - polycystic kidney and hepatic disease 1 Gene

Mus musculus

Also known as FPC; Tigm1

Gene ID: 241035 | Gene type: protein coding

About Pkhd1

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16243292	MGI

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

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