Nphp3 - nephronophthisis 3 (adolescent) Gene

Also Known as pcy; C230078J01; 3632410F03Rik; D330020E01Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 74025

Summary

Involved in several processes, including cilium assembly; determination of left/right symmetry; and maintenance of animal organ identity. Acts upstream of or within several processes, including extracellular matrix organization; non-motile cilium assembly; and positive regulation of protein binding activity. Located in ciliary base and ciliary inversin compartment. Is expressed in embryo. Used to study autosomal dominant polycystic kidney disease and nephronophthisis 3. Human ortholog(s) of this gene implicated in Meckel syndrome 7; nephronophthisis; nephronophthisis 3; and renal-hepatic-pancreatic dysplasia. Orthologous to human NPHP3 (nephrocystin 3). [provided by Alliance of Genome Resources, Apr 2022]

Nphp3 Products (2)

mRNA	Protein	Name
NM_028721.3	NP_082997.3	nephrocystin-3 isoform a
NM_172460.1	NP_766048.1	nephrocystin-3 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29395339	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	18371931	MGI
involved in determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	18371931	MGI
acts upstream of or within establishment or maintenance of cell polarity	IMP IMP: Inferred from mutant phenotype	22832925	MGI
acts upstream of or within extracellular matrix organization	IMP IMP: Inferred from mutant phenotype	7539536	MGI
acts upstream of or within kidney development	IMP IMP: Inferred from mutant phenotype	24178445	MGI
acts upstream of or within kidney morphogenesis	IMP IMP: Inferred from mutant phenotype	29395339	MGI
involved in kidney morphogenesis	IMP IMP: Inferred from mutant phenotype	18371931	MGI
acts upstream of or within lipid metabolic process	IMP IMP: Inferred from mutant phenotype	1385849	MGI
involved in maintenance of animal organ identity	IMP IMP: Inferred from mutant phenotype	12872122	MGI
acts upstream of or within non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	22832925	MGI
acts upstream of or within positive regulation of protein binding	IMP IMP: Inferred from mutant phenotype	29395339	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in ciliary base	IDA IDA: Inferred from direct assay	20169535	MGI
located in ciliary inversin compartment	IDA IDA: Inferred from direct assay	20169535	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
nephrocystin-3

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09484	NPHP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Nphp3	NCBI	NCBI:27031