Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

doi:10.1038/ng1520

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Nature genetics - 1 Mar 2005

Otto Edgar A, Loeys Bart, Khanna Hemant, Hellemans Jan, Sudbrak Ralf, Fan Shuling, Muerb Ulla, O'Toole John F, Helou Juliana, Attanasio Massimo, Utsch Boris, Sayer John A, Lillo Concepcion, Jimeno David, Coucke Paul, De Paepe Anne, Reinhardt Richard, Klages Sven, Tsuda Motoyuki, Kawakami Isao, Kusakabe Takehiro, Omran Heymut, Imm Anita, Tippens Melissa, Raymond Pamela A, Hill Jo, Beales Phil, He Shirley, Kispert Andreas, Margolis Benjamin, Williams David S, Swaroop Anand, Hildebrandt Friedhelm

Abstract excerpt

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children. Identification of four genes mutated in NPHP subtypes 1-4 (refs. 4-9) has linked the pathogenesis of NPHP to ciliary functions. Ten percent of affected individuals have retinitis pigmentosa, constituting the renal-retinal Senior-Loken syndrome (SLSN). Here we identify, by positional cloning, mutations in an...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Blotting, Northern

Share to Calmodulin

Share to Calmodulin-Binding Proteins

Share to Eye Proteins

Share to Pedigree

Share to Syndrome

Share to Two-Hybrid System Techniques

Source

Open in PubMed

Identifiers

PMID: 15723066
DOI: 10.1038/ng1520

Genes

IQCB1
RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.PMID 15723066Read ↗

Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.Semantic proximity Read ↗

The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network.Semantic proximity Read ↗

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.Semantic proximity Read ↗

Nephronophthisis-Associated CiliopathiesSemantic proximity Read ↗

NephronophthisisSemantic proximity Read ↗

Nephrocystin Specifically Localizes to the Transition Zone of Renal and Respiratory Cilia and Photoreceptor Connecting CiliaSemantic proximity Read ↗

In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.Semantic proximity Read ↗

Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Semantic proximity Read ↗

Genetic and physical interaction between the NPHP5 and NPHP6 gene products.Semantic proximity Read ↗

Molecular Genetics of Nephronophthisis and Medullary Cystic Kidney DiseaseSemantic proximity Read ↗

Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.Semantic proximity Read ↗

The Role of RPGR and Its Interacting Proteins in CiliopathiesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.