IQCB1, Official Symbol IQCB1provided by HGNC Official Full Name IQ motif containing B1provided by HGNC Primary source HGNC:HGNC:28949 See related Ensembl:ENSG00000173226 MIM:609237; AllianceGenome:HGNC:28949 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIQ; NPHP5; SLSN5 Summary This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in testis (RPKM 16.8), lymph node (RPKM 10.7) and 25 other tissues See more Orthologs mouse all