IQCB1

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]

Description

IQ motif containing B1

Tissue specificity

Low tissue specificity

Subcell location

Microtubules, Cytokinetic bridge, Mitotic spindle

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (121769761 - 121835079)

Ensembl ID

ENSG00000173226  (ver. 103.38)

Orthologs

Mouse Iqcb1: ENSMUSG00000022837

UniProt

Q15051

neXtProt

NX_Q15051

Human splice variants
Mouse splice variants

Protein structure