IQCB1

IQ motif containing B1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in ciliogenesis.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Senior-Loken syndrome 5

From UniProt:

Senior-Loken syndrome 5 (SLSN5): A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. [MIM:609254]

Cytogenetic Location: 3q13.33, which is the long (q) arm of chromosome 3 at position 13.33

Molecular Location: base pairs 121,769,761 to 121,835,079 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q13.33, which is the long (q) arm of chromosome 3 at position 13.33
  • NPHP5
  • PIQ
  • SLSN5