IQCB1
Sign in to saveAlso known as NPHP5, PIQ, SLSN5, IQ motif containing B1
IQ calmodulin-binding motif-containing protein 1 is a protein that in humans is encoded by the IQCB1 gene.
Gene data
IQCB1- Name
- IQ motif containing B1
- Type
- protein-coding
- Position
- 121,769,398–121,835,093 (−)
- Aliases
- NPHP5, PIQ, SLSN5
- Ensembl
- ENSG00000173226
- RefSeq RNA
- NM_001023570.4, NM_001023571.4, NM_001319107.2, NM_014642.2, NR_134968.2
- RefSeq protein
- NP_001018864.2, NP_001018865.2, NP_001306036.1, XP_005247968.1, XP_016863028.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
IQ motif containing B1
- Symbol
- IQCB1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:121,769,398-121,835,093
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 8766
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/9657
- genomic end
- 121553926
- genomic start
- 121769761
- chromosome
- human chromosome 3
- cytogenetic location
- 3q13.33|3q21.1
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
IQ calmodulin-binding motif-containing protein 1 is a protein that in humans is encoded by the IQCB1 gene.
==References==
Excerpted from Wikipedia’s “IQCB1” article, available under the CC BY-SA 4.0 licence.