Version 5.4
Homo sapiens Gene: IQCB1
Summary
InnateDB Gene IDBG-52140.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IQCB1
Gene Name IQ motif containing B1
Synonyms NPHP5; PIQ; SLSN5
Species Homo sapiens
Ensembl Gene ENSG00000173226
Encoded Proteins
IDBP-52142
IQ motif containing B1
IDBP-52144
IQ motif containing B1
IDBP-243177
IQ motif containing B1
IDBP-475166
IQ motif containing B1
IDBP-479790
IQ motif containing B1
IDBP-474669
IQ motif containing B1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. [provided by RefSeq, Nov 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:121769763-121835079
Strand Reverse strand
Band q13.33
Transcripts
ENST00000310864 ENSP00000311505
ENST00000349820 ENSP00000323756
ENST00000393650 ENSP00000377261
ENST00000460108 ENSP00000419168
ENST00000498104 ENSP00000417832
ENST00000462442 ENSP00000419376
ENST00000471726
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 196 experimentally validated interaction(s) in this database.
They are also associated with 142 interaction(s) predicted by orthology.
Experimentally validated
Total 196 [view]
Protein-Protein 196 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 142 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0019899 enzyme binding
Biological Process
GO:0042384 cilium assembly
GO:0045494 photoreceptor cell maintenance
GO:0048496 maintenance of organ identity
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0015630 microtubule cytoskeleton
GO:0032391 photoreceptor connecting cilium
GO:0045171 intercellular bridge
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000022837
View Gene Order
ENSBTAG00000013069
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.604110 Hs.644961
RefSeq NM_001023570 NM_001023571 XM_005247912 XM_005247913
HUGO
OMIM
CCDS CCDS33836 CCDS33837
HPRD 11049
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca