InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IQCB1

Summary

InnateDB Protein

IDBP-243177.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IQCB1

Protein Name

IQ motif containing B1

Synonyms

NPHP5; PIQ; SLSN5;

Species

Homo sapiens

Ensembl Protein

ENSP00000377261

InnateDB Gene

IDBG-52140 (IQCB1)

Protein Structure

UniProt Annotation

Function

Involved in ciliogenesis. {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:21565611}. Note=Localization to the centrosome depends on the interaction with CEP290.

Disease Associations

Senior-Loken syndrome 5 (SLSN5) [MIM:609254]: 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. {ECO:0000269PubMed:15723066}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors. {ECO:0000269PubMed:15723066, ECO:0000269PubMed:16322217}.

Comments

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:0005634	nucleus
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0015630	microtubule cytoskeleton
GO:0032391	photoreceptor connecting cilium
GO:0045171	intercellular bridge