IQCB1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | IQCB1 |
| Official Name | IQ motif containing B1 [Source:HGNC Symbol;Acc:HGNC:28949] |
| Ensembl ID | ENSG00000173226 |
| Bio databases IDs | |
| Aliases | IQ motif containing B1, nephrocystin-5 |
| Synonyms | 6820449I09RIK, AV128382, IQ calmodulin-binding motif containing 1, IQCB1 isoform 1, IQ motif containing B1, KIAA0036, NPHP5, PIQ, SLSN5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IQCB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Calmodulin-binding motif
- IQ (isoleucine-glutamine) motif containing G and D (IQCG and IQCD)
- binding protein
- calmodulin binding
- protein binding activity, bridging
- enzyme binding
- protein binding
- IQ calmodulin-binding motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic lupus erythematosus
- nephronophthisis
- hereditary disorder
- retinal dystrophy
- Senior-Loken syndrome 5
- multiple sclerosis
- renal dysplasia and retinal aplasia
- ciliopathy
- retinitis pigmentosa
- Leber congenital amaurosis type 1
regulates
- BBC3
- BBSome
role in cell
- assembly
- maintenance
- diameter
- development
- development in
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- ciliary membrane
- microtubule cytoskeleton
- basal bodies
- centrosome
- cytoplasmic bridges
- cytosol
- connecting cilia
- nucleoplasm
- photoreceptor outer segments
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IQCB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- maintenance of organ identity
- cilium morphogenesis
- photoreceptor cell maintenance
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- intercellular bridge
- centrosome
- microtubule cytoskeleton
- extracellular vesicular exosome
- mitotic spindle
- centriole
- cilium
- cytosol
- photoreceptor outer segment
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- calmodulin binding
- protein binding
- protein binding, bridging
- enzyme binding