Molecular weight (DA)
69kD
Immunogen
The antiserum was produced against synthesized peptide derived from human IQCB1. AA range:431-480
Specificity
Nephrocystin-5 Polyclonal Antibody detects endogenous levels of Nephrocystin-5 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB: 1/500 - 1/2000. IHC: 1/100 - 1/300. ELISA: 1/40000.. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
disease:Defects in IQCB1 are the cause of Senior-Loken syndrome type 5 (SLSN5) [MIM:609254]. SLSN is 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.,similarity:Contains 4 IQ domains.,subunit:Interacts with calmodulin.,tissue specificity:Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells.,
Protein name
IQ calmodulin-binding motif-containing protein 1
Abbreviation
Nephrocystin-5
Other name
IQCB1; KIAA0036; NPHP5; OK/SW-cl.85; IQ calmodulin-binding motif-containing protein 1; Nephrocystin-5; p53 and DNA damage-regulated IQ motif protein; PIQ
Human protein sequence Database
Q15051
Mouse protein sequence database
Q8BP00
Rat protein sequence database
Cellular localization
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole . Localization to the centrosome depends on the interaction with CEP290/NPHP6.
Tissue expression
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.
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