Rabbit Anti-IQCB1 Recombinant Antibody (EG1664) (CBMAB-EN1992-LY)

Name: Rabbit Anti-IQCB1 Recombinant Antibody (EG1664)
SKU: CBMAB-EN1992-LY
Rating: 5 (1 reviews)

See all IQCB1 antibodies

Compare Online Inquiry

Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Rabbit

Clone

EG1664

Application

WB: 1:500~1:1000 ELISA: 1:40000

Immunogen

The antibody was produced against synthesized peptide derived from internal of human IQCB1.

Specificity

Human, Mouse

Antibody Isotype

IgG

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

More Infomation

Target

Full Name

IQ motif containing B1

Introduction

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.

Entrez Gene ID

Human	9657
Mouse	320299

UniProt ID

Human	Q15051
Mouse	Q8BP00

Alternative Names

PIQ; NPHP5; SLSN5

Function

Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637).
Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655).

Biological Process

Cilium assemblyISS:UniProtKB
Maintenance of animal organ identityManual Assertion Based On ExperimentIMP:HGNC-UCL
Photoreceptor cell maintenanceManual Assertion Based On ExperimentIMP:HGNC-UCL

Cellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Localization to the centrosome depends on the interaction with CEP290/NPHP6.

Involvement in disease

Senior-Loken syndrome 5 (SLSN5):
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.
Leber congenital amaurosis 10 (LCA10):
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Wang, J., Li, S., Jiang, Y., Wang, Y., Ouyang, J., Yi, Z., ... & Zhang, Q. (2023). Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4. American Journal of Ophthalmology, 252, 188-204.

Kruczek, K., Qu, Z., Welby, E., Shimada, H., Hiriyanna, S., English, M. A., ... & Swaroop, A. (2022). In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells. Stem Cell Reports, 17(10), 2172-2186.

Ben, S., Zhu, Q., Chen, S., Li, S., Du, M., Xin, J., ... & Wang, M. (2021). Genetic variations in the CTLA-4 immune checkpoint pathway are associated with colon cancer risk, prognosis, and immune infiltration via regulation of IQCB1 expression. Archives of Toxicology, 95, 2053-2063.

Rishi, E., Goel, S., & Rishi, P. (2021). Senior-Loken syndrome secondary to IQCB1 mutation in association with retinitis pigmentosa. Canadian Journal of Ophthalmology, 56(4), e112-e114.

Yu, T., & Matsuda, M. (2020). Epb41l5 interacts with Iqcb1 and regulates ciliary function in zebrafish embryos. Journal of cell science, 133(12), jcs240648.

Chiu, H. H. C., Sucaldito, M. S. F. P., Maceda, E. B. G., Montemayor, J. A. S., & Tamondong-Lachica, D. R. (2020). Clinical features of Senior–Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man. Journal of Genetic Medicine, 17(1), 39-42.

Yu, P. H., Kuo, Y. R., Altmüller, J., & Hwang, D. Y. (2018). Senior-Løken syndrome with IQCB1 mutation in Taiwan. Kaohsiung journal of medical sciences, 34(10), 588-589.

Zahid, S., Branham, K., Schlegel, D., Pennesi, M. E., Michaelides, M., Heckenlively, J., ... & Jayasundera, T. (2018). IQCB1. Retinal Dystrophy Gene Atlas, 123-124.

Vincent, A., AlAli, A., MacDonald, H., VandenHoven, C., & Héon, E. (2018). Specific retinal phenotype in early IQCB1-related disease. Eye, 32(3), 646-651.

Li, S., Xi, Q., Zhang, X., Yu, D., Li, L., Jiang, Z., ... & Traboulsi, E. I. (2018). Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. Molecular Genetics and Genomics, 293, 699-710.

Ask a question We look forward to hearing from you.

0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Have you used Rabbit Anti-IQCB1 Recombinant Antibody (EG1664)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon

$30 eGift Card
Submit a review

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

Online Inquiry

Request bulk or custom quote Second antibody and isotype control

Contact us

Tel: (USA)
(UK)
Fax:

Global Locations

Email:

Online Inquiry