Gene
iqcb1
- ID
- ZDB-GENE-041212-47
- Name
- IQ motif containing B1
- Symbol
- iqcb1 Nomenclature History
- Previous Names
-
- nphp5 (1)
- zgc:101792
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable calmodulin binding activity. Acts upstream of or within opsin transport and pronephros development. Predicted to be active in cilium. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Senior-Loken syndrome; nephronophthisis; and retinitis pigmentosa 3. Orthologous to human IQCB1 (IQ motif containing B1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7146634 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-iqcb1 | N/A | Tobin et al., 2008 |
| MO2-iqcb1 | N/A | Tobin et al., 2008 |
| MO3-iqcb1 | N/A | (4) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Senior-Loken syndrome | Alliance | Senior-Loken syndrome 5 | 609254 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | IQ calmodulin-binding motif-containing protein 1 | IQ motif, EF-hand binding site | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|
| UniProtKB:A8KC58 | InterPro | 295 | |||
| UniProtKB:Q5PRA5 | InterPro | 595 | |||
| UniProtKB:A0A8M9QFC9 | InterPro | 470 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-155D24 | ZFIN Curated Data | |
| Contained in | BAC | CH211-223I3 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-70D5 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7146634 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:101792 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174715 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001008622 (1) | 2588 nt | ||
| Genomic | GenBank:BX119909 (2) | 221755 nt | ||
| Polypeptide | UniProtKB:Q5PRA5 (1) | 595 aa |
- Yu, T., Matsuda, M. (2020) Epb41l5 interacts with IQCB1 and regulates ciliary function in zebrafish embryos. Journal of Cell Science. 133(12):
- Zhao, C., and Malicki, J. (2011) Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos. The EMBO journal. 30(13):2532-2544
- Gerner, M., Haribaskar, R., Pütz, M., Czerwitzki, J., Walz, G., and Schäfer, T. (2010) The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network. Kidney International. 77(10):891-896
- Tiefenbach, J., Moll, P.R., Nelson, M.R., Hu, C., Baev, L., Kislinger, T., and Krause, H.M. (2010) A live zebrafish-based screening system for human nuclear receptor ligand and cofactor discovery. PLoS One. 5(3):e9797
- Schäfer, T., Pütz, M., Lienkamp, S., Ganner, A., Bergbreiter, A., Ramachandran, H., Gieloff, V., Gerner, M., Mattonet, C., Czarnecki, P.G., Sayer, J.A., Otto, E.A., Hildebrandt, F., Kramer-Zucker, A., and Walz, G. (2008) Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Human molecular genetics. 17(23):3655-3662
- Tobin, J.L., and Beales, P.L. (2008) Restoration of renal function in zebrafish models of ciliopathies. Pediatric nephrology (Berlin, Germany). 23(11):2095-2099
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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