- IQCB1
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IQ motif containing B1 Identifiers Symbols IQCB1; NPHP5; PIQ; SLSN5 External IDs OMIM: 609237 MGI: 2443764 HomoloGene: 8766 GeneCards: IQCB1 Gene Gene Ontology Molecular function • calmodulin binding Cellular component • photoreceptor outer segment
• centrosome
• photoreceptor connecting ciliumBiological process • photoreceptor cell maintenance
• maintenance of organ identitySources: Amigo / QuickGO RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 9657 320299 Ensembl ENSG00000173226 ENSMUSG00000022837 UniProt Q15051 Q8BP00 RefSeq (mRNA) NM_001023570.2 NM_177128.4 RefSeq (protein) NP_001018864.2 NP_796102.2 Location (UCSC) Chr 3:
121.49 – 121.55 MbChr 16:
36.83 – 36.87 MbPubMed search [1] [2] IQ calmodulin-binding motif-containing protein 1 is a protein that in humans is encoded by the IQCB1 gene.[1][2]
References
- ^ Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F (Feb 2005). "Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin". Nat Genet 37 (3): 282–8. doi:10.1038/ng1520. PMID 15723066.
- ^ "Entrez Gene: IQCB1 IQ motif containing B1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9657.
Further reading
- Nomura N, Miyajima N, Sazuka T, et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.". DNA Res. 1 (1): 27–35. doi:10.1093/dnares/1.1.27. PMID 7584026.
- Nomura N, Miyajima N, Sazuka T, et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement).". DNA Res. 1 (1): 47–56. doi:10.1093/dnares/1.1.47. PMID 7584028.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Mollet G, Salomon R, Gribouval O, et al. (2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.". Nat. Genet. 32 (2): 300–5. doi:10.1038/ng996. PMID 12244321.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Mollet G, Silbermann F, Delous M, et al. (2005). "Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.". Hum. Mol. Genet. 14 (5): 645–56. doi:10.1093/hmg/ddi061. PMID 15661758.
- le Maire A, Weber T, Saunier S, et al. (2006). "Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.". Proteins 59 (2): 347–55. doi:10.1002/prot.20344. PMID 15723349.
- Luo X, He Q, Huang Y, Sheikh MS (2006). "Cloning and characterization of a p53 and DNA damage down-regulated gene PIQ that codes for a novel calmodulin-binding IQ motif protein and is up-regulated in gastrointestinal cancers.". Cancer Res. 65 (23): 10725–33. doi:10.1158/0008-5472.CAN-05-1132. PMID 16322217.
Nephrocystin Basal body Cilia Dynein Radial spokes RSPH1 · RSPH3 · RSPH4A · RSPH6A · RSPH9 · RSPH10BOther Categories:- Human proteins
- Chromosome 3 gene stubs
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