IQCB1

IQCB1
Identifiers
Aliases	IQCB1, NPHP5, PIQ, SLSN5, IQ motif containing B1
External IDs	OMIM: 609237; MGI: 2443764; GeneCards: IQCB1
Gene location (Human)
Chr.	Chromosome 3 (human)
End	121,835,079 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	36,693,083 bp
RNA expression pattern
	Top expressed in
	oocyte; ; epithelium of nasopharynx; ; testicle; ; monocyte; ; ventricular zone; ; body of pancreas; ; Achilles tendon; ; olfactory zone of nasal mucosa; ; rectum; ; bronchial epithelial cell;
	Top expressed in
	neural layer of retina; ; genital tubercle; ; hand; ; zygote; ; spermatocyte; ; tail of embryo; ; dentate gyrus of hippocampal formation granule cell; ; neural tube; ; ventricular zone; ; secondary oocyte;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	enzyme binding; protein binding; calmodulin binding;
Cellular component	cytoplasm; microtubule organizing center; cytosol; centrosome; photoreceptor outer segment; extracellular exosome; cytoskeleton; photoreceptor connecting cilium; centriole; nucleoplasm; microtubule cytoskeleton; intercellular bridge; mitotic spindle;
Biological process	photoreceptor cell maintenance; maintenance of animal organ identity; cell projection organization; cilium assembly; ciliary basal body-plasma membrane docking;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	9657
	320299
	ENSG00000173226
	ENSMUSG00000022837
	Q15051
	Q8BP00
	NM_001023570; NM_001023571; NM_001319107; NM_014642
	NM_177128
	NP_001018864; NP_001018865; NP_001306036
	NP_796102
	Wikidata
View/Edit Human	View/Edit Mouse

IQ calmodulin-binding motif-containing protein 1 is a protein that in humans is encoded by the IQCB1 gene. This protein is involved in early cilia formation.

Medical significance

Pathogenic mutations in IQCB1 are associated with a form of retinal dystrophy and blindness called Leber congenital amaurosis-10 (LCA10). Some people with pathogenic mutations not only have the symptoms of Leber congenital amaurosis, but also have nephronophthisis (kidney cysts/scarring), called Senior-Loken syndrome-5 (SLSN5)

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000173226 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022837 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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. S2CID 4972004.
↑ "Entrez Gene: IQCB1 IQ motif containing B1".
↑ "IQ calmodulin-binding motif-containing protein 1". UniProt consortium. Retrieved 2026-10-08.
↑ "LEBER CONGENITAL AMAUROSIS 10; LCA10". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-10-08.
↑ "SENIOR-LOKEN SYNDROME 5; SLSN5". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-10-08.

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. S2CID 24216974.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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.
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. S2CID 37333782.
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.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000173226 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022837 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15723066-5] 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. S2CID 4972004.

[entrez-6] "Entrez Gene: IQCB1 IQ motif containing B1".

[7] "IQ calmodulin-binding motif-containing protein 1". UniProt consortium. Retrieved 2026-10-08.

[8] "LEBER CONGENITAL AMAUROSIS 10; LCA10". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-10-08.

[9] "SENIOR-LOKEN SYNDROME 5; SLSN5". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-10-08.

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBSome BBS1 BBS2 BBS4 BBS5 BBS7 BBS8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 DNAAF1 INPP5E KIF3A SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

IQCB1

Medical significance

References

Further reading