IQ Motif-Containing Protein B1

Alternative Names

IQCB1
Nephrocystin 5
NPHP5
p53- and DNA Damage-Regulated IQ Motif Protein
PIQ
KIAA0036

Length

65,319 bases

No. of Exons

No. of isoforms

Protein Name

IQ Calmodulin-Binding Motif-Containing Protein 1

Molecular Mass

68929 Da

Amino Acid Count

598

Genomic Location

chr3:121,769,760-121,835,078

Gene Map Locus

3q13.33

Description

The IQCB1 gene, also called NPHP5 encodes a protein called nephrocystin that is involved in ciliogenesis. The encoded protein is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. It has a central coiled-coil region and two calmodulin-binding IQ domains and interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein.

Defects in this protein are the cause of Senior-Loken syndrome 5 (SLSN5), characterized by nephronophthisis and retinal degeneration.

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001023570.3:c.1479C>A	Saudi Arabia	chr3:121772645		Pathogenic	Leber Congenital Amaurosis 1	NG_015887.1:g.67434A>G; NM_001023570.3:c.1479C>A; NP_001018864.2:p.Tyr493Ter	1395016609
NM_001023570.4:c.1130-1G>C	Saudi Arabia	chr3:121788433		Pathogenic	Leber Congenital Amaurosis 1	NG_015887.1:g.51647G>C; NM_001023570.4:c.1130-1G>C

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=IQCB1 https://ghr.nlm.nih.gov/gene/IQCB1

Contributors

Nada Assaf: 16.06.2016

Edit History

Sayeeda Hana: 20.07.2020
Sami Bizzari: 16.06.2016

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