IQ Motif-Containing Protein B1

Alternative Names

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

609237

NCBI Gene ID

9657

Uniprot ID

Q15051

Length

65,319 bases

No. of Exons

16

No. of isoforms

3

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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001023570.3:c.1479C>ASaudi Arabiachr3:121772645PathogenicLeber Congenital Amaurosis 1NG_015887.1:g.67434A>G; NM_001023570.3:c.1479C>A; NP_001018864.2:p.Tyr493Ter1395016609
NM_001023570.4:c.1130-1G>CSaudi Arabiachr3:121788433PathogenicLeber Congenital Amaurosis 1NG_015887.1:g.51647G>C; NM_001023570.4:c.1130-1G>C
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