IQCB1 (IQ motif containing B1)

2014-11-01  

Identity

HGNC
LOCATION
3q13.33
LOCUSID
ALIAS
NPHP5,PIQ,SLSN5
FUSION GENES

Other Information

Locus ID:

NCBI: 9657
MIM: 609237
HGNC: 28949
Ensembl: ENSG00000173226

Variants:

dbSNP: 9657
ClinVar: 9657
TCGA: ENSG00000173226
COSMIC: IQCB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173226ENST00000310864Q15051
ENSG00000173226ENST00000349820Q15051
ENSG00000173226ENST00000393650Q15051
ENSG00000173226ENST00000460108C9JXD7
ENSG00000173226ENST00000462442C9JVC4
ENSG00000173226ENST00000498104C9J6Z7

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
157230662005Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.152
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
212450822011Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.60
208812962011IQCB1 mutations in patients with leber congenital amaurosis.51
218579842011Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.38
234466372013Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.32
255526552015Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.30
212206332011Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.29
219017892011Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.25
275069782016Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.21

Citation

Dessen P

IQCB1 (IQ motif containing B1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64645/iqcb1