Identity
HGNC
LOCATION
3q13.33
LOCUSID
ALIAS
NPHP5,PIQ,SLSN5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9657
MIM: 609237
HGNC: 28949
Ensembl: ENSG00000173226
Variants:
dbSNP: 9657
ClinVar: 9657
TCGA: ENSG00000173226
COSMIC: IQCB1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Anchoring of the basal body to the plasma membrane | REACTOME | R-HSA-5620912 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33512896 | 2021 | SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis. | 2 |
| 33847778 | 2021 | Genetic variations in the CTLA-4 immune checkpoint pathway are associated with colon cancer risk, prognosis, and immune infiltration via regulation of IQCB1 expression. | 4 |
| 33512896 | 2021 | SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis. | 2 |
| 33847778 | 2021 | Genetic variations in the CTLA-4 immune checkpoint pathway are associated with colon cancer risk, prognosis, and immune infiltration via regulation of IQCB1 expression. | 4 |
| 31177295 | 2020 | Requirement of NPHP5 in the hierarchical assembly of basal feet associated with basal bodies of primary cilia. | 4 |
| 31177295 | 2020 | Requirement of NPHP5 in the hierarchical assembly of basal feet associated with basal bodies of primary cilia. | 4 |
| 31212307 | 2019 | Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence. | 15 |
| 31212307 | 2019 | Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence. | 15 |
| 29322253 | 2018 | Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. | 6 |
| 29322253 | 2018 | Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. | 6 |
| 28498859 | 2017 | USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesis. | 19 |
| 28498859 | 2017 | USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesis. | 19 |
| 27328943 | 2016 | Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. | 26 |
| 27506978 | 2016 | Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. | 30 |
| 27328943 | 2016 | Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. | 26 |
Citation
Dessen P
IQCB1 (IQ motif containing B1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64645/iqcb1-(iq-motif-containing-b1)
