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
335128962021SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.2
338477782021Genetic variations in the CTLA-4 immune checkpoint pathway are associated with colon cancer risk, prognosis, and immune infiltration via regulation of IQCB1 expression.4
335128962021SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.2
338477782021Genetic variations in the CTLA-4 immune checkpoint pathway are associated with colon cancer risk, prognosis, and immune infiltration via regulation of IQCB1 expression.4
311772952020Requirement of NPHP5 in the hierarchical assembly of basal feet associated with basal bodies of primary cilia.4
311772952020Requirement of NPHP5 in the hierarchical assembly of basal feet associated with basal bodies of primary cilia.4
312123072019Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.15
312123072019Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence.15
293222532018Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.6
293222532018Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.6
284988592017USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesis.19
284988592017USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesis.19
273289432016Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.26
275069782016Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.30
273289432016Ciliopathy-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/gene-explorer/favicon/manifest.json