NUP93
nucleoporin 93
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000102900
- UniProt:
- Q8N1F7
- OMIM:
- 614351
- Synonyms:
- KIAA0095
Cilia effects upon perturbation of NUP93
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Loss of cilia
Ciliogenesis screen results (4 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-24.89) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.27, ciliated=20.3%) PMID:26595381
Phenotypes
- Mouse phenotype:
- embryonic lethality prior to organogenesis
Subcellular localization
nucleus, transition zone
References: PMID:22388888, PMID:33065118
Functional category
- Ciliary assembly/disassembly
- Metabolism
- Viral interactions
- Signaling (Hedgehog, GPCRs, ion channels)
- Transition zone
- Transcription regulation
Function
Inner ring nucleoporin, component of ciliary pore complex that regulares protein transport into cilia (22388888). Involved in proper left-right patterning in developing embryos (33065118).