NUP93

nucleoporin 93

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
Mouse ciliopathy phenotype:
abnormal reti vasculature morphology

Subcellular localization

nucleus, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • T cell biology
  • 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).

Model organism evidence

Xenopus (2 references)

Ciliopathies affect a variety of tissues during development including the heart, kidneys, respiratory tract, and retina.

The transcription factor FOXJ1 is essential for the formation of motile cilia throughout the animal kingdom.

PMIDs: 33065118, 30279523

Mus musculus (1 reference)

The transcription factor FOXJ1 is essential for the formation of motile cilia throughout the animal kingdom.

PMIDs: 30279523