NUP62

nucleoporin 62

Ensembl:
ENSG00000213024
UniProt:
P37198
OMIM:
605815
Synonyms:
DKFZP547L134, FLJ20822, FLJ43869, IBSN, MGC841

Cilia effects upon perturbation of NUP62

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.41) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased bone mineral content, decreased total reti thickness, preweaning lethality, complete penetrance, abnormal reti inner nuclear layer morphology, decreased total body fat amount

Subcellular localization

nucleus, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Metabolism
  • T cell biology
  • Viral interactions
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone
  • Transcription regulation

Function

Central chanel nucleoporin, component of ciliary pore complex that regulares protein transport into cilia (22388888). Involved in active transport of cytosolic proteins into both ciliary and nuclear compartments (25264252).