NME5

NME/NM23 family member 5

Ensembl:
ENSG00000112981
UniProt:
P56597
OMIM:
603575
Synonyms:
NM23-H5, RSPH23

Cilia effects upon perturbation of NME5

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.77) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.74) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
ciliary dyskinesia, primary, 48, without situs inversus

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm

Function

Hydrocephalus and infertility due to dysfunctio l motile cilia in KO mouse (21746835). Role in ciliary beating (24424412). Mutations cause of human PCD (32185794).

Model organism evidence

Danio rerio (1 reference)

A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.

PMIDs: 32185794