NHERF1

NHERF family PDZ scaffold protein 1

Ensembl:
ENSG00000109062
UniProt:
O14745
OMIM:
604990
Synonyms:
EBP50, NHE-RF, NHERF, NHERF-1, SLC9A3R1

Cilia effects upon perturbation of NHERF1

Cilia number / % ciliated:
Decreased cilia number

Phenotypes

Mouse phenotype:
decreased circulating iron level, increased basophil cell number, increased leukocyte cell number

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Also known as EBP50 or NHERF1. Regulates Wnt and PCP sig ling PCP sig ling and the development of functio l motile cilia via binding the pla r cell polarity genes Frizzled (Fzd) and Vangl. Knockdown in zebrafish embryos causes severe hydrocephalus. Ablation causes reduced number and altered orientation of the cilia but does not change the structural organization of the cilium (27055101).

Model organism evidence

Mus musculus (3 references)

LRP2 contributes to planar cell polarity-dependent coordination of motile cilia function.

The PDZ Protein Na+/H+ Exchanger Regulatory Factor-1 (NHERF1) Regulates Planar Cell Polarity and Motile Cilia Organization.

PMIDs: 36764939, 27055101, 25775275

Danio rerio (1 reference)

The PDZ Protein Na+/H+ Exchanger Regulatory Factor-1 (NHERF1) Regulates Planar Cell Polarity and Motile Cilia Organization.

PMIDs: 27055101