NHERF1

NHERF family PDZ scaffold protein 1

Tier: Gold Standard Ciliary Genes

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

References: PMID:41005307, PMID:27055101

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 signaling PCP signaling and the development of functional motile cilia via binding the planar 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).

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