ESR1

estrogen receptor 1

Ensembl:
ENSG00000091831
UniProt:
P03372
OMIM:
133430
Synonyms:
ER, ER-ALPHA, ERA, ESR, NR3A1

Cilia effects upon perturbation of ESR1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Longer cilia

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.67) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=4.25) PMID:20393562

Phenotypes

Human ciliopathy phenotype:
polycystic ovary syndrome; hypogonadism; infertility

Subcellular localization

cilia, nucleoplasm, vesicles

Functional category

  • Motile cilium & axoneme; Signaling (Hedgehog, GPCRs, ion channels); Ciliary assembly/disassembly

Function

ESR1 expression in ciliated cells of the oviduct is dispensable for ciliogenesis and nonessential for female fertility in mice(PMID: 37942801). The ciliary length at the infundibulum, measured from the oviductal tissues stained with Ac α-tubulin, was significantly longer in the Wnt7aCre/+;Esr1f/f compared with the Esr1f/f oviducts (Fig. 2I). The ciliary length in the ampulla region had a tendency to be longer in Wnt7aCre/+;Esr1f/f, but it was not significantly different from the length in Esr1f/f oviducts. These findings suggest that selective ablation of Esr1 in the oviductal epithelial cells does not affect epithelial cell proliferation but alters the length of the cilia in the oviduct. A lack of ESR1 in the oviductal epithelial cells results in an increase in the ciliary length, which alters ciliary beat function; thus, such a condition may be an explanation for the cause of defective embryo transport(PMID: 28082352). Cilia were reduced in number in mutant(PMID: 10670526).