AQP1

aquaporin 1 (Colton blood group)

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000240583
UniProt:
P29972
OMIM:
107776
Synonyms:
CHIP28, CO

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.10) 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=-2.35) PMID:41160700

Phenotypes

Mouse phenotype:
decreased locomotor activity, increased circulating total protein level, decreased grip strength, decreased exploration in new environment, increased circulating alkaline phosphatase level, decreased circulating chloride level, increased circulating hdl cholesterol level, decreased total body fat amount, increased neutrophil cell number, increased circulating cholesterol level, decreased bone mineral content, increased lean body mass, increased circulating amylase level, impaired glucose tolerance, decreased bone mineral density

Subcellular localization

cilia, nucleus

References: PMID:12002438

Functional category

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

Function

In the efferent ducts, AQP-1 was expressed on the microvilli, basolateral plasma membranes, and apical endosomes of the nonciliated cells and cilia of ciliated cells (12002438).