HVCN1

hydrogen voltage gated channel 1

Ensembl:
ENSG00000122986
UniProt:
Q96D96
OMIM:
611227
Synonyms:
HV1, MGC15619, VSOP

Cilia effects upon perturbation of HVCN1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585

Phenotypes

Human ciliopathy phenotype:
Joubert syndrome; Meckel syndrome

Subcellular localization

flagella

Functional category

  • Reproduction & sperm
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Hv1 is confined to the principal piece of the sperm flagellum, where it is expressed at unusually high density (20144758).