HK1

hexokinase 1

Ensembl:
ENSG00000156515
UniProt:
P19367
OMIM:
142600

Cilia effects upon perturbation of HK1

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.48) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa

Subcellular localization

cilia associated gene, cytosol

Functional category

  • Ciliary assembly/disassembly
  • Metabolism

Function

Mutations in the HK1 gene cause Retinitis Pigmentosa (PMID: 25316723).

Model organism evidence

Mus musculus (1 reference)

We have characterized novel proteins that have their expression controlled by PAIP2A; of these, 50% are involved in flagellar structure and sperm motility.

PMIDs: 22190698