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