SESN1
sestrin 1
- Ensembl:
- ENSG00000080546
- UniProt:
- Q9Y6P5
- OMIM:
- 606103
- Synonyms:
- PA26, SEST1
Cilia effects upon perturbation of SESN1
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.94) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- increased mean corpuscular hemoglobin, increased aggression, abnormal optic disk morphology, increased mean corpuscular volume
- Mouse ciliopathy phenotype:
- persistence of hyaloid vascular system
Subcellular localization
cilia associated gene, nucleus
Functional category
- Ciliary assembly/disassembly
Function
Mutations in the SESN1 gene cause Visceral Heterotaxy (PMID: 12607115).