NSL1

NSL1 component of MIS12 kinetochore complex

Ensembl:
ENSG00000117697
UniProt:
Q96IY1
OMIM:
609174
Synonyms:
C1ORF48, DC8, DKFZP566O1646, MIS14

Cilia effects upon perturbation of NSL1

Cilia number / % ciliated:
Unknown
Loss-of-function effect:
Supernumerary cilia
Overexpression effect:
Unknown

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-19.74) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Basu et al. 2023 (siRNA) [siRNA]: Left-Right Asymmetry Candidate (Z2MCilia=0.03) PMID:37771269

Phenotypes

Mouse phenotype:
decreased leukocyte cell number, preweaning lethality, complete penetrance, increased grip strength, embryonic lethality prior to organogenesis
Mouse ciliopathy phenotype:
decreased circulating calcium level

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation

Function

Loss of NSL1 gene cause supernumerary cilia(PMID: 37771269).