SLC6A1

solute carrier family 6 member 1

Ensembl:
ENSG00000157103
UniProt:
P30531
OMIM:
137165
Synonyms:
GABATHG, GABATR, GAT-1, GAT1, HGAT-1

Cilia effects upon perturbation of SLC6A1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-11.66) 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:
epilepsy with myoclonic atonic seizures

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly

Function

SLC6A1, a key GABA transporter, localized to cilia in control cells (PMID: 40623838).