SLC6A1

solute carrier family 6 member 1

Tier: Gold Standard Ciliary Genes

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

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

References: PMID:40623838, PMID:39677731

Functional category

Ciliary assembly/disassembly

Function

SLC6A1, a key GABA transporter, localized to cilia in control cells (PMID: 40623838). Antibody staining in rat brain cells confirms ciliary localization of SLC6A1 (Kostyanovskaya et al., 2025, bioRxiv, PMID 39677731).

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