DISEASES

Disease-gene associations mined from literature

Literature associating SLC1A1 and episodic ataxia type 6

SLC1A1 [ENSP00000262352]

Sodium-dependent glutamate/aspartate transporter 3; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Can also transport L-cysteine. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport. Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli. Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity). Negatively regulated by ARL6IP5 (By similarity); Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A1 subfamily.

Synonyms:  SLC1A1,  SLC1A1p,  hSLC1A1,  P43005,  SLC1A1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM