Basic Information

Symbol
SLC1A1
RNA class
mRNA
Alias
Solute Carrier Family 1 Member 1 HEAAC1 EAAC1 EAAT3 Excitatory Amino Acid Transporter 3 Solute Carrier Family 1 (Neuronal/Epithelial High Affinity Glutamate Transporter, System Xag), Member 1 Sodium-Dependent Glutamate/Aspartate Transporter 3 Neuronal And Epithelial Glutamate Transporter Excitatory Amino Acid Carrier 1 Excitatory Amino-Acid Carrier 1 SCZD18 DCBXA
Location (GRCh38)
9:4490225-4587469
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004170.6
Sequence length
3698.0 nt
GC content
0.4394

Transcripts

ID Sequence Length GC content
NM_004170.6 NCBI
GCAAAACUACCGGGCUGGCAGGGCGGCGGGCGCGGUGCGCGAUCCCGGG… 3698 nt 0.4394
Summary

This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]

Forensic Context

A study in rats demonstrated that the SLC1A1 was significantly downregulated in left ventricular tissues from an ischemic cardiomyopathy model created via coronary artery ligation [Wang et al. DOI:10.1007/s12031-018-1066-6].