UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:EAAC1
HGNC Symbol:SLC1A1
HGNC Description:solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
HGNC ID:10939
Chromosome:Chr.9(+): 4480444-4577469
Location:9p24
OMIM:133550
OMIM Phenotype:None
Accessions:NM_004170
Nucleotide RefSeq:NM_004170
Protein RefSeq:NP_004161
Entrez:6505
Isoforms:1
Evidence:Substrate In Vitro Evidence: 1. L-Glu, D/L Asp Substrate In Vivo Evidence: 1. Knockout mice develop dicarboxylic aminoaciduria Peghini P et al, EMBO Journal, 1997: 3822-3832 Tissue Distribution Evidence: 1. Brain (hippocampus, cerebral cortex, olfactory bulb, striatum, superior colliculus and thalamus), small intestine, kidney, liver and heart, RT-PCR, Kanai Y et al, Nature 1992: 467-71
Tissues:brain, small intestine, liver, kidney, liver, heart
Type:protein coding
Sets:V
PharmGKB ID:PA35826
HPRD ID:00597
Substrates:L-Glu, D/L Asp
Trivial Names:EAAC1, EAAT3
Transcripts:NM_004170 [Chr.9(+): 4480444-4577469]

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.