Format

Send to:

Choose Destination

SLC1A1 solute carrier family 1 member 1 [ Homo sapiens (human) ]

Gene ID: 6505, updated on 9-Aug-2021

Summary

Official Symbol
SLC1A1provided by HGNC
Official Full Name
solute carrier family 1 member 1provided by HGNC
Primary source
HGNC:HGNC:10939
See related
Ensembl:ENSG00000106688 MIM:133550
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DCBXA; EAAC1; EAAT3; SCZD18
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]
Expression
Biased expression in small intestine (RPKM 11.7), kidney (RPKM 8.4) and 12 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SLC1A1 in Genome Data Viewer
Location:
9p24.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (4490466..4587469)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (4490468..4587469)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3538 Neighboring gene RNA, U6 small nuclear 694, pseudogene Neighboring gene spermatogenesis associated 6 like Neighboring gene ribosomal protein S6 pseudogene 11 Neighboring gene phospholipid phosphatase 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dicarboxylic aminoaciduria
MedGen: C1857253 OMIM: 222730 GeneReviews: Not available
Compare labs
Genetics of coronary artery calcification among African Americans, a meta-analysis.
GeneReviews: Not available
Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
GeneReviews: Not available
Schizophrenia 18
MedGen: C3808913 OMIM: 615232 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in D-aspartate import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in D-aspartate import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in D-aspartate transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in L-aspartate import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in L-aspartate transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in L-aspartate transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in L-glutamate import IDA
Inferred from Direct Assay
more info
PubMed 
involved_in L-glutamate import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in L-glutamate import across plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in L-glutamate transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in activation of protein kinase B activity IEA
Inferred from Electronic Annotation
more info
 
involved_in adult behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within blood vessel morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to ammonium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to cocaine IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to mercury ion IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular response to organic cyclic compound IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular zinc ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in conditioned place preference IEA
Inferred from Electronic Annotation
more info
 
involved_in cysteine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cysteine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cytokine-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in glutamate homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in glutamate receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in glutathione biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in grooming behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in heart contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in ion transport TAS
Traceable Author Statement
more info
 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within maintenance of blood-brain barrier ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in memory IEA
Inferred from Electronic Annotation
more info
 
involved_in motor behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in motor neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in neurogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuron death in response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neurotransmitter receptor transport to plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter transport TAS
Traceable Author Statement
more info
 
involved_in peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of heart rate IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein targeting to membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in response to amphetamine IEA
Inferred from Electronic Annotation
more info
 
involved_in response to anesthetic IEA
Inferred from Electronic Annotation
more info
 
involved_in response to axon injury IEA
Inferred from Electronic Annotation
more info
 
involved_in response to decreased oxygen levels IEA
Inferred from Electronic Annotation
more info
 
involved_in response to morphine IEA
Inferred from Electronic Annotation
more info
 
involved_in retina layer formation IEA
Inferred from Electronic Annotation
more info
 
involved_in righting reflex IEA
Inferred from Electronic Annotation
more info
 
involved_in superoxide metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse organization IEA
Inferred from Electronic Annotation
more info
 
involved_in transepithelial transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transport across blood-brain barrier ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
involved_in zinc ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in asymmetric synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axon terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell periphery ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendritic shaft ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in distal dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in glial cell projection ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane IGC
Inferred from Genomic Context
more info
PubMed 
located_in integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perikaryon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perisynaptic space ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in presynapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in proximal dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic cleft ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
excitatory amino acid transporter 3
Names
excitatory amino acid carrier 1
neuronal and epithelial glutamate transporter
sodium-dependent glutamate/aspartate transporter 3
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017044.1 RefSeqGene

    Range
    5042..102043
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004170.6NP_004161.4  excitatory amino acid transporter 3

    See identical proteins and their annotated locations for NP_004161.4

    Status: REVIEWED

    Source sequence(s)
    AB008536, BQ008494, BQ029108, DA643262, U03506
    Consensus CDS
    CCDS6452.1
    UniProtKB/Swiss-Prot
    P43005
    Related
    ENSP00000262352.3, ENST00000262352.8
    Conserved Domains (1) summary
    pfam00375
    Location:21465
    SDF; Sodium:dicarboxylate symporter family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    4490466..4587469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015043.1XP_016870532.1  excitatory amino acid transporter 3 isoform X5

  2. XM_011518007.1XP_011516309.1  excitatory amino acid transporter 3 isoform X1

    Conserved Domains (1) summary
    pfam00375
    Location:74488
    SDF; Sodium:dicarboxylate symporter family
  3. XM_017015042.1XP_016870531.1  excitatory amino acid transporter 3 isoform X3

  4. XM_011518010.1XP_011516312.1  excitatory amino acid transporter 3 isoform X6

    Conserved Domains (1) summary
    pfam00375
    Location:40418
    SDF; Sodium:dicarboxylate symporter family
  5. XM_011518008.3XP_011516310.1  excitatory amino acid transporter 3 isoform X2

    Conserved Domains (1) summary
    pfam00375
    Location:54468
    SDF; Sodium:dicarboxylate symporter family
  6. XM_011518009.3XP_011516311.1  excitatory amino acid transporter 3 isoform X4

    Conserved Domains (1) summary
    pfam00375
    Location:31445
    SDF; Sodium:dicarboxylate symporter family
Support Center