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SLC1A7 solute carrier family 1 member 7 [ Homo sapiens (human) ]

Gene ID: 6512, updated on 2-Nov-2024

Summary

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Official Symbol
SLC1A7provided by HGNC
Official Full Name
solute carrier family 1 member 7provided by HGNC
Primary source
HGNC:HGNC:10945
See related
Ensembl:ENSG00000162383 MIM:604471; AllianceGenome:HGNC:10945
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAAT; EAAT5
Summary
Enables glutamate:sodium symporter activity. Involved in neurotransmitter uptake. Predicted to be located in photoreceptor cell terminal bouton. Predicted to be active in glutamatergic synapse; postsynaptic membrane; and presynaptic membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in gall bladder (RPKM 2.6), small intestine (RPKM 2.2) and 17 other tissues See more
Orthologs
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Genomic context

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See SLC1A7 in Genome Data Viewer
Location:
1p32.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (53087183..53142638, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (52968685..53024057, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53552855..53608310, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene sterol carrier protein 2 Neighboring gene tubulin beta class I pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1040 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:53527863-53528050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53546830-53547381 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53547382-53547932 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 11 Neighboring gene podocan Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53560558-53561095 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:53571119-53571620 and GRCh37_chr1:53571621-53572120 Neighboring gene Sharpr-MPRA regulatory region 13647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53576791-53577515 Neighboring gene uncharacterized LOC105379783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53580852-53581834 Neighboring gene VISTA enhancer hs2585 Neighboring gene uncharacterized LOC105378724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 902 Neighboring gene MPRA-validated peak232 silencer Neighboring gene carnitine palmitoyltransferase 2 pseudogene 1 Neighboring gene carnitine palmitoyltransferase 2 Neighboring gene CXXC motif containing zinc binding protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Human brain neurons express a novel splice variant of excitatory amino acid transporter 5 (hEAAT5v). Lee A, et al. J Comp Neurol, 2020 Dec 1. PMID 32173860
  2. Excitatory amino acid transporter 5, a retinal glutamate transporter coupled to a chloride conductance. Arriza JL, et al. Proc Natl Acad Sci U S A, 1997 Apr 15. PMID 9108121, Free PMC Article
  3. Regulation of the excitatory amino acid transporter EAAT5 by the serum and glucocorticoid dependent kinases SGK1 and SGK3. Boehmer C, et al. Biochem Biophys Res Commun, 2005 Apr 8. PMID 15737648
  4. Multiple loci influencing hippocampal degeneration identified by genome scan. Melville SA, et al. Ann Neurol, 2012 Jul. PMID 22745009, Free PMC Article
  5. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. Chung SA, et al. PLoS Genet, 2011 Mar. PMID 21408207, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human brain neurons express a novel splice variant of excitatory amino acid transporter 5 (hEAAT5v).
    Title: Human brain neurons express a novel splice variant of excitatory amino acid transporter 5 (hEAAT5v).
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
  4. In conclusion, the kinases SGK1 and SGK3 increase EAAT5 activity by increasing cell surface abundance of the carrier.
    Title: Regulation of the excitatory amino acid transporter EAAT5 by the serum and glucocorticoid dependent kinases SGK1 and SGK3.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
EBI GWAS Catalog
Multiple loci influencing hippocampal degeneration identified by genome scan.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of solute carrier family 1 (glutamate transporter), member 7 (SLC1A7) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ36602

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-glutamate transmembrane transporter activity TAS
Traceable Author Statement
more info
 PubMed 
enables extracellularly glutamate-gated chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables glutamate:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glutamate:sodium symporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables high-affinity L-glutamate transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables neutral L-amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in L-glutamate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in L-glutamate transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in chloride transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in dicarboxylic acid transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transport TAS
Traceable Author Statement
more info
  
involved_in neurotransmitter transport TAS
Traceable Author Statement
more info
  
involved_in neurotransmitter uptake IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neurotransmitter uptake IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neurotransmitter uptake NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in neutral amino acid transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
excitatory amino acid transporter 5
Names
excitatory amino acid transporter 5 (retinal glutamate transporter)
retinal glutamate transporter
solute carrier family 1 (glutamate transporter), member 7

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001287595.2 → NP_001274524.1  excitatory amino acid transporter 5 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB593060, AL445183, CD672672, JF917096
    Consensus CDS
    CCDS72797.1
    UniProtKB/TrEMBL
    A0A087WUF9, G1CT06
    Related
    ENSP00000478639.1, ENST00000620347.5
    Conserved Domains (1) summary
    pfam00375
    Location:19 → 535
    SDF; Sodium:dicarboxylate symporter family

  2. NM_001287596.2 → NP_001274525.1  excitatory amino acid transporter 5 isoform 2

    See identical proteins and their annotated locations for NP_001274525.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons and uses an alternate 3'-terminal exon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB593060, AL445183, BC000651
    Consensus CDS
    CCDS72798.1
    UniProtKB/TrEMBL
    F1T0D2
    Related
    ENSP00000360546.4, ENST00000371491.4
    Conserved Domains (1) summary
    cl00573
    Location:19 → 144
    SDF; Sodium:dicarboxylate symporter family

  3. NM_001287597.2 → NP_001274526.1  excitatory amino acid transporter 5 isoform 3

    See identical proteins and their annotated locations for NP_001274526.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AB593060, AB593061, AL445183, BC012119, CD672672
    Consensus CDS
    CCDS72796.1
    UniProtKB/TrEMBL
    F1T0D4
    Related
    ENSP00000484987.1, ENST00000611397.5
    Conserved Domains (1) summary
    pfam00375
    Location:19 → 404
    SDF; Sodium:dicarboxylate symporter family

  4. NM_006671.6 → NP_006662.3  excitatory amino acid transporter 5 isoform 4

    See identical proteins and their annotated locations for NP_006662.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AB593060, AL445183, BC012119, CD672672
    Consensus CDS
    CCDS574.1
    UniProtKB/Swiss-Prot
    O00341, Q5VVZ0, Q969Z8, Q9BW45
    UniProtKB/TrEMBL
    G1CT06
    Related
    ENSP00000360549.5, ENST00000371494.9
    Conserved Domains (1) summary
    pfam00375
    Location:19 → 476
    SDF; Sodium:dicarboxylate symporter family

RNA

  1. NR_109858.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB593060, AL445183, BC012119, CD672672
    Related
    ENST00000649098.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    53087183..53142638 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428531.1 → XP_047284487.1  excitatory amino acid transporter 5 isoform X1

  2. XM_011542002.3 → XP_011540304.1  excitatory amino acid transporter 5 isoform X2

    See identical proteins and their annotated locations for XP_011540304.1

    Conserved Domains (1) summary
    pfam00375
    Location:11 → 253
    SDF; Sodium:dicarboxylate symporter family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    52968685..53024057 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338397.1 → XP_054194372.1  excitatory amino acid transporter 5 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00341.2 GenPept UniProtKB/Swiss-Prot:O00341

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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