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

Gene ID: 6512, updated on 25-Nov-2021

Summary

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
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
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

See SLC1A7 in Genome Data Viewer
Location:
1p32.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (53087183..53142638, complement)
105.20201022 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 HIG1 hypoxia inducible domain family member 1A pseudogene 11 Neighboring gene podocan Neighboring gene Sharpr-MPRA regulatory region 13647 Neighboring gene VISTA enhancer hs2585 Neighboring gene uncharacterized LOC105378724 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

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
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
GeneReviews: Not available
Multiple loci influencing hippocampal degeneration identified by genome scan.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36602

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in L-glutamate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in dicarboxylic acid transport TAS
Traceable Author Statement
more info
PubMed 
involved_in ion transport TAS
Traceable Author Statement
more info
 
involved_in neurotransmitter reuptake IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neurotransmitter transport TAS
Traceable Author Statement
more info
 
involved_in neurotransmitter uptake IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neutral amino acid transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001287595.2NP_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, F1T0D3, G1CT06
    Related
    ENSP00000478639.1, ENST00000620347.5
    Conserved Domains (1) summary
    pfam00375
    Location:19535
    SDF; Sodium:dicarboxylate symporter family
  2. NM_001287596.2NP_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/Swiss-Prot
    O00341
    UniProtKB/TrEMBL
    F1T0D3
    Related
    ENSP00000360546.4, ENST00000371491.4
    Conserved Domains (1) summary
    cl00573
    Location:19144
    SDF; Sodium:dicarboxylate symporter family
  3. NM_001287597.2NP_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/Swiss-Prot
    O00341
    UniProtKB/TrEMBL
    F1T0D3, F1T0D4
    Related
    ENSP00000484987.1, ENST00000611397.5
    Conserved Domains (1) summary
    pfam00375
    Location:19404
    SDF; Sodium:dicarboxylate symporter family
  4. NM_006671.6NP_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
    UniProtKB/TrEMBL
    F1T0D3
    Related
    ENSP00000360549.5, ENST00000371494.9
    Conserved Domains (1) summary
    pfam00375
    Location:19476
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011542002.2XP_011540304.1  excitatory amino acid transporter 5 isoform X1

    See identical proteins and their annotated locations for XP_011540304.1

    Conserved Domains (1) summary
    pfam00375
    Location:11253
    SDF; Sodium:dicarboxylate symporter family
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