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

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; 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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Multiple loci influencing hippocampal degeneration identified by genome scan. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

RH94229 (e-PCR)
- UniSTS:84777

G35927 (e-PCR)
- UniSTS:52549

SLC1A7_1966 (e-PCR)
- UniSTS:281006

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)

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
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
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
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

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