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SLC1A6 solute carrier family 1 member 6 [ Homo sapiens (human) ]

Gene ID: 6511, updated on 29-Mar-2020

Summary

Official Symbol
SLC1A6provided by HGNC
Official Full Name
solute carrier family 1 member 6provided by HGNC
Primary source
HGNC:HGNC:10944
See related
Ensembl:ENSG00000105143 MIM:600637
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
EAAT4
Expression
Biased expression in testis (RPKM 7.7), brain (RPKM 2.7) and 1 other tissue See more
Orthologs

Genomic context

See SLC1A6 in Genome Data Viewer
Location:
19p13.12
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (14950033..15010643, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15060845..15121455, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily A member 15 pseudogene Neighboring gene olfactory receptor family 7 subfamily C member 2 Neighboring gene Sharpr-MPRA regulatory region 13248 Neighboring gene coiled-coil domain containing 105 Neighboring gene caspase 14

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33092, MGC43671

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-aspartate transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
high-affinity glutamate transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-aspartate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
L-glutamate import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
L-glutamate transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
aspartate transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
glutamate secretion TAS
Traceable Author Statement
more info
 
ion transport TAS
Traceable Author Statement
more info
 
neurotransmitter uptake IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
membrane protein complex ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
excitatory amino acid transporter 4
Names
sodium-dependent glutamate/aspartate transporter
solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6

NCBI Reference Sequences (RefSeq)

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_001272087.2NP_001259016.1  excitatory amino acid transporter 4 isoform 1

    See identical proteins and their annotated locations for NP_001259016.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC004659, BC028721, BC040604, BI829415, DA059558
    Consensus CDS
    CCDS62578.1
    UniProtKB/Swiss-Prot
    P48664
    Related
    ENSP00000471781.1, ENST00000598504.5
    Conserved Domains (1) summary
    cl00573
    Location:58312
    SDF; Sodium:dicarboxylate symporter family
  2. NM_001272088.2NP_001259017.1  excitatory amino acid transporter 4 isoform 1

    See identical proteins and their annotated locations for NP_001259017.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC004659, BC028721, DA059558, DR004792
    Consensus CDS
    CCDS62578.1
    UniProtKB/Swiss-Prot
    P48664
    Related
    ENSP00000446175.1, ENST00000544886.6
    Conserved Domains (1) summary
    cl00573
    Location:58312
    SDF; Sodium:dicarboxylate symporter family
  3. NM_005071.2NP_005062.1  excitatory amino acid transporter 4 isoform 2

    See identical proteins and their annotated locations for NP_005062.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2 which is longer and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK302380, BC028721, HY352099, U18244
    Consensus CDS
    CCDS12321.1
    UniProtKB/Swiss-Prot
    P48664
    UniProtKB/TrEMBL
    B7Z7Q5
    Related
    ENSP00000221742.3, ENST00000221742.7
    Conserved Domains (1) summary
    pfam00375
    Location:58522
    SDF; Sodium:dicarboxylate symporter family

RNA

  1. NR_073589.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK302380, DA200776, DB027852, HY352099, U18244
    Related
    ENST00000430939.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    14950033..15010643 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722842.2XP_006722905.1  excitatory amino acid transporter 4 isoform X1

    See identical proteins and their annotated locations for XP_006722905.1

    UniProtKB/Swiss-Prot
    P48664
    Conserved Domains (1) summary
    pfam00375
    Location:58522
    SDF; Sodium:dicarboxylate symporter family
  2. XM_006722844.1XP_006722907.1  excitatory amino acid transporter 4 isoform X1

    See identical proteins and their annotated locations for XP_006722907.1

    UniProtKB/Swiss-Prot
    P48664
    Conserved Domains (1) summary
    pfam00375
    Location:58522
    SDF; Sodium:dicarboxylate symporter family
  3. XM_017027152.2XP_016882641.1  excitatory amino acid transporter 4 isoform X1

    UniProtKB/Swiss-Prot
    P48664
    Related
    ENSP00000471038.1, ENST00000600144.5
    Conserved Domains (1) summary
    pfam00375
    Location:58522
    SDF; Sodium:dicarboxylate symporter family
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