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

    Gene ID: 6511, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:10944
    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
    Summary
    Enables L-aspartate transmembrane transporter activity; L-glutamate transmembrane transporter activity; and glutamate:sodium symporter activity. Involved in L-aspartate import across plasma membrane; L-glutamate import across plasma membrane; and neurotransmitter uptake. Located in intermediate filament cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 7.7), brain (RPKM 2.7) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC1A6 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14950033..15010643, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (15074841..15135544, complement)
    RS_2024_09 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 tektin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10264 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC33092, MGC43671

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of membrane protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    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)

    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.

    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_001384669.1NP_001371598.1  excitatory amino acid transporter 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC004659
      Consensus CDS
      CCDS12321.1
      UniProtKB/Swiss-Prot
      P48664, Q8N753
      UniProtKB/TrEMBL
      M0R063
      Related
      ENSP00000221742.3, ENST00000221742.7
      Conserved Domains (1) summary
      pfam00375
      Location:58522
      SDF; Sodium:dicarboxylate symporter family
    4. NM_001384670.1NP_001371599.1  excitatory amino acid transporter 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC004659
      Consensus CDS
      CCDS62578.1
      Conserved Domains (1) summary
      cl00573
      Location:58312
      SDF; Sodium:dicarboxylate symporter family
    5. NM_001384671.1NP_001371600.1  excitatory amino acid transporter 4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC004659
      Conserved Domains (1) summary
      cl00573
      Location:58117
      SDF; Sodium:dicarboxylate symporter family
    6. NM_005071.3NP_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)
      AC004659
      Consensus CDS
      CCDS12321.1
      UniProtKB/Swiss-Prot
      P48664, Q8N753
      UniProtKB/TrEMBL
      M0R063
      Related
      ENSP00000472133.2, ENST00000594383.2
      Conserved Domains (1) summary
      pfam00375
      Location:58522
      SDF; Sodium:dicarboxylate symporter family

    RNA

    1. NR_073589.2 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: 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_000019.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047439234.1XP_047295190.1  excitatory amino acid transporter 4 isoform X1

      UniProtKB/Swiss-Prot
      P48664, Q8N753
      UniProtKB/TrEMBL
      M0R063
      Related
      ENSP00000471038.1, ENST00000600144.5
    2. XM_047439233.1XP_047295189.1  excitatory amino acid transporter 4 isoform X1

      UniProtKB/Swiss-Prot
      P48664, Q8N753
      UniProtKB/TrEMBL
      M0R063
    3. XM_017027152.3XP_016882641.1  excitatory amino acid transporter 4 isoform X1

      UniProtKB/Swiss-Prot
      P48664, Q8N753
      UniProtKB/TrEMBL
      M0R063
      Conserved Domains (1) summary
      pfam00375
      Location:58522
      SDF; Sodium:dicarboxylate symporter family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      15074841..15135544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321792.1XP_054177767.1  excitatory amino acid transporter 4 isoform X1

      UniProtKB/Swiss-Prot
      P48664, Q8N753
      UniProtKB/TrEMBL
      M0R063
    2. XM_054321791.1XP_054177766.1  excitatory amino acid transporter 4 isoform X1

      UniProtKB/Swiss-Prot
      P48664, Q8N753
      UniProtKB/TrEMBL
      M0R063
    3. XM_054321790.1XP_054177765.1  excitatory amino acid transporter 4 isoform X1

      UniProtKB/Swiss-Prot
      P48664, Q8N753
      UniProtKB/TrEMBL
      M0R063