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

Gene ID: 6511, updated on 22-Sep-2022

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
Predicted to enable high-affinity glutamate transmembrane transporter activity. Involved in neurotransmitter uptake. Located in intermediate filament cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 7.7), brain (RPKM 2.7) and 1 other tissue See more
Orthologs
NEW
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Genomic context

See SLC1A6 in Genome Data Viewer
Location:
19p13.12
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14950033..15010643, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (15074841..15135544, complement)
105.20220307 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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
    UniProtKB/Swiss-Prot
    Q8N753
    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
    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
    B7Z7Q5
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    Q8N753
    Related
    ENSP00000471038.1, ENST00000600144.5
  2. XM_047439233.1XP_047295189.1  excitatory amino acid transporter 4 isoform X1

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

    UniProtKB/Swiss-Prot
    P48664, Q8N753
    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)