• Gene id: 6511

Gene Summary

• Gene Symbol: SLC1A6   Gene   UCSC   Ensembl
• Aliases: EAAT4
• Gene name: solute carrier family 1 member 6
• Alternate names: excitatory amino acid transporter 4, sodium-dependent glutamate/aspartate transporter, solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6,
• Gene location: 19p13.12 (15010642: 14950032)     Exons: 14     NC_000019.10
• OMIM: 600637

Protein Summary

• Protein general information: P48664  
  • Name: Excitatory amino acid transporter 4 (Sodium dependent glutamate/aspartate transporter) (Solute carrier family 1 member 6)
  • Length: 564  
  • Mass: 61565
  • Tissue specificity: Brain. Expressed densely and selectively in cell bodies of Purkinje cells.
• Sequence:

  MSSHGNSLFLRESGQRLGRVGWLQRLQESLQQRALRTRLRLQTMTLEHVLRFLRRNAFILLTVSAVVIGVSLAFA
  LRPYQLTYRQIKYFSFPGELLMRMLQMLVLPLIVSSLVTGMASLDNKATGRMGMRAAVYYMVTTIIAVFIGILMV
  TIIHPGKGSKEGLHREGRIETIPTADAFMDLIRNMFPPNLVEACFKQFKTQYSTRVVTRTMVRTENGSEPGASMP
  PPFSVENGTSFLENVTRALGTLQEMLSFEETVPVPGSANGINALGLVVFSVAFGLVIGGMKHKGRVLRDFFDSLN
  EAIMRLVGIIIWYAPVGILFLIAGKILEMEDMAVLGGQLGMYTLTVIVGLFLHAGIVLPLIYFLVTHRNPFPFIG
  GMLQALITAMGTSSSSATLPITFRCLEEGLGVDRRITRFVLPVGATVNMDGTALYEALAAIFIAQVNNYELNLGQ
  ITTISITATAASVGAAGIPQAGLVTMVIVLTSVGLPTEDITLIIAVDWFLDRLRTMTNVLGDSIGAAVIEHLSQR
  ELELQEAELTLPSLGKPYKSLMAQEKGASRGRGGNESAM

• Structural information:
  • Interpro: IPR001991  IPR018107  IPR036458  
  • Prosite: PS00713 PS00714
  • STRING: ENSP00000221742
• Other Databases: GeneCards:  SLC1A6  Malacards:  SLC1A6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098796	membrane protein complex	ISS	cellular component
GO:0005314	high-affinity glutamate transmembrane transporter activity	ISS	molecular function
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0098712	L-glutamate import across plasma membrane	ISS	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006865	amino acid transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0015183	L-aspartate transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0015810	aspartate transmembrane transport	TAS	biological process
GO:0015813	L-glutamate transmembrane transport	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0014047	glutamate secretion	TAS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0005313	L-glutamate transmembrane transporter activity	IEA	molecular function
GO:0015813	L-glutamate transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070778	L-aspartate transmembrane transport	IEA	biological process
GO:0001504	neurotransmitter uptake	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia
hsa04724	Glutamatergic synapse
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray