• Gene id: 6512

Gene Summary

• Gene Symbol: SLC1A7   Gene   UCSC   Ensembl
• Aliases: AAAT, EAAT5
• Gene name: solute carrier family 1 member 7
• Alternate names: excitatory amino acid transporter 5, excitatory amino acid transporter 5 (retinal glutamate transporter), retinal glutamate transporter, solute carrier family 1 (glutamate transporter), member 7,
• Gene location: 1p32.3 (53142637: 53087182)     Exons: 13     NC_000001.11
• OMIM: 176398

Protein Summary

• Protein general information: O00341  
  • Name: Excitatory amino acid transporter 5 (Retinal glutamate transporter) (Solute carrier family 1 member 7)
  • Length: 560  
  • Mass: 60658
  • Tissue specificity: Expressed primarily in retina. Detectable in liver, heart, muscle and brain.
• Sequence:

  MVPHAILARGRDVCRRNGLLILSVLSVIVGCLLGFFLRTRRLSPQEISYFQFPGELLMRMLKMMILPLVVSSLMS
  GLASLDAKTSSRLGVLTVAYYLWTTFMAVIVGIFMVSIIHPGSAAQKETTEQSGKPIMSSADALLDLIRNMFPAN
  LVEATFKQYRTKTTPVVKSPKVAPEEAPPRRILIYGVQEENGSHVQNFALDLTPPPEVVYKSEPGTSDGMNVLGI
  VFFSATMGIMLGRMGDSGAPLVSFCQCLNESVMKIVAVAVWYFPFGIVFLIAGKILEMDDPRAVGKKLGFYSVTV
  VCGLVLHGLFILPLLYFFITKKNPIVFIRGILQALLIALATSSSSATLPITFKCLLENNHIDRRIARFVLPVGAT
  INMDGTALYEAVAAIFIAQVNNYELDFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAV
  DWALDRFRTMINVLGDALAAGIMAHICRKDFARDTGTEKLLPCETKPVSLQEIVAAQQNGCVKSVAEASELTLGP
  TCPHHVPVQVEQDEELPAASLNHCTIQISELETNV

• Structural information:
  • Interpro: IPR001991  IPR018107  IPR036458  
  • Prosite: PS00713 PS00714
• Other Databases: GeneCards:  SLC1A7  Malacards:  SLC1A7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
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:0016020	membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0015813	L-glutamate transmembrane transport	IEA	biological process
GO:0006835	dicarboxylic acid transport	TAS	biological process
GO:0005313	L-glutamate transmembrane transporter activity	TAS	molecular function
GO:0098810	neurotransmitter reuptake	IMP	biological process
GO:0001504	neurotransmitter uptake	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04724	Glutamatergic synapse
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq