SLC1A7 (solute carrier family 1 member 7)

2014-11-01  

Identity

HGNC
LOCATION
1p32.3
LOCUSID
ALIAS
AAAT,EAAT5
FUSION GENES

Other Information

Locus ID:

NCBI: 6512
MIM: 604471
HGNC: 10945
Ensembl: ENSG00000162383

Variants:

dbSNP: 6512
ClinVar: 6512
TCGA: ENSG00000162383
COSMIC: SLC1A7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162383ENST00000371491O00341
ENSG00000162383ENST00000371494O00341
ENSG00000162383ENST00000611397F1T0D4
ENSG00000162383ENST00000620288F1T0D2
ENSG00000162383ENST00000620347A0A087WUF9
ENSG00000162383ENST00000649098F1T0D3

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10

Pathways

PathwaySourceExternal ID
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Glutamate Neurotransmitter Release CycleREACTOMER-HSA-210500
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
157376482005Regulation of the excitatory amino acid transporter EAAT5 by the serum and glucocorticoid dependent kinases SGK1 and SGK3.4
204244732010L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.0

Citation

Dessen P

SLC1A7 (solute carrier family 1 member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73313/slc1a7