SLC1A1
Homo sapiens
Gene Name: solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
Aliases: EAAC1; EAAT3
Chromosome No: 9
Chromosome Band: 9p24.2
Genetic Category: Genetic association-Rare single gene variant-Multigenic CNV
Aliases: EAAC1; EAAT3
Chromosome No: 9
Chromosome Band: 9p24.2
Genetic Category: Genetic association-Rare single gene variant-Multigenic CNV
Summary Statistics:
ASD Reports: 14
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 14
Evidence score: 2
ASD Reports: 14
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 14
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Studies have found genetic association between polymorphisms of the SLC1A1 gene and autism.
Molecular Function
This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. This transporter also transports aspartate.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Family-Based Association Testing of OCD-associated SNPs of SLC1A1 in an autism sample.
ASD
Positive Association
Glutamate transporter gene (SLC1A1) single nucleotide polymorphism (rs301430) and repetitive behaviors and anxiety in children with autism spectrum...
ASD
Positive Association
Association of SNPs linked to increased expression of SLC1A1 with schizophrenia.
SCZ
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family.
SCZ
BPD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Highly Cited
EAAC1, a high-affinity glutamate tranporter, is localized to astrocytes and gabaergic neurons besides pyramidal cells in the rat cerebral cortex.
Highly Cited
Knockout of glutamate transporters reveals a major role for astroglial transport in excitotoxicity and clearance of glutamate.
Highly Cited
Glutamate transporter gene SLC1A1 associated with obsessive-compulsive disorder.
OCD
Highly Cited
Primary structure and functional characterization of a high-affinity glutamate transporter.
Highly Cited
Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN231R003
copy_number_loss
Familial
Maternal & Paternal
Multi-generational
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN231C001
synonymous_variant
rs301430
c.1110T>C
p.(=)
United States
Discovery
GEN231C003
intron_variant
rs301434
c.1194-956C>T
T/C
157 probands with DSM-IV OCD recruited from consecutive referrals and their first-degree relatives (476 individuals in total).
Discovery
GEN231C004
intron_variant
rs301435
c.1194-195T>C
T/C
157 probands with DSM-IV OCD recruited from consecutive referrals and their first-degree relatives (476 individuals in total).
Discovery
GEN231C007
intron_variant
rs7022369
c.92-16815C>G
C/G
Discovery: 576 unrelated individuals withschizophreniaand 576 control subjects; Replication: 1,344 individuals withschizophreniaand 1,344 control subjects
Discovery & Replication
GEN231C008
intron_variant
rs4641119
c.232+200A>C
A/C
Discovery: 576 unrelated individuals withschizophreniaand 576 control subjects; Replication: 1,344 individuals withschizophreniaand 1,344 control subjects
Discovery & Replication
