PharmGKB: The Pharmacogenomics Knowledge Base

Gene:
SLC1A1
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1

Overview

Alternate Names: OTTHUMP00000021006; excitatory amino acid carrier 1; excitatory amino acid transporter-3; solute carrier family 1, member 1
Alternate Symbols: EAAC1; EAAT3
PharmGKB Accession Id: PA35826

Details

Cytogenetic Location: chr9 : p24.2
GP mRNA Boundary†: chr9 : 4480444 - 4577469
GP Gene Boundary†: chr9 : 4470444 - 4580469
Strand: plus
Product Name: excitatory amino acid carrier 1, excitatory amino acid transporter-3, solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1, solute carrier family 1, member 1
† The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Curated Annotations (Curated Annotation)

  1. rs2228622 at chr9:4554432 in SLC1A1
    Risk or phenotype-associated variant: A. Phenotype: The A/C/G haplotype at rs2228622-rs3780413-rs3780412 showed a significant association with atypical antipsychotic-induced obsessive compulsive symptoms. Study size: 94. Study population/ethnicity: Patients with schizophrenia receiving atypical antipsychotics; Asian; Korea. Significance metric(s): p = 0.04. Type of association: CO.
    Variant Name:
    SLC1A1:rs2228622G>A, SNP2, Exon 4(syn)
    Related Drugs:
    clozapine, olanzapine, risperidone
    Related Diseases:
    Obsessive-Compulsive Disorder, Schizophrenia
    Evidence:
    PMID:19884611
  2. rs3780413 at chr9:4557353 in SLC1A1
    Risk or phenotype-associated variant: C. Phenotype: The A/C/G haplotype at rs2228622-rs3780413-rs3780412 showed a significant association with atypical antipsychotic-induced obsessive compulsive symptoms. Study size: 94. Study population/ethnicity: Patients with schizophrenia receiving atypical antipsychotics; Asian; Korea. Significance metric(s): p = 0.04. Type of association: CO.
    Variant Name:
    SLC1A1:rss3780413C>G, SNP3, Intron 5
    Related Drugs:
    clozapine, olanzapine, risperidone
    Related Diseases:
    Obsessive-Compulsive Disorder, Schizophrenia
    Evidence:
    PMID:19884611
  3. rs3780412 at chr9:4562480 in SLC1A1
    Risk or phenotype-associated variant: G. Phenotype: The A/C/G haplotype at rs2228622-rs3780413-rs3780412 showed a significant association with atypical antipsychotic-induced obsessive compulsive symptoms. Study size: 94. Study population/ethnicity: Patients with schizophrenia receiving atypical antipsychotics; Asian; Korea. Significance metric(s): p = 0.04. Type of association: CO.
    Variant Name:
    SLC1A1:rs3780412A>G, SNP4, Intron 7
    Related Drugs:
    clozapine, olanzapine, risperidone
    Related Diseases:
    Obsessive-Compulsive Disorder, Schizophrenia
    Evidence:
    PMID:19884611
Variant names are different names that have been used in the literature and other resources to refer to the same variant.

Non-Curated Information

A list of non-curated publications that mention this gene along with other genes is available.

Curated Information

The following drugs are in curated knowledge about this gene.

  Drug Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
clozapine
  • CO
  •   
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
olanzapine
  • CO
  •   
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
risperidone
  • CO
  •   
  •   
  •   
  •   
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information

The following diseases are in curated knowledge about this gene.

  Disease Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
Obsessive-Compulsive Disorder
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Schizophrenia
  • CO
  •   
  •   
  •   
  •   
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

LinkOuts

Entrez Gene ID:
6505
OMIM Accession:
133550
UCSC Genome Browser ID:
NM_004170
Ref Seq NM Accession:
NM_004170
Ref Seq NP Accession:
AAA50430
AAA53215
AAA68628
AAC25029
AAC27511
AAH33040
ABM83351
ABM86565
BAB83767
BAG35848
CAH71965
CAI41261
CAI41264
EAW58786
NP_004161
P43005
Ref Seq NT Accession:
AC_000052
AC_000141
NC_000009
NT_008413
NW_001839149
NW_924062
UniProtKB Accesssion:
EAA3_HUMAN (P43005)
Ensembl ID:
ENSG00000106688
GenAtlas ID:
SLC1A1
GeneCard ID:
SLC1A1
SOURCE ID:
SLC1A1
MutDB ID:
SLC1A1
PromoLign ID:
ortho_4111
HuGE ID:
SLC1A1
Comparative Toxicogenomics Acc ID:
6505
ModBase:
P43005

Common Searches

Non-Curated Publications

A list of non-curated publications that mention this gene is available.

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