Gene Gene information from NCBI Gene database.
Entrez ID 6529
Gene name Solute carrier family 6 member 1
Gene symbol SLC6A1
Synonyms (NCBI Gene)
GABATHGGABATRGAT1MAEhGAT-1
Chromosome 3
Chromosome location 3p25.3
Summary The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]
SNPs SNP information provided by dbSNP.
36
SNP ID Visualize variation Clinical significance Consequence
rs745529755 C>A,T Pathogenic Stop gained, coding sequence variant, synonymous variant
rs749240316 G>A,C Likely-pathogenic, pathogenic, uncertain-significance Coding sequence variant, missense variant
rs752396911 G>A,C,T Pathogenic Coding sequence variant, missense variant
rs794726860 C>T Pathogenic-likely-pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs876657400 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
115
miRTarBase ID miRNA Experiments Reference
MIRT490368 hsa-miR-4779 PAR-CLIP 20371350
MIRT490366 hsa-miR-211-3p PAR-CLIP 20371350
MIRT490365 hsa-miR-151a-5p PAR-CLIP 20371350
MIRT490364 hsa-miR-151b PAR-CLIP 20371350
MIRT490363 hsa-miR-4285 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IEA
GO:0005283 Function Amino acid:sodium symporter activity IEA
GO:0005332 Function Gamma-aminobutyric acid:sodium:chloride symporter activity IBA
GO:0005332 Function Gamma-aminobutyric acid:sodium:chloride symporter activity IDA 10973981
GO:0005332 Function Gamma-aminobutyric acid:sodium:chloride symporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137165 11042 ENSG00000157103
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30531
Protein name Sodium- and chloride-dependent GABA transporter 1 (GAT-1) (Solute carrier family 6 member 1)
Protein function Mediates transport of gamma-aminobutyric acid (GABA) together with sodium and chloride and is responsible for the reuptake of GABA from the synapse (PubMed:30132828). The translocation of GABA, however, may also occur in the reverse direction le
PDB 7SK2 , 7Y7V , 7Y7W , 7Y7Y , 7Y7Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00209 SNF 44 559 Sodium:neurotransmitter symporter family Family
Sequence
Sequence length 599
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Synaptic vesicle cycle
GABAergic synapse
  Na+/Cl- dependent neurotransmitter transporters
Reuptake of GABA
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
842
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely pathogenic; Pathogenic rs794726860 RCV002508925
Autosomal dominant epilepsy Pathogenic rs794726859 RCV003156080
Epilepsy with myoclonic atonic seizures Likely pathogenic; Pathogenic rs1064795852, rs2124907093, rs2124912717, rs2124917812, rs2124926277, rs2124932157, rs2124905696, rs2124905063, rs2124905507, rs2124930966, rs1553689859, rs2124932194, rs2124926212, rs2124908824, rs2124924957
View all (97 more)
RCV005057349
RCV005057347
RCV003444855
RCV005057359
RCV005057354
RCV003444853
RCV003444911
RCV003444912
RCV003444914
RCV003444920
RCV003444921
RCV005057615
RCV005057618
RCV005057810
RCV003444962
RCV005057741
RCV005057851
RCV005057706
RCV005057930
RCV005057917
RCV005057732
RCV005057764
RCV005057769
RCV005057839
RCV003444243
RCV003444245
RCV003444246
RCV003444247
RCV003444250
RCV003444251
RCV003444253
RCV003444254
RCV003444256
RCV003444263
RCV003444275
RCV003444276
RCV005059146
RCV003444212
RCV003444213
RCV003444214
RCV003444215
RCV003444216
RCV003444290
RCV005059055
RCV005059061
RCV005059064
RCV005059069
RCV005059070
RCV005059081
RCV005059103
RCV005059112
RCV005059114
RCV005059118
RCV003444378
RCV003444225
RCV003444384
RCV003444387
RCV005062947
RCV005062950
RCV005062997
RCV005063005
RCV005063012
RCV005063031
RCV005063039
RCV005063087
RCV005063116
RCV005063133
RCV005059593
RCV005059595
RCV005059598
RCV003444552
RCV003444551
RCV003444550
RCV005056051
RCV003444553
RCV003444555
RCV003444558
RCV003444559
RCV003444564
RCV003444594
RCV003444576
RCV005056345
RCV003444616
RCV003444613
RCV005056443
RCV003444642
RCV003444640
RCV005056430
RCV005056435
RCV005056573
RCV003444692
RCV005056590
RCV005056602
RCV003444696
RCV003444695
RCV003444698
RCV003444699
RCV003444731
RCV005208153
RCV003444733
RCV003444740
RCV003444739
RCV003444737
RCV005056831
RCV005056829
RCV005056830
RCV005056809
RCV005056811
RCV005057107
RCV005057095
RCV005057096
RCV005057094
RCV005057087
RCV005057114
RCV003444801
RCV003444808
RCV005253772
RCV003444811
Global developmental delay Likely pathogenic; Pathogenic rs886042046, rs1574891108 RCV001007935
RCV001003581
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs6342 RCV005915928
Hepatocellular carcinoma Conflicting classifications of pathogenicity rs34969656 RCV005897144
Malignant tumor of esophagus Benign rs6342 RCV005915927
Marfanoid habitus and intellectual disability Conflicting classifications of pathogenicity rs1064795099 RCV000850413
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 35761184
Alcoholism Associate 26727527
Alzheimer Disease Associate 37264161
Anxiety Associate 18607529
Anxiety Disorders Associate 18607529
Aortic Valve Stenosis Associate 32375772
Ataxia Associate 29315614
Attention Deficit Disorder with Hyperactivity Associate 23527680, 32375772
Auditory Perceptual Disorders Associate 23527680
Autistic Disorder Associate 33527113, 34028503, 35761184