Gene: SLC6A1 (solute carrier family 6 (neurotransmitter transporter, GABA), member 1)
Homo sapiens
Symbol:
SLC6A1
Name:
solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Description:
The SLC6A1 gene encodes a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft (Hirunsatit et al., 2009 [PubMed 19077666]).[supplied by OMIM, Jul 2009]
Type:
protein-coding
RefSeq Status:
VALIDATED
Also known as:
gaba transporter protein; GABATHG; GABATR; GAT-1; GAT1; OTTHUMP00000041132; sodium- and chloride-dependent GABA transporter 1; solute carrier family 6 member 1
Orthologs:
Mus musculus : Slc6a1
(solute carrier family 6 (neurotransmitter transporter, GABA), member 1)
MGI
Rattus norvegicus : Slc6a1
(solute carrier family 6 (neurotransmitter transporter, GABA), member 1)
Latest Assembly:
Human Genome Assembly GRCh37
Position:
Map Chr Position Strand Source Human Alternate Assembly CHM1_1 3 10,970,411 - 11,016,762 + NCBI Human Genome Assembly HuRef 3 10,969,346 - 11,015,750 + NCBI Human Genome Assembly GRCh37 3 11,034,420 - 11,080,935 + NCBI Human Genome Assembly Build 36 3 11,009,453 - 11,055,935 + NCBI Human Cytogenetic Map 3 p25.3 ENTREZGENE Human Genome Assembly 3 11,009,455 - 11,055,934 NCBI
Model
Gene-Chemical Interaction Annotations
(+)-pilocarpine decreases expression ISO RGD:620533 6480464 Pilocarpine results in decreased expression of SLC6A1 protein CTD PMID:12183020 (+)-pilocarpine decreases expression ISO RGD:731476 6480464 Pilocarpine results in decreased expression of SLC6A1 mRNA CTD PMID:21219332 17alpha-ethynylestradiol decreases expression ISO RGD:620533 6480464 Ethinyl Estradiol results in decreased expression of SLC6A1 mRNA CTD PMID:15664431 17beta-estradiol decreases expression EXP 6480464 Estradiol results in decreased expression of SLC6A1 mRNA CTD PMID:20106945 aflatoxin B1 affects expression EXP 6480464 Aflatoxin B1 affects the expression of SLC6A1 protein CTD PMID:20106945 ammonium chloride affects expression ISO RGD:620533 6480464 Ammonium Chloride affects the expression of SLC6A1 mRNA CTD PMID:16483693 cyclosporin A decreases expression EXP 6480464 Cyclosporine results in decreased expression of SLC6A1 mRNA CTD PMID:20106945 Delta(9)-tetrahydrocannabinol decreases expression ISO RGD:620533 6480464 Tetrahydrocannabinol results in decreased expression of SLC6A1 mRNA CTD PMID:16616335 dexamethasone affects expression ISO RGD:620533 6480464 Dexamethasone affects the expression of SLC6A1 mRNA CTD PMID:15102944 gamma-aminobutyric acid increases export EXP 6480464 SLC6A1 results in increased export of gamma-Aminobutyric Acid CTD PMID:21748804 gamma-aminobutyric acid increases uptake EXP 6480464 SLC6A1 protein results in increased uptake of gamma-Aminobutyric Acid CTD PMID:15981712 gamma-aminobutyric acid multiple interactions EXP 6480464 Niflumic Acid inhibits the reaction [SLC6A1 protein results in increased uptake of gamma-Aminobutyric Acid] CTD PMID:15981712 iron atom multiple interactions ISO RGD:620533 6480464 [Iron deficiency co-treated with manganese chloride] results in decreased expression of SLC6A1 mRNA; more ... CTD PMID:18771689 iron atom increases expression ISO RGD:620533 6480464 Iron deficiency results in increased expression of SLC6A1 mRNA CTD PMID:18771689 iron atom decreases expression ISO RGD:620533 6480464 Iron deficiency results in decreased expression of SLC6A1 protein CTD PMID:18771689 lead(0) increases expression ISO RGD:620533 6480464 Lead results in increased expression of SLC6A1 protein CTD PMID:15149801 manganese(II) chloride multiple interactions ISO RGD:620533 6480464 [Iron deficiency co-treated with manganese chloride] results in decreased expression of SLC6A1 protein; more ... CTD PMID:18771689 manganese(II) chloride increases expression ISO RGD:620533 6480464 manganese chloride results in increased expression of SLC6A1 mRNA CTD PMID:18771689 manganese(II) chloride decreases expression ISO RGD:620533 6480464 manganese chloride results in decreased expression of SLC6A1 mRNA; more ... CTD PMID:18771689 morphine multiple interactions ISO RGD:731476 6480464 [NNC 711 results in decreased activity of SLC6A1 protein] which affects the susceptibility to Morphine CTD PMID:14598306 morphine affects response to substance ISO RGD:731476 6480464 SLC6A1 protein affects the susceptibility to Morphine CTD PMID:14598306 tacrine increases expression ISO RGD:620533 6480464 Tacrine results in increased expression of SLC6A1 mRNA CTD PMID:12832660 toluene affects expression ISO RGD:620533 6480464 Toluene affects the expression of SLC6A1 mRNA CTD PMID:21827849
Biological Process
gamma-aminobutyric acid import IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 learning IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of synaptic transmission, GABAergic IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 neurotransmitter secretion TAS 2290271 Reactome:REACT_13723 Reactome Reactome:REACT_13723 positive regulation of gamma-aminobutyric acid secretion IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 protein homooligomerization IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to calcium ion IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to cocaine IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to estradiol stimulus IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to lead ion IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to purine-containing compound IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to sucrose stimulus IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 response to toxic substance IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 synaptic transmission TAS 2290271 Reactome:REACT_13477 Reactome Reactome:REACT_13477 synaptic transmission TAS 2290271 Reactome:REACT_13685 Reactome Reactome:REACT_13685 transmembrane transport TAS 2290271 Reactome:REACT_15518 Reactome Reactome:REACT_15518 transmembrane transport TAS 2290271 Reactome:REACT_19118 Reactome Reactome:REACT_19118 transport NAS 2290271 PMID:8530094 PINC PMID:8530094
Cellular Component
axon IEA Ensembl:ENSMUSP00000032454 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 cell surface IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 integral to membrane TAS 2290271 PMID:8530094 PINC PMID:8530094 integral to plasma membrane IEA InterPro:IPR002980 2290271 GO_REF:0000002 InterPro GO_REF:0000002 membrane TAS 2290271 PMID:2387399 PINC PMID:2387399 plasma membrane IEA Ensembl:ENSMUSP00000032454 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 plasma membrane TAS 2290271 Reactome:REACT_20659 Reactome Reactome:REACT_20659 plasma membrane IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019
Molecular Function
gamma-aminobutyric acid:sodium symporter activity IEA Ensembl:ENSRNOP00000009705 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 neurotransmitter:sodium symporter activity IEA InterPro:IPR000175 2290271 GO_REF:0000002 InterPro GO_REF:0000002
1559253 SCL83_H Serum cholesterol level QTL 83 (human) 1.8 Lipid level HDL cholesterol subfraction 3 3 1 14036366 Human 2289318 BW377_H Body weight QTL 377 (human) 2.16 .0008 Body fat amount abdominal 3 1 14036366 Human 2289503 BW443_H Body weight QTL 443 (human) 3.7 Body weight BMI 3 1 14036366 Human 2289518 BW454_H Body weight QTL 454 (human) 3.19 Body fat amount subcutaneous 3 1 14036366 Human 2314747 GLUCO72_H Glucose level QTL 72 (human) 1.3 .011 Glucose level non-insulin dependent 3 1 14448363 Human 2293390 PRSTS200_H Prostate tumor susceptibility QTL 200 (human) 2.44 Prostate tumor susceptibility 3 1 15038567 Human 2301175 PRSTS361_H Prostate tumor susceptibility QTL 361 (human) 2.46 Prostate tumor susceptibility 3 1 15038567 Human 2301184 PRSTS366_H Prostate tumor susceptibility QTL 366 (human) 2.57 Prostate tumor susceptibility 3 1 15038567 Human 2302774 MAMTS13_H Mammary tumor susceptibility QTL 13 (human) .034 Mammary tumor susceptibility 3 1 16296633 Human 2292850 MYI18_H Myocardial infarction susceptibility QTL 18 (human) Myocardial infarction susceptibility early-onset 3 1 17313192 Human 1643415 BW272_H Body Weight QTL 272 (human) 1.8 .002 Body weight 3 1 19919421 Human 1559349 SCL88_H Serum cholesterol level QTL 88 (human) 1.67 .003 Lipid level total cholesterol 3 1 24517367 Human 1559363 SCL87_H Serum cholesterol level QTL 87 (human) 2.47 .0004 Lipid level LDL cholesterol 3 1 24517367 Human 1300011 BW24_H Body weight QTL 24 (human) 2.03 Body weight body mass index 3 1 25098826 Human 1298439 BP30_H Blood pressure QTL 30 (human) 2.03 Blood pressure systolic 3 1 32165375 Human 1643372 BW336_H Body weight QTL 336 (human) 2.2 Body fat amount percent body fat 3 172530 26172530 Human 2289256 BW95_H Body weight QTL 95 (human) 1.61 .0032 Body fat amount percent fat 3 704334 26704334 Human 1643090 BW152_H Body weight QTL 152 (human) .0112 Body fat amount percent body fat 3 2819327 28819327 Human 1298511 RA3_H Rheumatoid arthritis QTL 3 (human) .0139 Joint/bone inflammation rheumatoid arthritis 3 8949604 34949604 Human 1643540 GLUCO17_H Glucose level QTL 17 (human) .007 Glucose level non-insulin-dependent 3 8949604 34949604 Human 1559370 BW78_H Body weight QTL 78 (human) 1.77 .0065 Body weight body mass index 3 10668524 32165375 Human