SLC6A1 (solute carrier family 6 member 1)

2013-01-01 Affiliation

Identity

HGNC

SLC6A1

LOCATION

3p25.3

LOCUSID

6529

ALIAS

GABATHG,GABATR,GAT1,MAE

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6529
MIM: 137165
HGNC: 11042
Ensembl: ENSG00000157103

Variants:

dbSNP: 6529
ClinVar: 6529
TCGA: ENSG00000157103
COSMIC: SLC6A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000157103	ENST00000287766	P30531
ENSG00000157103	ENST00000287766	A0A024R2G0
ENSG00000157103	ENST00000425938	C9J5P8
ENSG00000157103	ENST00000460480	A0A2R8YEF0
ENSG00000157103	ENST00000642201	P30531
ENSG00000157103	ENST00000642201	A0A024R2G0
ENSG00000157103	ENST00000642515	P30531
ENSG00000157103	ENST00000642515	A0A024R2G0
ENSG00000157103	ENST00000642639	P30531
ENSG00000157103	ENST00000642639	A0A024R2G0
ENSG00000157103	ENST00000642735	P30531
ENSG00000157103	ENST00000642735	A0A024R2G0
ENSG00000157103	ENST00000642767	P30531
ENSG00000157103	ENST00000642767	A0A024R2G0
ENSG00000157103	ENST00000642820	P30531
ENSG00000157103	ENST00000642820	A0A024R2G0
ENSG00000157103	ENST00000643326	A0A2R8YFI0
ENSG00000157103	ENST00000643396	P30531
ENSG00000157103	ENST00000643396	A0A024R2G0
ENSG00000157103	ENST00000643498	P30531
ENSG00000157103	ENST00000643498	A0A024R2G0
ENSG00000157103	ENST00000644175	A0A2R8Y495
ENSG00000157103	ENST00000644314	A0A2R8Y4I3
ENSG00000157103	ENST00000644803	A0A2R8YDD5
ENSG00000157103	ENST00000645029	P30531
ENSG00000157103	ENST00000645029	A0A024R2G0
ENSG00000157103	ENST00000645054	P30531
ENSG00000157103	ENST00000645054	A0A024R2G0
ENSG00000157103	ENST00000645281	B7Z3C5
ENSG00000157103	ENST00000645575	A0A2R8Y3X2
ENSG00000157103	ENST00000645592	P30531
ENSG00000157103	ENST00000645592	A0A024R2G0
ENSG00000157103	ENST00000645776	B7Z3C5
ENSG00000157103	ENST00000645974	P30531
ENSG00000157103	ENST00000645974	A0A024R2G0
ENSG00000157103	ENST00000645985	A0A2R8YF74
ENSG00000157103	ENST00000646022	P30531
ENSG00000157103	ENST00000646022	A0A024R2G0
ENSG00000157103	ENST00000646060	P30531
ENSG00000157103	ENST00000646060	A0A024R2G0
ENSG00000157103	ENST00000646072	B7Z3C5
ENSG00000157103	ENST00000646088	A0A2R8Y495
ENSG00000157103	ENST00000646487	A0A2R8Y867
ENSG00000157103	ENST00000646570	P30531
ENSG00000157103	ENST00000646570	A0A024R2G0
ENSG00000157103	ENST00000646702	P30531
ENSG00000157103	ENST00000646702	A0A024R2G0
ENSG00000157103	ENST00000646924	P30531
ENSG00000157103	ENST00000646924	A0A024R2G0
ENSG00000157103	ENST00000647194	P30531
ENSG00000157103	ENST00000647194	A0A024R2G0
ENSG00000157103	ENST00000647384	A0A2R8YCM3

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Release Cycle	REACTOME	R-HSA-112310
GABA synthesis, release, reuptake and degradation	REACTOME	R-HSA-888590
Reuptake of GABA	REACTOME	R-HSA-888593
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
SLC-mediated transmembrane transport	REACTOME	R-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	REACTOME	R-HSA-425366
Na+/Cl- dependent neurotransmitter transporters	REACTOME	R-HSA-442660

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18005940	2008	HPA axis reactivity: a mechanism underlying the associations among 5-HTTLPR, stress, and depression.	160
18821565	2008	Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.	133
17210573	2007	Concentrative export from the endoplasmic reticulum of the gamma-aminobutyric acid transporter 1 requires binding to SEC24D.	51
19086053	2009	Identification 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
25865495	2015	Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.	34
17099065	2007	The distribution of chandelier cell axon terminals that express the GABA plasma membrane transporter GAT-1 in the human neocortex.	25
12446715	2003	Transmembrane domain I of the gamma-aminobutyric acid transporter GAT-1 plays a crucial role in the transition between cation leak and transport modes.	21
19058789	2009	A common variant in DRD3 receptor is associated with autism spectrum disorder.	19
18367207	2008	Peptide-based interactions with calnexin target misassembled membrane proteins into endoplasmic reticulum-derived multilamellar bodies.	17
20655483	2010	GABA transporter GAT1: a crucial determinant of GABAB receptor activation in cortical circuits?	16

Citation

Dessen P

SLC6A1 (solute carrier family 6 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-01-01

Online version: http://atlasgeneticsoncology.org/gene/53134/slc6a1