SLC6A11 - solute carrier family 6 member 11 Gene

Also Known as GAT3; GAT4; GAT-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6538

About SLC6A11

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:10,816,228-10,940,714 (from NCBI)

This gene has 3 transcripts (splice variants), 200 orthologues and 19 paralogues. Biased expression in brain (RPKM 2.2), esophagus (RPKM 0.8) and 3 other tissues.

Summary

The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

SLC6A11 Products (2)

mRNA Protein Name
NM_001317406.3 NP_001304335.1 sodium- and chloride-dependent GABA transporter 3 isoform 2
NM_014229.3 NP_055044.1 sodium- and chloride-dependent GABA transporter 3 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables gamma-aminobutyric acid:sodium:chloride symporter activity IDA
IDA: Inferred from direct assay
7874447 GOA
enables monocarboxylic acid transmembrane transporter activity IDA
IDA: Inferred from direct assay
29175673 GOA
Biological Process GO Annotation Evidence References Source
involved in monocarboxylic acid transport IDA
IDA: Inferred from direct assay
29175673 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A11 Protein Structure

SNF

SNF: Sodium:neurotransmitter symporter family (50 - 575)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 632 a.a.
Protein Preferred Names Protein Names

sodium- and chloride-dependent GABA transporter 3

  • GABA transporter 3

Related Diseases

Diseases Alias
Giant Axonal Neuropathy 1, Autosomal Recessive

  • Giant Axonal Neuropathy

  • Giant Axonal Neuropathy 1

  • Gan

  • GAN1

  • Giant Axonal Neuropathy-1

  • Neuropathy, Giant Axonal

  • Giant Axonal Disease

  • Neuropathy, Axonal, Giant, Type 1
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Childhood Absence Epilepsy

  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy
Iminoglycinuria

  • Iminoglycinuria, Digenic

  • IG
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13297 SLC6A11 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SLC6A11 VGNC VGNC:77616
Rattus norvegicus SLC6A11 RGD RGD:628737
Felis catus SLC6A11 VGNC VGNC:65409
Canis familiaris SLC6A11 VGNC VGNC:46454
Mus musculus SLC6A11 MGD MGI:95630
Bos taurus SLC6A11 VGNC VGNC:34914
Others SLC6A11 NCBI