SLC6A1 Membrane Protein Introduction

Introduction of SLC6A1

SLC6A1 is encoded by SLC6A1 gene. It belongs to the solute carrier family 6 which has been extensively studied during the past few decades because it offers numerous possibilities for therapeutic applications. It is a gamma-aminobutyric acid (GABA) transporter which can remove GABA to synaptic cleft. Meanwhile, many studies conducted on SLC6A1 show that it is related to various diseases, such as myoclonic-atonic epilepsy and myoclonic-astastic epilepsy.

Basic Information of SLC6A1
Protein Name	Sodium- and chloride-dependent GABA transporter 1
Gene Name	SLC6A1
Aliases	GABATR, GABT1, GAT1
Organism	Homo sapiens (Human)
UniProt ID	P30531
Transmembrane Times	12
Length (aa)	599
Sequence	MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMVNTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASGPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLMALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI

Function of SLC6A1 Membrane Protein

SLC6A1, also named as GABA transporter 1, is a member of the main inhibitory transmitter in the brain, the main messenger that says “no” in the CNS. Recent studies have indicated that SLC6A1 variants are strongly associated with autistic spectrum disorder. In addition, research has confirmed several SLC6A1 SNPs could be potential therapeutic targets for epilepsy and play an important role in attention-deficit/hyperactivity disorder risk.

SLC6A1 Membrane Protein Introduction Fig.1 SLC6A1 mutations in myoclonic astatic epilepsy.

Application of SLC6A1 Membrane Protein in Literature

Islam M.P., et al. Language regression in an atypical SLC6A1 mutation. Semin Pediatr Neurol. 2018, 26: 25-27. PubMed ID: 29961511

This article reports the relationship between the SLC6A1 mutations and language delay as well as autistic spectrum disorder. These results indicate that its variants could be potential therapeutic targets for these diseases.
Pesz K., et al. Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15. Eur J Med Genet. 2018, 61(10):596-601. PubMed ID: 29621621

This article reveals that a single allele of SLC6A1 is related with epilepsy and NAA15 is a biomarker for congenital heart defects by using whole genome sequencing and direct Sanger sequencing.
Maolakuerban N., et al. MiR-200c-3p inhibits cell migration and invasion of clear cell renal cell carcinoma via regulating SLC6A1. Cancer Biol Ther. 2018, 19(4): 282-291. PubMed ID: 29394133

Authors in this group analyze the expression level of SLC6A1 in CCRCC cells to identify the association between SLC6A1 and miR-200c-3p. The data show that the miR-200c-3p serves as a suppressor for CCRCC via down-regulating SLC6A1.
Johannesen K.M., et al. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018, 59(2): 389-402. PubMed ID: 29315614

This article focuses on the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. The results suggest that SLC6A1 variants are strongly associated with myoclonic atonic epilepsy, and have a phenotype with language delay and mild/moderate ID.
Yuan F.F., et al. SLC6A1 gene involvement in susceptibility to attention-deficit/hyperactivity disorder: A case-control study and gene-environment interaction. Biol Psychiatry. 2017, 77: 202-208. PubMed ID: 28442423

This article conducts a case-control study to examine the expression of SLC6A1 and the gene polymorphisms in patients who suffer from attention-deficit/hyperactivity disorder. The data illustrate that several variants of SLC6A1 genes have a significant effect on the ADHD risk.

SLC6A1 Preparation Options

To obtain the soluble and functional target protein, the versatile Magic™ membrane protein production platform in Creative Biolabs enables many flexible options, from which you can always find a better match for your particular project. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-SLC6A1 antibody development services.

As a forward-looking research institute as well as a leading custom service provider in the field of membrane protein, Creative Biolabs has won good reputation among our worldwide customers for successfully accomplishing numerous challenging projects including generation of many functional membrane proteins. Please feel free to contact us for more information.

All listed services and products are For Research Use Only. Do Not use in any diagnostic or therapeutic applications.

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