SLC19A3 Membrane Protein Introduction

Introduction of SLC19A3

Thiamine transporter 2 (ThTr-2), also known as solute family 19 member 3, is a protein encoded by the SLC19A3 gene. SLC19A3 is a thiamine transporter. This protein regulates high-affinity thiamine absorption through a proton anti-port mechanism. ThTr-2 is an untranslated transmembrane thiamine transporter that lacks the transport activity of folic acid. It is particularly inhibited by chloroquine. Mutation of the gene SLC19A3 leads to thiamine metabolic dysfunction syndrome 2, also known as "bio-triamine reactive basal ganglia disease" (BTBGD).

Basic Information of SLC19A3
Protein Name	Thiamine transporter 2 (ThTr2)
Gene Name	SLC19A3
Aliases	Solute carrier family 19 member 3
Organism	Homo sapiens (Human)
UniProt ID	Q9BZV2
Transmembrane Times	12
Length (aa)	496
Sequence	MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAEITNEIFPVWTYSYLVLLLPVFVLTDYVRYKPVIILQGISFIITWLLLLFGQGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAAYTAGSVLAQLLVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFHAKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILSTSGKLNKGQLNSLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQILWDYKAPSQDSSIYNGAVEAIATFGGAVAAFAVGYVKVNWDLLGELALVVFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNVERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIAGIFLMRSMYITYSTKSQKDVQSPAPSENPDVSHPEEESNIIMSTKL

Function of SLC19A3 Protein

The two transporters of the solute 19 family, THTR1 and THTR2, encoded by the SLC19A2 and SLC19A3 genes, respectively, are responsible for the transport of thiamine on the plasma membrane. THTR2 is widely expressed, expressing the highest THTR2 intestine. Specifically, THTR2 is commonly found in the apical membrane. THTR1 and THTR2 are reverse-transported proton-linked transporters with an affinity for thiamine (km) ~ 2.5μm 27 nm for THTR1 and THTR2. The mutation of SLC10A3 gene leads to bioreactive basal ganglia disease (BBGD).BBGD is a recessive disease in childhood, which if left untreated, will develop into chronic encephalopathy, dystonia, quadriplegia and death. Patients with BBGD have bilateral necrosis in the caudate nucleus and putamen's head. In the early development of the disease, high-dose biotin treatment eliminates pathological symptoms, while delayed treatment leads to residual side effects, mild mental retardation, or dystonia. Administration of thiamine is ineffective in treating this disease. The experiment did not prove that this protein can transport biotin. Mutations in this gene can also cause a Wernicke's-like encephalopathy.

Fig.1 The structure of SLC19A3 Protein.

Application of SLC19A3 Protein in Literature

Zera K., et al. Role of HIF-1α in the Hypoxia Inducible Expression of the Thiamine Transporter, SLC19A3. Gene. 2016, 595(2):212-220.PubMed ID: 27743994.

This study showed the direct binding and activation of SLC19A3 expression by HLC-1α under the hypoxia stress, indicates that hif-1 has an important adaptive regulatory role in the maintenance of thiamine homeostasis.
Cheuk I. W., et al. Association of EP2 Receptor and SLC19A3 in Regulating Breast Cancer Metastasis. American Journal of Cancer Research.2015,5 (11): 3389–3399.PubMed ID: 26807319.

The new findings suggest that EP2 receptors regulate metastasis through down-regulation of SLC19A3
Whitford W., et al. Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. Cold Spring Harbor Molecular Case Studies. 2017, 3(6): a001909. PubMed ID: 28696212.

This deletion is aimed to define the minimal promoter region of SLC19A3 by detecting the smallest promoter deletion reported up to date.
Flønes I., et al. Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. PLoS ONE. 2016, 11 (2): e0149055. PubMed ID: 26863430.

The authors found that a large number of genomic deletions occurred in the regulatory region of SLC19A3 and should be considered in genetic testing.
Vernau K., et al. Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1. Brain pathology (Zurich, Switzerland). 2015, 25 (4): 441–453. PubMed ID: 25117056.

These results suggest that the progression of neurological diseases leading to death is most likely due to local thiamine deficiency, which is due to a functional mutation that occurs in SLC19A3.1, a gene which codes a thiamine transporter.

SLC19A3 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-SLC19A3 antibody development services.

Creative Biolabs' skillful scientists are glad to leverage our expertise and advanced technologies to help you with the member protein research. If you are interested, please feel free to contact us for more details.

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

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