SLC30A5

Last update 23 Jan 2025

Basic Info

Synonyms

FLJ12496, FLJ12756, hZTL1

+ [10]

Introduction

Together with SLC30A6 forms a functional proton-coupled zinc ion antiporter mediating zinc entry into the lumen of organelles along the secretory pathway (PubMed:11904301, PubMed:15525635, PubMed:15994300, PubMed:19366695, PubMed:22529353). By contributing to zinc ion homeostasis within the early secretory pathway, regulates the activation and folding of enzymes like alkaline phosphatases and enzymes involved in phosphatidylinositol glycan anchor biosynthesis (PubMed:15525635, PubMed:15994300, PubMed:16636052, PubMed:35525268). Through the transport of zinc into secretory granules of pancreatic beta-cells, plays an important role in the storage and secretion of insulin (PubMed:11904301). Zinc ion:proton antiporter mediating influx and efflux of zinc at the plasma membrane.

100 Clinical Results associated with SLC30A5

100 Translational Medicine associated with SLC30A5

0 Patents (Medical) associated with SLC30A5

124

Literatures (Medical) associated with SLC30A5

01 Jan 2025·JIMD Reports

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter

Article

Author: Narkis, Ginat ; Noyman, Iris ; Staretz‐Chacham, Orna ; Birk, Ohad S. ; Dolgin, Vadim ; Hadar, Noam ; Abramsky, Ramy ; Kanengisser‐Pines, Bibi ; Marks, Kyla ; Eskin‐Schwartz, Marina ; Wormser, Ohad ; Chabosseau, Pauline ; Shany, Eilon ; Bistritzer, Jacob ; Rutter, Guy A.

AbstractThe tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10‐member ZnT/SLC30 family, mobilizing Zn2+ in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male‐specific cardiac death in mice lacking the ZnT5/SLC30A5 zinc transporter, and suggested association of two homozygous frameshift SLC30A5 variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy. We set out to decipher the molecular basis of a severe hypotonia syndrome. Combining homozygosity mapping and exome sequencing studies of consanguineous Bedouin kindred, as well as transfection experiments and zinc monitoring in HEK293 cells, we demonstrate that a bi‐allelic in‐frame 3bp deletion variant in SLC30A5, deleting isoleucine within the highly conserved cation efflux domain of the encoded ZnT5, results in lower cytosolic zinc concentrations, causing a syndrome of severe non‐progressive neonatal axial and limb hypotonia with high‐arched palate and respiratory failure. There was no evidence of hydrops fetalis, cardiomyopathy or multi‐organ involvement. Affected infants required nasogastric tube or gastrostomy feeding, suffered from various degrees of respiratory compromise and failure to thrive and died in infancy. Thus, a biallelic variant in SLC30A5 (ZnT5), affecting cytosolic zinc concentrations, causes a severe hypotonia syndrome with respiratory insufficiency and failure to thrive, lethal by 1 year of age.

01 Oct 2024·International Journal of Experimental Pathology

Zinc transporter ZnT5 is associated with epithelial mesenchymal transition via SMAD1 in breast cancer

Article

Author: Miki, Yasuhiro ; Iwabuchi, Erina ; Ishida, Takanori ; Suzuki, Takashi ; Xu, Junyao ; Sasano, Hironobu ; Kanai, Ayako

AbstractZinc levels in breast cancer tissues have been reported to be higher than those in normal tissues. In addition, the expression levels of zinc transporters, including ZnT5 and ZnT6, are reportedly higher in breast cancer than in normal breast tissues. ZnT5 and ZnT6 also contribute to heterodimer formation and are involved in several biological functions. However, the functions of ZnT5 and ZnT6 heterodimers in breast cancer remain unknown. Therefore, we first investigated the immunolocalization of ZnT5 and ZnT6 in pathological breast cancer specimens and in MCF‐7 and T‐47D breast cancer cells. Next, we used small interfering RNA to assess cell viability and migration in ZnT5 knockdown MCF‐7 and T‐47D cells. Immunohistochemical analysis showed that the number of ZnT5‐positive breast cancer cells was inversely correlated with the pathologic N factor status. ZnT5 knockdown had no effect on cell viability in the presence of 100 μM ZnCl2 in MCF‐7 and T‐47D cells. In a wound healing assay, 100 μM ZnCl2 treatment inhibited cell migration of MCF‐7 and T‐47D cells, whereas ZnT5 knockdown promoted cell migration, decreased E‐cadherin expression and increased vimentin, slug and matrix metalloproteinase 9 expression. Antibody arrays showed that ZnT5 knockdown increased the expression of SMAD1, and that dorsomorphin treatment inhibited the promotion of migratory ability induced by ZnT5 knockdown. The results of this study revealed that both ZnT5 may be involved in less aggressive breast cancer subtypes, possibly through inhibition of cell migration.

01 Sep 2024·Journal of Trace Elements in Medicine and Biology

Zinc transporters expression profile in professional handball players supplemented with zinc

Article

Author: Molina-López, Jorge ; Florea, Daniela ; Gamarra-Morales, Yenifer ; Hogstrand, Christer ; Herrera-Quintana, Lourdes ; Planells, Elena ; Vázquez-Lorente, Héctor

INTRODUCTIONZinc (Zn) deficiency has been described not only on general human health but also within the sports context -as negatively affecting performance-. Thus, Zn status assessment is of great interest for athletes, especially in order to correct deficiency states of this mineral.OBJECTIVEThe overall objective of this work was to assess Zn status in professional handball players during the competitive period (through plasma levels, dietary intake and gene expression of the Zn transporters), as well as to determine the effect of Zn supplementation.METHODSA total of twenty-two participants were recruited, -twelve belonged to the Control Group (CG) and ten male handball players comprised the experimental group (ATH-G)-, being monitored over a 2-month period with 2 evaluation moments: baseline (i.e., initial conditions) and follow-up (i.e., after 8 weeks of training and competition). Zn intake, plasma Zn levels, and gene expression of Zn transporters were obtained.RESULTSPlasma Zn levels were higher in ATH-G than in CG at the end of Zn intervention (p ≤ 0.010). Moreover, differences in the gene expression profile of Zn transporters were observed in ATH-G -with the down-regulation of several Zn transporters-, compared to the CG at baseline (p ≤ 0.05). Likewise, differences in the Zn transporters expression were observed in ATH-G at 8 weeks (all, p ≤ 0.001) -with ZnT2, ZnT5, ZIP3, ZIP5, ZIP11, ZIP13 and ZIP14 transporters being up-regulated-.CONCLUSIONHandball players seemed to have different nutritional needs for Zn, with differences in the gene expression of Zn transporters compared to controls. Zn intervention in our athletes may have influenced the expression of Zn transporters, indicating a potential increase in Zn transporters expression to mobilize Zn at the cellular level at 8 weeks of Zn intervention.

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SLC30A5

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