Ask about this productRelated genes to: SLC20A1 antibody
- Gene:
- SLC20A1 NIH gene
- Name:
- solute carrier family 20 member 1
- Previous symbol:
- GLVR1
- Synonyms:
- PiT-1, Glvr-1
- Chromosome:
- 2q14.1
- Locus Type:
- gene with protein product
- Date approved:
- 1989-10-18
- Date modifiied:
- 2016-10-05
Related products to: SLC20A1 antibody
Related articles to: SLC20A1 antibody
- Hepatocellular carcinoma (HCC) is a highly heterogeneous malignancy characterized by marked cellular and spatial diversity within the tumor microenvironment (TME). The transforming growth factor-β (TGF-β) signaling pathway plays a dual role in the initiation and progression of HCC. However, the spatial distribution characteristics and key regulatory mechanisms of TGF-β signaling within HCC tissues remain inadequately elucidated. - Source: PubMed
Publication date: 2026/03/24
Li JunAn JingqiJiang SiyuanWang XuyangZhang FeiLiu JinfeiLi WenbinWang MengdiWu XinjunLi ShuangshuangWang WeilinYu TaoLiu XingLi Meng - SLC20A1 encodes the ubiquitously expressed phosphate transporter PiT1, a protein with roles extending beyond phosphate homeostasis to include regulation of proliferation, differentiation, apoptosis, and embryonic development. While heterozygous SLC20A1 variants have been associated with urinary tract malformations, the impact of biallelic loss-of-function was unknown. We report the first human case of a biallelic homozygous predicted loss of function variant in SLC20A1 (c.674_675delAA; p.K225TfsX34) in a child with multiple congenital anomalies including tetralogy of Fallot, unilateral renal agenesis, postaxial polydactyly, growth impairment, and developmental delay. PiT1 expression was decreased in fibroblasts of the proband. Transcriptome analysis of patient-derived fibroblasts suggests significant dysregulation of pathways critical for organogenesis, including PI3K-Akt, Wnt, MAPK, and BMP signaling. Population screening identified a carrier frequency of 1:432 among Ashkenazi Jewish individuals. Our findings expand the phenotypic spectrum of SLC20A1-related disease and provide evidence that biallelic PiT1 deficiency causes a previously unrecognized multisystem developmental disorder. - Source: PubMed
Publication date: 2026/03/30
Koumakis EugénieHuber CélineChung WendyLeroy ChristineParisot PaulineGaudin RegisZaidan MohamadCormier-Daire ValérieFriedlander GérardHirsch Yoel - Inorganic phosphate (Pi) homeostasis is crucial to organismal health, yet the mechanisms underlying the regulation of it remain unclear. Critically, we lack a clear understanding of the Pi response circuitry in osteogenic cells that identifies altered serum Pi levels and transmits this information to changes in serum FGF23 levels, a key hormone regulating circulating Pi. We utilized genome-wide CRISPR screens in osteogenic Pi-responsive fluorescent reporter cell lines to identify regulators of the response to high phosphate, intersecting those results with loci associated with circulating FGF23 levels by genome-wide association studies (GWAS) and identified a potential role for TGF-β2. We found that each of the three ligands (TGF-β1, 2, 3) can enhance the response to Pi in osteogenic cell lines and ex vivo cultures of calvariae, while inhibitors of TGFβ receptor signaling dampen it. Co-treatment of Pi with TGFβ ligands led to an elevated, synergistic transcriptional induction of , which encodes a key Pi importer, which corresponded with an increased intracellular uptake of phosphate. Furthermore, in mice, blocking TGFβ signaling disrupted the induction of FGF23 in mice on a high phosphate diet, resulting in disrupted downstream endocrine control of phosphate homeostasis. Together, these findings reveal a role for TGFβ signaling in the regulation of phosphate homeostasis in osteogenic cells through regulation of cellular phosphate uptake, which in turn contributes to the maintenance of organismal phosphate homeostasis. - Source: PubMed
Publication date: 2025/12/03
Zhu Emily KKuennen Dylan PTran LongKostalidis Parthena EMannstadt MichaelSurface Lauren E - Dental enamel, the final product of amelogenesis, is a highly mineralized bioceramic that becomes acellular and non-regenerating after tooth eruption. This paper reviews literature that explores inorganic phosphate (Pi) transport during the process of enamel formation or amelogenesis. Evidence from transcriptomics, immunolocalization, and physiology implicates ameloblast-specific sodium-dependent Pi uptake by type III sodium-phosphate cotransporters SLC20A1 (PiT1) and SLC20A2 (PiT2), and by type IIb sodium-phosphate cotransporter SLC34A2 (NaPi-IIb) with stage-specific basal (proximal) or apical (distal) enrichment, and pH-dependent expression. Controlled Pi efflux to the enamel space has been partly attributed to xenotropic and polytropic retrovirus receptor (XPR1) mediated Pi export during maturation-stage amelogenesis. These amelogenesis-specific Pi fluxes operate within a polarized cellular framework in which Ca delivery and extrusion, together with bicarbonate-based buffering regulated by cystic fibrosis transmembrane conductance regulator (CFTR), Solute carrier family 26 (SLC26) exchangers, anion exchanger 2 (AE2), and electrogenic sodium bicarbonate cotransporter 1 (NBCe1), at-least partially contribute to cellular Pi activity, and neutralize protons generated as the extracellular hydroxyapatite-based enamel matures. Disruption of phosphate handling reduces crystal growth and final mineral content of enamel, and produces hypomineralized or hypomature enamel with opacities, post-eruptive breakdown, and greater caries susceptibility. This review integrates multi-modal findings to appraise established features of ameloblast Pi handling, define constraints imposed by pH control and Ca transport, and identify gaps in ion transporter topology and trafficking dynamics. - Source: PubMed
Publication date: 2025/11/20
Zarinfar MehrnazAghazadeh MarziyehBapat Rucha ArunJi YanbinPaine Michael L - Lentiviral vectors (LVs) derived from HIV-1 are widely used in gene therapy, with several approved products. However, establishing stable cell lines for constitutive LV production remains a challenge due to the cytotoxicity of vector proteins, including some envelope glycoproteins used for pseudotyping. This study used CRISPR-Cas9 to tackle the fusogenicity-derived cytotoxicity of GaLVΔR and establish a stable cell line for constitutive LV production. By knocking out SLC20A1, the cellular receptor for GaLV, we established 293T SLC20A1 knockout (KO) cells, which support GaLVΔR expression without syncytia formation, while maintaining transient LV titers. Phenotypic characterization of these cells revealed a decrease in cell growth, which could be rescued upon SLC20A2 (a transporter of inorganic phosphate as SLC20A1) overexpression. Complementation studies confirmed the link between SLC20A1 deletion, syncytia resistance, and the reduced cell growth rate. Most importantly, SLC20A1-KO cells sustained GaLVΔR stable expression without syncytia formation. After stable integration of the remaining components required for LV production, these cells supported continuous LV production, achieving titers comparable to those of other stable producer cell lines. This work demonstrates the potential of receptor knockout strategies to express readily fusogenic envelopes and the successful application of SLC20A1-KO to establish cells stably expressing GaLVΔR in stable LV production. - Source: PubMed
Publication date: 2025/10/25
Nogueira Rodrigo JoséRodrigues Ana FilipaMestre Daniel AlexandreCoroadinha Ana Sofia