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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC20A1
solute carrier family 20 member 1
Chromosome 2 · 2q14.1
NCBI Gene: 6574Ensembl: ENSG00000144136.12HGNC: HGNC:10946UniProt: A7LNJ1
77PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sodium:phosphate symporter activitycell population proliferationpositive regulation of canonical NF-kappaB signal transductionplasma membraneneurodegenerative diseaseprostate carcinomaneoplasmBlackfan-Diamond anemia
✦AI Summary

SLC20A1 (PiT1) is a sodium-dependent inorganic phosphate cotransporter with dual roles in phosphate homeostasis and cellular signaling. As a primary function, SLC20A1 mediates phosphate uptake across the plasma membrane 1 and is dynamically regulated by phosphate availability, with protein expression induced during phosphate starvation through post-transcriptional mechanisms involving ESCRT-mediated degradation under phosphate-replete conditions 1. Beyond phosphate transport, SLC20A1 functions as a retroviral receptor for Gibbon Ape Leukemia Virus and other retroviruses, and serves as the cellular receptor for syncytin-B, an endogenous retroviral envelope protein essential for mouse placental syncytiotrophoblast formation 2. In the nervous system, SLC20A1 independently promotes synaptic plasticity and cognition through mechanisms distinct from phosphate transport, likely involving Otoferlin-dependent regulation of GABAergic synaptic vesicle trafficking 3. Disease relevance includes associations with combined pituitary hormone deficiency and cognitive disorders 4, while computational studies identify missense variants (C573F, T58A) as deleterious 4. Clinically, SLC20A1 overexpression correlates with poor prognosis in head and neck squamous cell carcinoma, predicting aggressive cellular behaviors and chemotherapy response 5. Additionally, SLC20A1 serves as a validated diagnostic biomarker for preeclampsia 6 and mediates intestinal Lactobacillus attachment affecting oncolytic virotherapy efficacy 7.

Sources cited
1
SLC20A1 (PiT-1) promotes synaptic plasticity and cognition through Otoferlin-dependent regulation of GABAergic synaptic vesicle trafficking, independent of phosphate transport function
PMID: 38195526
2
SLC20A1 is identified as a validated diagnostic biomarker for preeclampsia with AUC of 0.811
PMID: 39544937
3
SLC20A1/PiT1 is massively induced by phosphate starvation and is immediately destroyed under basal phosphate-replete conditions, suggesting a novel regulatory mechanism
PMID: 38572729
4
Missense SNPs in SLC20A1 (C573F, T58A) are identified as high-risk deleterious variants associated with Combined Pituitary Hormone Deficiency and cause structural perturbations
PMID: 37286379
5
SLC20A1 overexpression in head and neck squamous cell carcinoma correlates with advanced T stage, poor prognosis, and increased cellular proliferation, migration, and invasion
PMID: 38412319
6
SLC20A1/PiT1 functions as the cellular receptor for syncytin-B, mediating syncytiotrophoblast layer formation in mouse placenta development
PMID: 39287391
7
SLC20A1 in intestinal epithelial cells binds to Lactobacillus acidophilus CdpA protein and regulates bacterial colonization, affecting oncolytic virotherapy response
PMID: 40195307
8
SLC20A1 protein abundance is controlled post-transcriptionally through ESCRT-mediated degradation in phosphate-replete cells, with protein expression induced upon phosphate starvation
PMID: 35447110
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
prostate carcinomaOpen Targets
0.26Weak
neoplasmOpen Targets
0.12Weak
Blackfan-Diamond anemiaOpen Targets
0.10Suggestive
adenomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
ThymomaOpen Targets
0.08Suggestive
hemoglobin D diseaseOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.07Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.07Suggestive
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.07Suggestive
hemoglobin E diseaseOpen Targets
0.07Suggestive
dominant beta-thalassemiaOpen Targets
0.07Suggestive
Heinz body anemiaOpen Targets
0.07Suggestive
delta-beta-thalassemiaOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAD1Protein interaction83%SLC20A2Protein interaction53%SLC34A3Shared pathway44%SLC17A2Shared pathway38%SLC34A2Shared pathway30%SLC17A4Shared pathway30%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
40%
Liver
38%
Brain
29%
Heart
12%
Ovary
11%
Gene Interaction Network
Click a node to explore
SLC20A1RAD1SLC20A2SLC34A3SLC17A2SLC34A2SLC17A4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WUM9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.46 [0.34–0.63]
RankingsWhere SLC20A1 stands among ~20K protein-coding genes
  • #6,207of 20,598
    Most Researched77
  • #4,504of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedSLC20A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Slc20a1 and Slc20a2 regulate neuronal plasticity and cognition independently of their phosphate transport ability.
PMID: 38195526
Cell Death Dis · 2024
1.00
2
Development and validation of preeclampsia predictive models using key genes from bioinformatics and machine learning approaches.
PMID: 39544937
Front Immunol · 2024
0.90
3
Phosphate sensing in health and disease.
PMID: 38572729
Curr Opin Nephrol Hypertens · 2024
0.80
4
Computational analysis of sodium-dependent phosphate transporter SLC20A1/PiT1 gene identifies missense variations C573F, and T58A as high-risk deleterious SNPs.
PMID: 37286379
J Biomol Struct Dyn · 2024
0.70
5
SLC20A1 is a prospective prognostic and therapy response predictive biomarker in head and neck squamous cell carcinoma.
PMID: 38412319
Aging (Albany NY) · 2024
0.60