SLC20A1

Chr 2q14.1

solute carrier family 20 member 1

Aliases:: PiT-1, Glvr-1, PiT1
MANE:: ENST00000272542.8

OMIM: 137570 ↗NCBI: 6574 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC20A1 · Q8WUM9

v62025-08-01

Predicted Aligned Error matrix for SLC20A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.3/ 100

Confident

679 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)14%
Low(50–70)3%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency
Unknown

Disease associations (Open Targets)

neurodegenerative disease
0.32
prostate carcinoma
0.24
head and neck squamous cell carcinoma
0.07
colorectal carcinoma
0.07
Congenital dyserythropoietic anemia type I
0.07
hereditary spherocytosis
0.07
dominant beta-thalassemia
0.07
hereditary elliptocytosis
0.06
hemoglobin C-beta-thalassemia syndrome
0.06
Hemoglobin C - beta-thalassemia
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium-dependent phosphate transporter 1

Sodium-phosphate symporter which preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion (PubMed:11009570, PubMed:16790504, PubMed:17494632, PubMed:19726692, PubMed:7929240, PubMed:8041748). May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification (PubMed:11009570). Essential for cell proliferation but this function is independent of its phosphate transporter activity (PubMed:19726692)