SLC6A20
Solute Carrier Family 6 Member 20
Gene Information Card
| Symbol | SLC6A20 |
|---|---|
| Full Name | solute carrier family 6 member 20 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000163827 |
| UniProt ID | Q9NP91 |
| OMIM ID | 605616 |
| HGNC ID | 11019 |
| Aliases | SIT1, XT3, IMINO, FLJ20366 |
Description
SLC6A20 encodes a sodium- and chloride-dependent transporter that mediates the uptake of proline, hydroxyproline, and other imino acids. It is also a receptor for the human coronavirus HCoV-229E. The protein is expressed in kidney, intestine, and brain, and plays a role in renal iminoglycinuria and glycine encephalopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Iminoglycinuria | Defective renal reabsorption of proline and glycine due to SLC6A20 loss-of-function variants | ClinVar, OMIM |
| Hyperglycinuria | Impaired glycine transport in kidney tubules | ClinVar |
| Coronavirus HCoV-229E infection | SLC6A20 acts as a cellular receptor for viral entry | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Small intestine | 8.3 | Medium |
| Brain | 5.1 | Medium |
| Liver | 1.2 | Low |
| Heart | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| Caco-2 | 9.7 | Medium expression |
| SH-SY5Y | 4.3 | Low expression |
| HepG2 | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1195C>T (p.Arg399*) | Nonsense | <0.01% | Loss of function; associated with iminoglycinuria |
| c.740G>A (p.Gly247Asp) | Missense | <0.01% | Reduced transport activity |
| c.1666C>T (p.Arg556Trp) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or reduced transport activity; associated with iminoglycinuria.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • sodium:amino acid symporter activity (GO:0005283) | • neutral amino acid transmembrane transporter activity (GO:0015175) |
| • glycine transmembrane transporter activity (GO:0015187) | • symporter activity (GO:0015293) |
| • integral component of plasma membrane (GO:0005887) | • integral component of membrane (GO:0016021) |
| • sodium ion transport (GO:0006814) | • neutral amino acid transport (GO:0015804) |
| • glycine transport (GO:0015816) | • proline transport (GO:0015824) |
Pathways
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)
Protein Summary
SLC6A20 (SIT1) is a 656-amino acid transmembrane protein with 12 putative transmembrane domains. It functions as a sodium- and chloride-dependent symporter for imino acids (proline, hydroxyproline) and glycine. The protein is highly expressed in kidney proximal tubules and intestinal brush border, where it mediates reabsorption. It also serves as the receptor for human coronavirus HCoV-229E. Mutations cause iminoglycinuria and hyperglycinuria.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A20 Knockout HEK293 Cell Line | EDJ-KQ15286 | Human | 54716 | Details Get a Quote |
| SLC6A20 Knockout HCT 116 Cell Line | EDJ-KQ45984 | Human | 54716 | Details Get a Quote |
| SLC6A20 Knockout HeLa Cell Line | EDJ-KQ56460 | Human | 54716 | Details Get a Quote |
| SLC6A20 Knockout A-549 Cell Line | EDJ-KQ64953 | Human | 54716 | Details Get a Quote |
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