SLC6A20 Gene Summary [Human]
Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]
Details
| Type | Protein Coding |
| Official Symbol | SLC6A20 |
| Official Name | solute carrier family 6 member 20 [Source:HGNC Symbol;Acc:HGNC:30927] |
| Ensembl ID | ENSG00000163817 |
| Bio databases IDs | |
| Aliases | solute carrier family 6 member 20, sodium-dependent imino acid transporter 1 |
| Synonyms | AA986306, IMINO, rB21a, Sit1, Slc6a20a, Slc6a20b, solute carrier family 6 member 20, solute carrier family 6 member 20a, solute carrier family 6 (neurotransmitter transporter), member 20B, XT3, Xtrp3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC6A20 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- isoleucine transporter
- proline transporter
- Sodium:neurotransmitter symporter family
- protein binding
- Solute carrier families 5 and 6-like; solute binding domain
- solute:sodium symporter
- proline:sodium symporter
- amino acid transporter
- betaine transporter
- transporter
- neutral amino acid transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lung squamous cell carcinoma
- prostate cancer
- epithelial cancer
- COVID-19
- renal clear cell adenocarcinoma
- idiopathic perifoveal telangiectasia
- Hirschsprung disease
- endometrial adenocarcinoma
- endometrial adenocarcinoma formation
- colorectal carcinomagenesis
regulates
- N-methyl-L-proline
- amino acids
- glycine
- pipecolic acid
- L-proline
- 2,2-dimethyl-beta-alanine
- sarcosine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- apical membrane
- brush border
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC6A20 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycine transport
- betaine transport
- sodium ion transmembrane transport
- proline transport
- amino acid transport
Cellular Component
Where in the cell the gene product is active
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- L-isoleucine transmembrane transporter activity
- betaine transmembrane transporter activity
- neutral amino acid transmembrane transporter activity
- solute:sodium symporter activity
- L-proline transmembrane transporter activity
- amino acid transmembrane transporter activity
- proline:sodium symporter activity