SLC36A3
Solute Carrier Family 36 Member 3
Gene Information Card
| Symbol | SLC36A3 |
|---|---|
| Full Name | Solute Carrier Family 36 Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 123920 ncbi.nlm.nih.gov/gene/123920 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q8N6M5 |
| OMIM ID | 608331 |
| HGNC ID | 19678 |
| Aliases | PAT3, TRAMD3 |
Description
SLC36A3 encodes a member of the solute carrier family 36 (proton-coupled amino acid transporter) family. The encoded protein functions as a proton-coupled amino acid symporter, transporting small amino acids such as glycine, alanine, and proline across cellular membranes. It is primarily expressed in the kidney and may play a role in amino acid reabsorption.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperglycinuria | Defective glycine reabsorption due to SLC36A3 dysfunction | PMID: 23352259 |
| Renal aminoaciduria | Impaired transport of small neutral amino acids in kidney | PMID: 23352259 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 3.2 | Low |
| Brain | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.8 | Low expression |
| HepG2 | 0.5 | Not detected |
| A549 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown |
| c.200G>A (p.Gly67Asp) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not established for SLC36A3
Gain of Function (GOF)
Not established for SLC36A3
Dominant Negative (DN)
Not established for SLC36A3
View complete mutation data：
Gene Ontology (GO)
| • amino acid:proton symporter activity (GO:0005283) | • amino acid transmembrane transporter activity (GO:0015171) |
| • symporter activity (GO:0015293) | • organic acid transport (GO:0015849) |
| • integral component of membrane (GO:0016021) |
Pathways
• Proton-coupled amino acid transport
• SLC-mediated transmembrane transport
Protein Summary
The SLC36A3 protein is a proton-coupled amino acid symporter (PAT3) that mediates the uptake of small neutral amino acids such as glycine, alanine, and proline. It is localized to the plasma membrane and is highly expressed in the kidney, where it contributes to amino acid reabsorption from the glomerular filtrate.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC36A3 Knockout HEK293 Cell Line | EDJ-KQ15336 | Human | 285641 | Details Get a Quote |
| SLC36A3 Knockout HeLa Cell Line | EDJ-KQ59524 | Human | 285641 | Details Get a Quote |
| SLC36A3 Knockout A-549 Cell Line | EDJ-KQ67993 | Human | 285641 | Details Get a Quote |
| SLC36A3 Knockout HCT 116 Cell Line | EDJ-KQ76371 | Human | 285641 | Details Get a Quote |
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