SLC36A4: Solute Carrier Family 36 Member 4
A proton-coupled amino acid transporter involved in lysosomal and cellular amino acid homeostasis.
Gene Information Card
| Symbol | SLC36A4 |
|---|---|
| Full Name | Solute Carrier Family 36 Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q21 |
| NCBI Gene ID | 120103 ncbi.nlm.nih.gov/gene/120103 |
| Ensembl ID | ENSG00000149294 |
| UniProt ID | Q6YBV0 |
| OMIM ID | 613663 |
| HGNC ID | 19676 |
| Aliases | PAT4, MCCA-55673 |
Description
SLC36A4 (Solute Carrier Family 36 Member 4) encodes a proton-coupled amino acid transporter known as PAT4. It mediates the electrogenic symport of small neutral amino acids (e.g., proline, glycine, alanine) with H+ across cellular membranes. The protein is localized to lysosomal and plasma membranes and plays a role in amino acid sensing, mTOR signaling, and cellular growth. SLC36A4 is broadly expressed in human tissues, with highest levels in brain, kidney, and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (colorectal, breast, lung) | Overexpression of SLC36A4 enhances amino acid uptake and mTORC1 activation, promoting tumor growth and proliferation. | COSMIC, literature |
| Neurodevelopmental disorders | Rare missense variants identified in patients with intellectual disability; functional studies suggest impaired transporter activity. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Testis | 9.2 | Medium |
| Liver | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 8.7 | Moderate expression |
| HepG2 | 5.3 | Low expression |
| A549 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.0002 (gnomAD) | Reduced transport activity in vitro |
| c.452G>A (p.Arg151His) | Missense | 0.0001 (gnomAD) | Unknown functional effect |
| c.788T>C (p.Leu263Pro) | Missense | 0.00005 (gnomAD) | Predicted damaging (SIFT, PolyPhen) |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Thr34Met) show reduced amino acid uptake in cellular assays, consistent with loss of transporter function.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC36A4.
Dominant Negative (DN)
No dominant-negative mechanisms described for SLC36A4.
View complete mutation data：
Gene Ontology (GO)
| • amino acid:proton symporter activity (GO:0005280) | • amino acid transmembrane transporter activity (GO:0015171) |
| • symporter activity (GO:0015293) | • lysosome (GO:0005764) |
| • integral component of membrane (GO:0016021) | • amino acid transport (GO:0006865) |
| • cellular response to amino acid stimulus (GO:0035729) |
Pathways
• Amino acid transport across plasma membrane (Reactome: R-HSA-352230)
• Lysosomal amino acid transport (Reactome: R-HSA-210991)
• mTORC1 signaling (Reactome: R-HSA-165159)
Protein Summary
SLC36A4 (PAT4) is a 483-amino acid transmembrane protein with 11 predicted helices. It functions as a proton-coupled symporter for small neutral amino acids, localized to lysosomal and plasma membranes. The protein is involved in amino acid sensing and mTORC1 activation, linking nutrient availability to cell growth. Structural studies indicate a conserved transport mechanism among the SLC36 family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC36A4 Knockout HEK293 Cell Line | EDJ-KQ7657 | Human | 120103 | Details Get a Quote |
| SLC36A4 Knockout A-549 Cell Line | EDJ-KQ33013 | Human | 120103 | Details Get a Quote |
| SLC36A4 Knockout HCT 116 Cell Line | EDJ-KQ33014 | Human | 120103 | Details Get a Quote |
| SLC36A4 Knockout HeLa Cell Line | EDJ-KQ33015 | Human | 120103 | Details Get a Quote |
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