SLC36A1: Proton-coupled amino acid transporter 1
Solute carrier family 36 member 1 – a lysosomal amino acid transporter involved in nutrient sensing and mTORC1 signaling
Gene Information Card
| Symbol | SLC36A1 |
|---|---|
| Full Name | solute carrier family 36 member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 206358 ncbi.nlm.nih.gov/gene/206358 |
| Ensembl ID | ENSG00000123643 |
| UniProt ID | Q9H598 |
| OMIM ID | 606561 |
| HGNC ID | 18763 |
| Aliases | PAT1, LYAAT1, TRAMD3 |
Description
SLC36A1 encodes the proton-coupled amino acid transporter 1 (PAT1), a lysosomal membrane protein that mediates the symport of small neutral amino acids (e.g., glycine, alanine, proline) with H+ ions. It plays a critical role in amino acid efflux from lysosomes, thereby regulating mTORC1 signaling and cellular nutrient sensing. The gene is located on chromosome 5q33.1 and is expressed in multiple tissues, with highest levels in brain, kidney, and intestine.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperekplexia (startle disease) | Impaired glycine transport in inhibitory synapses; SLC36A1 variants may contribute to glycinergic dysfunction. | PMID: 25683120; ClinVar |
| Colorectal cancer | Altered PAT1 expression affects mTORC1 activity and tumor cell proliferation. | COSMIC; PMID: 29262307 |
| Autism spectrum disorder | Rare missense variants identified in patients; potential impact on synaptic amino acid homeostasis. | ClinVar; PMID: 27535533 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 18.3 | Medium |
| Small intestine | 22.1 | High |
| Liver | 6.2 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Endogenous expression |
| HeLa | 8.7 | Moderate |
| Caco-2 | 25.4 | High (intestinal model) |
| SH-SY5Y | 11.0 | Neuronal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Reduced glycine transport activity |
| c.454C>T (p.Arg152Trp) | Missense | <0.01% | Altered pH sensitivity |
| c.788_789del (p.Leu263fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein or impair transport activity.
Gain of Function (GOF)
Not described in literature.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005283 – amino acid:proton symporter activity | • GO:0015171 – amino acid transmembrane transporter activity |
| • GO:0005764 – lysosome | • GO:0016021 – integral component of membrane |
| • GO:0032006 – regulation of TOR signaling |
Pathways
• R-HSA-1666589 – Amino acid transport across the lysosomal membrane
• R-HSA-165159 – mTORC1-mediated signaling
• WP3925 – Amino acid metabolism
Protein Summary
PAT1 (SLC36A1) is a 476-amino acid lysosomal membrane protein with 11 transmembrane domains. It functions as a proton-coupled symporter for small neutral amino acids, exporting them from the lysosome to the cytosol. This export is essential for maintaining amino acid homeostasis and activating mTORC1, a master regulator of cell growth. PAT1 is also implicated in synaptic glycine clearance and may influence neuronal excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC36A1 Knockout HEK293 Cell Line | EDJ-KQ6515 | Human | 206358 | Details Get a Quote |
| SLC36A1 Knockout HCT 116 Cell Line | EDC07739 | Human | 206358 | Details Get a Quote |
| SLC36A1 Knockout A-549 Cell Line | EDJ-KQ30662 | Human | 206358 | Details Get a Quote |
| SLC36A1 Knockout HeLa Cell Line | EDJ-KQ30663 | Human | 206358 | Details Get a Quote |
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