SLC16A4: Solute Carrier Family 16 Member 4
Monocarboxylate Transporter 5 (MCT5) – Gene Overview and Clinical Significance
Gene Information Card
| Symbol | SLC16A4 |
|---|---|
| Full Name | Solute Carrier Family 16 Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 9122 ncbi.nlm.nih.gov/gene/9122 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | O15374 |
| OMIM ID | 603878 |
| HGNC ID | 10924 |
| Aliases | MCT5, MCT 5, monocarboxylate transporter 5 |
Description
SLC16A4 (Solute Carrier Family 16 Member 4) encodes the monocarboxylate transporter 5 (MCT5), a proton-coupled transporter of monocarboxylates such as lactate, pyruvate, and ketone bodies. MCT5 is involved in cellular metabolism, pH regulation, and energy homeostasis. The gene is located on chromosome 1p13.3 and is expressed in various tissues, with highest levels in skeletal muscle, heart, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lactic acidosis (exercise-induced) | Impaired lactate transport due to SLC16A4 dysfunction may contribute to metabolic acidosis. | Limited; case reports and functional studies suggest association. |
| Cancer (metabolic reprogramming) | Altered MCT5 expression may affect lactate shuttling in tumor microenvironment. | Expression data from COSMIC and TCGA; functional studies ongoing. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Heart | 10.8 | High |
| Kidney | 8.3 | Medium |
| Liver | 3.1 | Low |
| Brain | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.7 | Medium expression |
| HepG2 | 4.5 | Low expression |
| SH-SY5Y | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.245C>T (p.Pro82Leu) | Missense | <0.01% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or literature.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Monocarboxylate transport (Reactome: R-HSA-433137)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
• Transport of small molecules (Reactome: R-HSA-382551)
Protein Summary
MCT5 (UniProt O15374) is a 12-transmembrane domain protein that facilitates proton-coupled transport of monocarboxylates across the plasma membrane. It is expressed in metabolically active tissues and plays a role in lactate efflux and uptake. The protein is localized to the plasma membrane and is involved in cellular pH and energy homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC16A4 Knockout HEK293 Cell Line | EDJ-KQ6471 | Human | 9122 | Details Get a Quote |
| SLC16A4 Knockout A-549 Cell Line | EDJ-KQ30565 | Human | 9122 | Details Get a Quote |
| SLC16A4 Knockout HeLa Cell Line | EDJ-KQ55089 | Human | 9122 | Details Get a Quote |
| SLC16A4 Knockout HCT 116 Cell Line | EDJ-KQ72036 | Human | 9122 | Details Get a Quote |
