SLC13A5
Solute Carrier Family 13 Member 5 (Sodium-Coupled Citrate Transporter)
Gene Information Card
| Symbol | SLC13A5 |
|---|---|
| Full Name | Solute Carrier Family 13 Member 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 284111 ncbi.nlm.nih.gov/gene/284111 |
| Ensembl ID | ENSG00000141485 |
| UniProt ID | Q86YT5 |
| OMIM ID | 608305 |
| HGNC ID | 23089 |
| Aliases | NaCT, SLC13A5, solute carrier family 13 (sodium-dependent citrate transporter), member 5 |
Description
SLC13A5 encodes the sodium-coupled citrate transporter (NaCT), a plasma membrane protein that mediates the electrogenic cotransport of citrate and sodium ions. It is primarily expressed in the liver, brain, and testis, and plays a critical role in cellular citrate uptake, energy metabolism, and lipid biosynthesis. Mutations in SLC13A5 cause autosomal recessive early infantile epileptic encephalopathy-25 (EIEE25), characterized by seizures, developmental delay, and hypomyelination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Early infantile epileptic encephalopathy 25 (EIEE25) | Loss-of-function mutations impair citrate uptake in neurons, leading to altered energy metabolism and neurotransmitter synthesis | ClinVar, OMIM |
| Hypomyelination and developmental delay | Defective citrate transport disrupts myelin lipid synthesis in oligodendrocytes | OMIM, PubMed |
| SLC13A5 deficiency | Biallelic pathogenic variants result in complete loss of transporter activity | ClinVar, HGNC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Brain | 8.3 | Medium |
| Testis | 6.1 | Medium |
| Kidney | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte model |
| SH-SY5Y | 7.5 | Neuronal model |
| HEK293 | 3.1 | Embryonic kidney |
| U-87 MG | 2.0 | Glioblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.655G>A (p.Gly219Arg) | Missense | Rare | Loss of function; reduced citrate transport |
| c.1270C>T (p.Arg424*) | Nonsense | Rare | Premature truncation; complete loss of function |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Impaired trafficking to plasma membrane |
| c.1175_1176del (p.Leu392Profs*12) | Frameshift | Rare | Null allele; no protein expression |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic SLC13A5 mutations are loss-of-function, reducing or abolishing citrate transport activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC13A5.
Dominant Negative (DN)
No dominant-negative effects have been described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015137 – citrate transmembrane transporter activity | • GO:0015293 – symporter activity |
| • GO:0006814 – sodium ion transport | • GO:0015746 – citrate transport |
| • GO:0005887 – integral component of plasma membrane |
Pathways
• Citrate cycle (TCA cycle)
• SLC-mediated transmembrane transport
• Metabolism of lipids and lipoproteins
Protein Summary
The SLC13A5 protein (NaCT) is a 572-amino acid multi-pass transmembrane protein belonging to the SLC13 family of sodium-coupled dicarboxylate/citrate transporters. It contains 11 transmembrane domains and functions as a homodimer. NaCT mediates the electrogenic symport of citrate with three sodium ions, with a Km for citrate of approximately 20 µM. The protein is essential for cellular citrate homeostasis, particularly in neurons and hepatocytes, where it supports energy production and lipid synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC13A5 Knockout HEK293 Cell Line | EDJ-KQ15296 | Human | 284111 | Details Get a Quote |
| SLC13A5 Knockout HeLa Cell Line | EDJ-KQ59437 | Human | 284111 | Details Get a Quote |
| SLC13A5 Knockout A-549 Cell Line | EDJ-KQ67900 | Human | 284111 | Details Get a Quote |
| SLC13A5 Knockout HCT 116 Cell Line | EDJ-KQ76280 | Human | 284111 | Details Get a Quote |
| SLC13A5 Knockout Huh-7 Cell Line | EDC07838 | Human | 284111 | Details Get a Quote |
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