SLC13A5

SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.[supplied by OMIM

Full Name

solute carrier family 13 (sodium-dependent citrate transporter), member 5

Function

High-affinity sodium/citrate cotransporter that mediates the entry of citrate into cells, which is a critical participant of biochemical pathways (PubMed:12445824, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:33597751, PubMed:12826022).
May function in various metabolic processes in which citrate has a critical role such as energy production (Krebs cycle), fatty acid synthesis, cholesterol synthesis, glycolysis, and gluconeogenesis (PubMed:12826022).
Transports citrate into the cell in a Na+-dependent manner, recognizing the trivalent form of citrate (physiological pH) rather than the divalent form (PubMed:12445824, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:33597751, PubMed:12826022).
Can recognize succinate as a substrate, but its affinity for succinate is several fold lower than for citrate (PubMed:26324167).
The stoichiometry is probably 4 Na+ for each carboxylate, irrespective of whether the translocated substrate is divalent or trivalent, rendering the process electrogenic (PubMed:12445824, PubMed:12826022).
Involved in the regulation of citrate levels in the brain (By similarity).

Biological Process

Biological Process alpha-ketoglutarate transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process anion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cellular response to lithium ionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process citrate transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process fumarate transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process oxaloacetate transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process succinate transportManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Cell membrane

Involvement in disease

Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25):
An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients.