SLC13A5

Last updated
SLC13A5
Identifiers
Aliases SLC13A5 , EIEE25, NACT, mIndy, solute carrier family 13 member 5, INDY, DEE25
External IDs OMIM: 608305 MGI: 3037150 HomoloGene: 21941 GeneCards: SLC13A5
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001143838
NM_001284509
NM_001284510
NM_177550

NM_001004148
NM_001372402
NM_001372403

RefSeq (protein)

NP_001137310
NP_001271438
NP_001271439
NP_808218

NP_001004148
NP_001359331
NP_001359332

Location (UCSC) Chr 17: 6.68 – 6.71 Mb Chr 11: 72.13 – 72.16 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Solute carrier family 13 (sodium-dependent citrate transporter), member 5 also known as the Na+/citrate cotransporter or mIndy is a protein that in humans is encoded by the SLC13A5 gene. [5] It is the mammalian homolog of the fly Indy gene.

Contents

Function

SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate. [5]

Clinical significance

In 2014, by means of exome sequencing it was determined that a genetic mutation of the SLC13A5 gene is the cause of an extremely rare citrate transporter disorder. [6] Mutations in SLC13A5 cause autosomal recessive epileptic encephalopathy with seizure onset in the first days of life. [6] Those afflicted suffer from seizures, global developmental delay, movement disorder and hypotonia.

Reduced expression of this gene is associated with longer lifespan in many organisms, including some non-human primates. Increased expression is associated with type 2 diabetes and non-alcoholic fatty liver disease. A sugary diet upregulates the expression of the gene, and so does Interleukin 6 signaling. [7]

Related Research Articles

Glucose transporter 1, also known as solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1), is a uniporter protein that in humans is encoded by the SLC2A1 gene. GLUT1 facilitates the transport of glucose across the plasma membranes of mammalian cells. This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. One good source of GLUT1 is erythrocyte membranes. GLUT1 accounts for 2 percent of the protein in the plasma membrane of erythrocytes. GLUT1, found in the plasma membrane of erythrocytes, is a classic example of a uniporter. After glucose is transported into the erythrocyte, it is rapidly phosphorylated, forming glucose-6-phosphate, which cannot leave the cell. Mutations in this gene can cause GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, idiopathic generalized epilepsy 12, dystonia 9, and stomatin-deficient cryohydrocytosis.

SLC22A5

SLC22A5 is a membrane transport protein associated with primary carnitine deficiency. This protein is involved in the active cellular uptake of carnitine. It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine. Such polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for the elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. Mutations in the SLC22A5 gene cause systemic primary carnitine deficiency, which can lead to heart failure.

Thiamine transporter 2

Thiamine transporter 2 (ThTr-2), also known as solute carrier family 19 member 3, is a protein that in humans is encoded by the SLC19A3 gene. SLC19A3 is a thiamine transporter.

Peptide transporter 1 Mammalian protein found in Homo sapiens

Peptide transporter 1 also known as solute carrier family 15 member 1 (SLC15A1) is a protein that in humans is encoded by SLC15A1 gene. PepT 1 is a solute carrier for oligopeptides. It functions in renal oligopeptide reabsorption and in the intestines in a proton dependent way, hence acting like a cotransporter.

Chloride anion exchanger Protein-coding gene in the species Homo sapiens

Chloride anion exchanger, also known as down-regulated in adenoma, is a protein that in humans is encoded by the SLC26A3 gene.

Sodium- and chloride-dependent creatine transporter 1 Protein-coding gene in the species Homo sapiens

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.

SLC22A3

Solute carrier family 22 member 3 (SLC22A3) also known as the organic cation transporter 3 (OCT3) or extraneuronal monoamine transporter (EMT) is a protein that in humans is encoded by the SLC22A3 gene.

Neutral amino acid transporter A

Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.

Sodium- and chloride-dependent glycine transporter 2

Sodium- and chloride-dependent glycine transporter 2, also known as glycine transporter 2 (GlyT2), is a protein that in humans is encoded by the SLC6A5 gene.

Sodium-dependent multivitamin transporter

Sodium-dependent multivitamin transporter is a protein that in humans is encoded by the SLC5A6 gene.

Sodium-dependent phosphate transport protein 2B

Sodium-dependent phosphate transport protein 2B (NaPi2b) is a protein that in humans is encoded by the SLC34A2 gene.

SLC6A14 Protein-coding gene in the species Homo sapiens

Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) (SLC6A14) is a protein that in humans is encoded by the SLC6A14 gene.

Sodium-coupled monocarboxylate transporter 1

Sodium-coupled monocarboxylate transporter 1 is a protein that in humans is encoded by the SLC5A8 gene.

SLC13A3

Solute carrier family 13 member 3 also called sodium-dependent dicarboxylate transporter (NaDC3) is a protein that in humans is encoded by the SLC13A3 gene.

SLC38A1

Sodium-coupled neutral amino acid transporter 1 is a protein that in humans is encoded by the SLC38A1 gene.

SLC13A2

Solute carrier family 13 member 2 is a protein that is encoded in humans by the SLC13A2 gene.

Tricarboxylate transport protein, mitochondrial Mammalian protein found in Homo sapiens

Tricarboxylate transport protein, mitochondrial, also known as tricarboxylate carrier protein and citrate transport protein (CTP), is a protein that in humans is encoded by the SLC25A1 gene. SLC25A1 belongs to the mitochondrial carrier gene family SLC25. High levels of the tricarboxylate transport protein are found in the liver, pancreas and kidney. Lower or no levels are present in the brain, heart, skeletal muscle, placenta and lung.

SLC6A18

Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the SLC6A18 gene.

SLC25A22

Solute carrier family 25 member 22 is a protein that in humans is encoded by the SLC25A22 gene. This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Expression of this gene is increased in colorectal tumor cells.

Solute carrier family 30 member 10 Protein-coding gene in the species Homo sapiens

Solute carrier family 30 member 10 is a protein that in humans is encoded by the SLC30A10 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000141485 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020805 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: Solute carrier family 13 (sodium-dependent citrate transporter), member 5".
  6. 1 2 Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, et al. (July 2014). "Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life". American Journal of Human Genetics. 95 (1): 113–20. doi:10.1016/j.ajhg.2014.06.006. PMC   4085634 . PMID   24995870.
  7. von Loeffelholz C, Lieske S, Neuschäfer-Rube F, Willmes DM, Raschzok N, Sauer IM, et al. (August 2017). "The human longevity gene homolog INDY and interleukin-6 interact in hepatic lipid metabolism". Hepatology. 66 (2): 616–630. doi:10.1002/hep.29089. PMC   5519435 . PMID   28133767.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.