SLC13A5

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.

SLC13A5
Identifiers
AliasesSLC13A5, EIEE25, NACT, mIndy, solute carrier family 13 member 5, INDY, DEE25
External IDsOMIM: 608305 MGI: 3037150 HomoloGene: 21941 GeneCards: SLC13A5
Orthologs
SpeciesHumanMouse
Entrez

284111

237831

Ensembl

ENSG00000141485

ENSMUSG00000020805

UniProt

Q86YT5

Q67BT3

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 MbChr 11: 72.13 – 72.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 a 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]

References
  1. GRCh38: Ensembl release 89: ENSG00000141485 - Ensembl, May 2017
  2. 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. "Entrez Gene: Solute carrier family 13 (sodium-dependent citrate transporter), member 5".
  6. 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.

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