SLC13A5

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; OMA:SLC13A5 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17p13.1 Start 6,684,719 bp [1] End 6,713,377 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 B4 Start 72,132,815 bp [2] End 72,158,048 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver parotid gland tibia nucleus accumbens gonad right frontal lobe caudate nucleus cingulate gyrus anterior cingulate cortex Brodmann area 9 Top expressed in calvaria molar spermatocyte body of femur spermatid seminiferous tubule stria vascularis fossa lumbar subsegment of spinal cord embryo More reference expression data BioGPS n/a
Gene ontology Molecular function transporter activity tricarboxylic acid transmembrane transporter activity symporter activity succinate transmembrane transporter activity sodium:dicarboxylate symporter activity citrate transmembrane transporter activity Cellular component integral component of membrane integral component of plasma membrane membrane plasma membrane Biological process tricarboxylic acid transport succinate transmembrane transport ion transport succinate transport sodium ion transport transmembrane transport tricarboxylic acid transmembrane transport citrate transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 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.

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 gene is the cause of a rare SLC13A5 Epilepsy. ^[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 homologous genes is associated with longer lifespan in Drosophila melanogaster and Caenorhabditis elegans, ^{[7] [8]} and obesity protection in laboratory mice. ^[9] 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. ^[10]

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): 113–120. doi:10.1016/j.ajhg.2014.06.006. PMC   4085634 . PMID   24995870.
7. Rogina B, Reenan RA, Nilsen SP, Helfand SL (December 2000). "Extended life-span conferred by cotransporter gene mutations in Drosophila". Science. 290 (5499): 2137–2140. Bibcode:2000Sci...290.2137R. doi:10.1126/science.290.5499.2137. PMID   11118146.
8. Fei YJ, Liu JC, Inoue K, Zhuang L, Miyake K, Miyauchi S, et al. (April 2004). "Relevance of NAC-2, an Na+-coupled citrate transporter, to life span, body size and fat content in Caenorhabditis elegans". The Biochemical Journal. 379 (Pt 1): 191–198. doi:10.1042/bj20031807. PMC   1224044 . PMID   14678010.
9. Birkenfeld AL, Lee HY, Guebre-Egziabher F, Alves TC, Jurczak MJ, Jornayvaz FR, et al. (August 2011). "Deletion of the mammalian INDY homolog mimics aspects of dietary restriction and protects against adiposity and insulin resistance in mice". Cell Metabolism. 14 (2): 184–195. doi:10.1016/j.cmet.2011.06.009. PMC   3163140 . PMID   21803289.
10. 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

• Pajor AM (February 2006). "Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters". Pflugers Archiv. 451 (5): 597–605. doi:10.1007/s00424-005-1487-2. PMC   1866268 . PMID   16211368.
• Inoue K, Zhuang L, Ganapathy V (December 2002). "Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function". Biochemical and Biophysical Research Communications. 299 (3): 465–471. doi:10.1016/S0006-291X(02)02669-4. PMID   12445824.
• Gopal E, Miyauchi S, Martin PM, Ananth S, Srinivas SR, Smith SB, et al. (January 2007). "Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines". American Journal of Physiology. Gastrointestinal and Liver Physiology. 292 (1): G402 –G408. doi:10.1152/ajpgi.00371.2006. PMID   16973915. S2CID   18725925.
• Benjamin DJ, Cesarini D, van der Loos MJ, Dawes CT, Koellinger PD, Magnusson PK, et al. (May 2012). "The genetic architecture of economic and political preferences". Proceedings of the National Academy of Sciences of the United States of America. 109 (21): 8026–8031. Bibcode:2012PNAS..109.8026B. doi: 10.1073/pnas.1120666109 . PMC   3361436 . PMID   22566634.
• Inoue K, Zhuang L, Maddox DM, Smith SB, Ganapathy V (August 2003). "Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action". The Biochemical Journal. 374 (Pt 1): 21–26. doi:10.1042/BJ20030827. PMC   1223593 . PMID   12826022.

External links

• tessresearch.org - A foundation dedicated to SLC13A5 disorders.

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