| SLC13A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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 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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000141485 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020805 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Solute carrier family 13 (sodium-dependent citrate transporter), member 5".
- ^ a b 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.
- ^ 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". Pflügers 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): 465–71. doi: 10.1016/S0006-291X(02)02669-4. PMID 12445824.
- Gopal E, Miyauchi S, Martin PM, Ananth S, Srinivas SR, Smith SB, Prasad PD, Ganapathy V (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): G402-8. doi: 10.1152/ajpgi.00371.2006. PMID 16973915. S2CID 18725925.
- Benjamin DJ, Cesarini D, van der Loos MJ, Dawes CT, Koellinger PD, Magnusson PK, Chabris CF, Conley D, Laibson D, Johannesson M, Visscher PM (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): 8026–31. 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): 21–6. 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.
 | This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it. |
| SLC13A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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 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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000141485 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020805 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Solute carrier family 13 (sodium-dependent citrate transporter), member 5".
- ^ a b 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.
- ^ 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". Pflügers 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): 465–71. doi: 10.1016/S0006-291X(02)02669-4. PMID 12445824.
- Gopal E, Miyauchi S, Martin PM, Ananth S, Srinivas SR, Smith SB, Prasad PD, Ganapathy V (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): G402-8. doi: 10.1152/ajpgi.00371.2006. PMID 16973915. S2CID 18725925.
- Benjamin DJ, Cesarini D, van der Loos MJ, Dawes CT, Koellinger PD, Magnusson PK, Chabris CF, Conley D, Laibson D, Johannesson M, Visscher PM (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): 8026–31. 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): 21–6. 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.
|
| This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it. |