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)
End	6,713,377 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	72,158,048 bp
RNA expression pattern
	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
	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
	284111
	237831
	ENSG00000141485
	ENSMUSG00000020805
	Q86YT5
	Q67BT3
	NM_001143838; NM_001284509; NM_001284510; NM_177550
	NM_001004148; NM_001372402; NM_001372403
	NP_001137310; NP_001271438; NP_001271439; NP_808218
	NP_001004148; NP_001359331; NP_001359332
	Wikidata
View/Edit Human	View/Edit Mouse

Solute carrier family 13 (sodium-dependent citrate transporter), member 5 also known as the Na⁺/citrate cotransporter is a protein that in humans is encoded by the SLC13A5 gene.^[5]

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.

The site www.citratetransporterdisorders.org aims to unite families, doctors and researchers in their efforts to find treatment options.

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 http://www.cell.com/ajhg/abstract/S0002-9297%2814%2900268-7

Pajor, A. M. (2005). "Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters". Pflügers Archiv - European Journal of Physiology. 451 (5): 597–605. doi:10.1007/s00424-005-1487-2. PMC 1866268. PMID 16211368.
Inoue, K.; Zhuang, L.; Ganapathy, V. (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, P. M.; Ananth, S.; Srinivas, S. R.; Smith, S. B.; Prasad, P. D.; Ganapathy, V. (2006). "Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines". AJP: Gastrointestinal and Liver Physiology. 292 (1): G402–G408. doi:10.1152/ajpgi.00371.2006. PMID 16973915.
Benjamin, D. J.; Cesarini, D.; Van Der Loos, M. J. H. M.; Dawes, C. T.; Koellinger, P. D.; Magnusson, P. K. E.; Chabris, C. F.; Conley, D.; Laibson, D.; Johannesson, M.; Visscher, P. M. (2012). "The genetic architecture of economic and political preferences". Proceedings of the National Academy of Sciences. 109 (21): 8026–8031. doi:10.1073/pnas.1120666109. PMC 3361436. PMID 22566634.
Inoue, K.; Zhuang, L.; Maddox, D. M.; Smith, S. B.; Ganapathy, V. (2003). "Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action". Biochemical Journal. 374 (Pt 1): 21–26. doi:10.1042/BJ20030827. PMC 1223593. PMID 12826022.

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000141485 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: Solute carrier family 13 (sodium-dependent citrate transporter), member 5".

[cell.com-6] ttp://www.cell.com/ajhg/abstract/S0002-9297%2814%2900268-7

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Function

Clinical significance

References

Further reading