SLC7A14: Difference between revisions
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== Function == | == Function == | ||
This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]. | This gene is predicted to encode a [[glycosylated]], cationic amino acid [[transporter protein]] with 14 transmembrane domains. This gene is primarily expressed in skin [[fibroblasts]], [[neural tissue]]e, and primary [[endothelial cells]] and its protein is predicted to mediate [[lysosomal]] uptake of cationic amino acids. [[Mutations]] in this gene are associated with autosomal recessive [[retinitis pigmentosa]]. In mice, this gene is expressed in the [[photoreceptor cell|photoreceptor]] layer of the [[retina]] where its [[gene expression|expression]] increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]. | ||
== References == | == References == | ||
Latest revision as of 19:04, 20 February 2018
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| External IDs | GeneCards: [1] | ||||||
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| Species | Human | Mouse | |||||
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| Location (UCSC) | n/a | n/a | |||||
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Solute carrier family 7, member 14 is a protein that in humans is encoded by the SLC7A14 gene. [1]
Function
This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissuee, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014].
References
- ↑ "Entrez Gene: Solute carrier family 7, member 14". Retrieved 2014-08-12.
Further reading
- Hendrickx A, Beullens M, Ceulemans H, Den Abt T, Van Eynde A, Nicolaescu E, Lesage B, Bollen M (April 2009). "Docking motif-guided mapping of the interactome of protein phosphatase-1". Chemistry & Biology. 16 (4): 365–71. doi:10.1016/j.chembiol.2009.02.012. PMID 19389623.
- Jaenecke I, Boissel JP, Lemke M, Rupp J, Gasnier B, Closs EI (August 2012). "A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport". The Journal of Biological Chemistry. 287 (36): 30853–60. doi:10.1074/jbc.M112.350322. PMC 3436328. PMID 22787143.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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