SLC7A14

SLC7A14
Identifiers
Aliases	SLC7A14, PPP1R142, solute carrier family 7 member 14
External IDs	MGI: 3040688 HomoloGene: 76320 GeneCards: SLC7A14
Gene ontology Molecular function • amino acid transmembrane transporter activity • L-amino acid transmembrane transporter activity • antiporter activity Cellular component • integral component of membrane • lysosomal membrane • lysosome • membrane • integral component of plasma membrane Biological process • negative regulation of phosphatase activity • amino acid transmembrane transport • amino acid transport • transport • L-amino acid transport • L-alpha-amino acid transmembrane transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57709	241919
Ensembl	ENSG00000013293	ENSMUSG00000069072
UniProt	Q8TBB6	Q8BXR1
RefSeq (mRNA)	NM_020949 NM_175917	NM_172861
RefSeq (protein)	NP_066000.2	NP_766449.1
Location (UCSC)	Chr 3: 170.46 – 170.59 Mb	Chr 3: 31.2 – 31.31 Mb
PubMed search	[1]	[2]
Wikidata

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Solute carrier family 7, member 14 is a protein that in humans is encoded by the SLC7A14 gene. ^[3]

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].

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "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 (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, J. P.; Lemke, M; Rupp, J; Gasnier, B; Closs, E. I. (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.