SLC7A14

Solute carrier family 7, member 14 is a protein that in humans is encoded by the SLC7A14 gene. [5]

SLC7A14
Identifiers
Aliases	SLC7A14, PPP1R142, solute carrier family 7 member 14
External IDs	OMIM: 615720 MGI: 3040688 HomoloGene: 76320 GeneCards: SLC7A14
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q26.2 Start 170,459,548 bp[1] End 170,586,075 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 A3 Start 31,202,858 bp[2] End 31,310,378 bp[2]
Gene ontology Molecular function • GO:0022891 transmembrane transporter activity Cellular component • integral component of membrane • lysosomal membrane • lysosome • membrane Biological process • negative regulation of phosphatase activity • amino acid transport • 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	NP_766449
Location (UCSC)	Chr 3: 170.46 – 170.59 Mb	Chr 3: 31.2 – 31.31 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000013293 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000069072 - 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 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.