SLC7A14

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 31,257,007 bp[2] End 31,364,527 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar vermis postcentral gyrus Brodmann area 46 middle temporal gyrus superior frontal gyrus pons superior vestibular nucleus entorhinal cortex Brodmann area 23 prefrontal cortex Top expressed in superior cervical ganglion facial motor nucleus dorsomedial hypothalamic nucleus pontine nuclei ventromedial nucleus medial vestibular nucleus dentate gyrus lateral hypothalamus anterior horn of spinal cord substantia nigra More reference expression data BioGPS n/a
Gene ontology Molecular function 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: 31.26 – 31.36 Mb PubMed search [3] [4]
Wikidata
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Solute carrier family 7, member 14 is a protein that in humans is encoded by the SLC7A14 gene. ^[5]

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, photoreceptor cells, hair cells and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. 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. The gene is also highly expressed in all vertebrate hair cells. In the mammalian inner ear, this gene is expressed in neonatal inner and outer hair cells during development and becomes specifically expressed in inner hair cells in adult animals ^[6], ^[7].Mutations in this gene are associated with autosomal recessive retinitis pigmentosa and hearing loss in the form of auditory neuropathy.

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.