Sodium-dependent neutral amino acid transporter B(0)AT1

Sodium-dependent neutral amino acid transporter B(0)AT1 is a protein that in humans is encoded by the SLC6A19 gene.^[5]

SLC6A19
Identifiers
Aliases	SLC6A19, B0AT1, HND, solute carrier family 6 member 19
External IDs	OMIM: 608893; MGI: 1921588; HomoloGene: 52819; GeneCards: SLC6A19; OMA:SLC6A19 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5p15.33 Start 1,201,595 bp[1] End 1,225,111 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 C1 Start 73,827,864 bp[2] End 73,852,984 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum jejunal mucosa duodenum human kidney renal medulla rectum mucosa of colon gallbladder mucosa of sigmoid colon renal cortex Top expressed in jejunum ileum right kidney human kidney epithelium of small intestine lumbar spinal ganglion duodenum esophagus lip Paneth cell More reference expression data BioGPS n/a
Gene ontology Molecular function neurotransmitter:sodium symporter activity neutral amino acid transmembrane transporter activity symporter activity amino acid transmembrane transporter activity protein binding Cellular component integral component of membrane brush border membrane plasma membrane integral component of plasma membrane extracellular exosome membrane apical plasma membrane Biological process neurotransmitter transport amino acid transport neutral amino acid transport response to nutrient transmembrane transport amino acid transmembrane transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 340024 74338 Ensembl ENSG00000174358 ENSMUSG00000021565 UniProt Q695T7 Q9D687 RefSeq (mRNA) NM_001003841 NM_028878 NM_001359603 RefSeq (protein) NP_001003841 NP_083154 NP_001346532 Location (UCSC) Chr 5: 1.2 – 1.23 Mb Chr 13: 73.83 – 73.85 Mb PubMed search [3] [4]
Wikidata
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Function

SLC6A19 is a system B(0) transporter that mediates epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine.^[6][7]

Clinical significance

Mutations in the SLC6A19 gene cause Hartnup disease.^[5][8]