Protein name: N/D Aliases: B0AT1, HND Substrates: neutral amino acids Transport type: N/D Tissue and cellular expression: intestine (duodenum, jejunum, ileum), stomach, kidney, liver, prostate Subcellular expression: N/D Disease: Hartnup disorder, hypertension?, hyperglycinuria Locus: 5p15.33 Sequence ID: NP_001003841.1, NM_001003841.2 Gene ID: 340024 Splice variants: N/D

S6A19_HUMAN (UniProt)

Gene names: SLC6A19, B0AT1
Protein names and data: S6A19_HUMAN, Full=Sodium-dependent neutral amino acid transporter B(0)AT1, Full=Solute carrier family 6 member 19;Full=System B(0) neutral amino acid transporter AT1; Length: 634 a.a., Mass: 71110 Da,
fasta formatted sequence

Function: Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium- dependent. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity)
Cellular location: Membrane; Multi-pass membrane protein (Probable)
Tissue specificity: Robust expression in kidney and small intestine, with minimal expression in pancreas. Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung

Database cross-references

UniProt: Q695T7
NextBio: 97667
OMIM: 138500 234500 242600 608893
Ensembl: ENST00000304460
GeneCard: GC05P001201
TCDB: 2.A.22.6.3
PharmGenUCSF: SLC6A19
Guide to Pharmacology: SLC6A19 (939)
Neutral amino acid transporter subfamily (939)

HGNC: HGNC:27960

Genetic variants

See also Ensembl:ENST00000304460