Protein name: rBAT Aliases: NBAT, D2H Substrates: system b0,+, heterodimerizes with light subunit SLC7A9 Transport type: Exchanger (see details in SLC7 table) Tissue and cellular expression: kidney, small intestine, liver, pancreas Subcellular expression: aical membrane (kidney, intestine) Disease: cystinuria, hypotonia-cystinuria syndrome (HCS), related Locus: 2p16.3 Sequence ID: NP_000332.2, NM_000341.3 Gene ID: 6519 Splice variants: N/D

SLC31_HUMAN (UniProt)

Gene names: SLC3A1, RBAT
Protein names and data: SLC31_HUMAN, Full=Neutral and basic amino acid transport protein rBAT;Short=NBAT, Full=B(0,+)-type amino acid transport protein;Full=D2h; Length: 685 a.a., Mass: 78852 Da,
fasta formatted sequence

Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule
Cellular location: Membrane; Single-pass type II membrane protein (Potential)
Tissue specificity: Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver

Database cross-references

UniProt: Q07837
NextBio: 25349
OMIM: 104614 220100 606407
Ensembl: ENST00000260649
GeneCard: GC02P044239
PharmGenUCSF: SLC3A1
Guide to Pharmacology: SLC3A1 (889)
SLC3 family (889)

HGNC: HGNC:11025

Genetic variants

See also Ensembl:ENST00000260649