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amino acid transporter-1; ATR1; solute carrier family 3 member 1; SLC3A1; neutral & basic amino acid transport protein rBAT; B(0,+)-type amino acid transport protein; NBAT; D2H; cystine-dibasic & neutral amino acid transporter
Function:
- role in the high-affinity, Na+ independent transport of cystine & neutral & dibasic amino acids (system B(0,+)-like activity)
- may function as an activator of SLC7A9
- role in high-affinity reabsorption of cystine in the kidney tubule (putative)
- disulfide-linked heterodimer with the amino acid transport protein SLC7A9
Compartment: membrane
Expression:
- predominantly expressed in the kidney, small intestine & pancreas
- weakly expressed in liver
Pathology:
- defects in SLC3A1 are a cause of:
a) cystinuria type 1
b) hypotonia-cystinuria syndrome
Related
cystinuria
General
amino acid transport protein
glycoprotein
solute carrier family 3 (SLC3, SLC3A)
Properties
SIZE: MW = 79 kD
entity length = 685 aa
COMPARTMENT: cellular membrane
MOTIF: transmembrane domain {TM1}
transmembrane domain {TM2}
transmembrane domain {TM3}
transmembrane domain {TM4}
transmembrane domain {TM5}
transmembrane domain {TM6}
transmembrane domain {TM7}
transmembrane domain {TM8}
transmembrane domain {TM9}
transmembrane domain {TM10}
transmembrane domain {TM11}
transmembrane domain {TM12}
transmembrane domain {88-108}
cytoplasmic domain {N-TERMINAL}
exoplasmic loop
LOOP#: 1
exoplasmic loop
LOOP#: 3
exoplasmic loop
LOOP#: 4
exoplasmic loop
LOOP#: 5
exoplasmic loop
LOOP#: 6
N-glycosylation site {N214}
N-glycosylation site {N261}
N-glycosylation site {N332}
N-glycosylation site {N495}
N-glycosylation site {N513}
cytoplasmic domain {C-TERMINAL}
N-glycosylation site {N575}
Database Correlations
OMIM correlations
UniProt Q07837
Pfam PF00128
Entrez Gene 6519
References
- UniProt :accession P78382
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC3A1