SLC3A1
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
Disease:
(OMIM:
104614 220100 606407)
Defects in SLC3A1 are a cause of cystinuria type 1 (CSNU1) [MIM:220100]. Cystinuria (CSNU) arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract; Defects in SLC3A1 are a cause of hypotonia-cystinuria syndrome (HCS) [MIM:606407]. HCS is characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood
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
122 - 122
P -> S (in CSNU1). VAR_064040
128 - 128
P -> Q (in CSNU1). VAR_011420
151 - 151
Y -> C (in CSNU1). VAR_038200
181 - 181
R -> Q (in CSNU1). VAR_011421
216 - 216
T -> M (in CSNU1). VAR_022600
253 - 253
N -> K (in CSNU1). VAR_038201
268 - 268
E -> K (in CSNU1; reduction in amino acid transport activity). VAR_011422
341 - 341
T -> A (in CSNU1; reduction in amino acid transport activity). VAR_011423
362 - 362
R -> C (in CSNU1). VAR_022601
362 - 362
R -> H (in CSNU1). VAR_038202
365 - 365
R -> W (in CSNU1). VAR_011424
398 - 398
G -> R (in CSNU1). VAR_038203
452 - 452
R -> W (in CSNU1). VAR_011425
461 - 461
Y -> H (in CSNU1). VAR_011426
467 - 467
M -> K (in CSNU1). VAR_011428
467 - 467
M -> T (in CSNU1; loss of 80% of amino acid transport activity). VAR_011427
481 - 481
G -> V (in CSNU1). VAR_038204
482 - 482
E -> K (in CSNU1). VAR_038205
508 - 508
P -> A (in CSNU1). VAR_022602
510 - 510
Q -> R (in CSNU1). VAR_038206
582 - 582
Y -> H (in CSNU1). VAR_011429
584 - 584
R -> T (in CSNU1). VAR_038207
599 - 599
F -> S (in CSNU1). VAR_038208
600 - 600
G -> E (in CSNU1). VAR_038209
615 - 615
P -> T (in CSNU1). VAR_011430
618 - 618
M -> I (in dbSNP:rs698761). VAR_011431
698761
648 - 648
F -> S (in CSNU1). VAR_011432
652 - 652
T -> R (in CSNU1). VAR_011433
678 - 678
L -> P (in CSNU1). VAR_011434