SLC7A9
Protein name:
b0,+AT
Aliases:
[rBAT], system b0,+
Substrates:
cationic amino acids, large neutral amino acids
Transport type:
Exchanger (preferentially extracellular cationic amino acid and cystine against intracellular neutral amino acid)
Tissue and cellular expression:
kidney, small intestine, liver, placenta
Subcellular expression:
apical in epithelial cells
Disease:
cystinuria, isolated cystinuria
Locus:
19q13.1
Sequence ID:
NP_001119807.1,
NM_001126335.1
NP_001229965.1,
NM_001243036.1
NP_055085.1,
NM_014270.4
Gene ID:
11136
Splice variants:
2 splice variants
BAT1_HUMAN (UniProt)
Gene names:
SLC7A9, BAT1
Protein names and data:
BAT1_HUMAN, Full=B(0,+)-type amino acid transporter 1;Short=B(0,+)AT, Full=Glycoprotein-associated amino acid transporter b0,+AT1;Full=Solute carrier family 7 member 9;
Length: 487 a.a., Mass: 53481 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). Thought to be responsible for the high- affinity reabsorption of cystine in the kidney tubule
Disease:
(OMIM:
220100 604144)
Defects in SLC7A9 are a cause of non-type I cystinuria (CSNU) [MIM:220100]. CSNU arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. Three types of cystinuria have been described: type I (fully recessive or silent); type II (high excretor); type III (moderate excretor). Defects in SLC7A9 are associated with type II and type III cystinuria. They also might account for some non-classic type I cystinuria cases
Cellular location:
Membrane; Multi-pass membrane protein (Probable)
Tissue specificity:
Kidney, small intestine, liver and placenta
Database cross-references
UniProt:
P82251
NextBio:
42332
OMIM:
220100
604144
Ensembl:
ENST00000023064
GeneCard:
GC19M032830
PharmGenUCSF:
SLC7A9
Guide to Pharmacology:
SLC7A9 (900)
SLC7 family (900)
HGNC:
HGNC:11067
Genetic variants
See also Ensembl:ENST00000023064
10 - 10
Missing (in CSNU). VAR_018997
44 - 44
I -> T (in CSNU; type I). VAR_014363
52 - 52
P -> L (in CSNU). VAR_018998
63 - 63
G -> R (in CSNU). VAR_018999
69 - 69
W -> L (in CSNU). VAR_019000
70 - 70
A -> V (in CSNU; mild loss of amino acid transport activity). VAR_019001
105 - 105
G -> R (in CSNU; type III; frequent mutation; severe loss of amino acid transport activity). VAR_010256
123 - 123
T -> M (in CSNU). VAR_019002
126 - 126
A -> T (in CSNU). VAR_019003
142 - 142
V -> A (in dbSNP:rs12150889). VAR_048153
12150889
158 - 158
A -> AA (in CSNU). VAR_019004
170 - 170
V -> M (in CSNU; type III; frequent mutation; complete loss of amino acid transport activity). VAR_010257
182 - 182
A -> T (in CSNU; type III; frequent mutation; mild loss of amino acid transport activity). VAR_010258
187 - 187
I -> F (in CSNU). VAR_019005
193 - 193
I -> II (in CSNU). VAR_019006
195 - 195
G -> R (in CSNU; type III). VAR_010259
223 - 223
L -> M (in dbSNP:rs1007160). VAR_019007
1007160
224 - 224
A -> V (in CSNU; non-classic type I). VAR_022603
230 - 230
W -> R (in CSNU). VAR_019008
241 - 241
I -> T (in CSNU). VAR_019009
244 - 244
Missing (in CSNU). VAR_019010
259 - 259
G -> R (in CSNU; type III). VAR_010260
261 - 261
P -> L (in CSNU; types I and III). VAR_014364
330 - 330
V -> M (in CSNU; type III). VAR_015885
331 - 331
A -> V (in CSNU; non-classic type I). VAR_022604
333 - 333
R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity). VAR_019011
354 - 354
A -> T (in CSNU; type III; severe loss of amino acid transport activity). VAR_014365
379 - 379
S -> R (in CSNU). VAR_019012
382 - 382
A -> T (in CSNU). VAR_019013