SLCtables

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