SLC7A9
entrez
11136
canonical
uniprot
P82251
canonical
ensembl
ENSG00000021488
resolver
ensp
ENSP00000023064
resolver
ensp
ENSP00000464822
resolver
ensp
ENSP00000468439
resolver
ensp
ENSP00000549264
resolver
ensp
ENSP00000549265
resolver
ensp
ENSP00000549266
resolver
ensp
ENSP00000549267
resolver
enst
ENST00000023064
resolver
enst
ENST00000587772
resolver
enst
ENST00000590341
resolver
enst
ENST00000879205
resolver
enst
ENST00000879206
resolver
enst
ENST00000879207
resolver
enst
ENST00000879208
resolver
genesymbol
SLC7A9
resolver
genesymbol_syn
BAT1
resolver
hgnc
HGNC:11067
resolver
uniprot
B2R9A6
resolver
uniprot_entry
BAT1_HUMAN
resolver
uniprot_sec
B2R9A6
resolver
amino_acid_sequence
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE
uniprot
proteins
disease_involvement
DISEASE: Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. {ECO:0000269|PubMed:10471498, ECO:0000269|PubMed:11157794, ECO:0000269|PubMed:12234283, ECO:0000269|PubMed:12371955, ECO:0000269|PubMed:12820697, ECO:0000269|PubMed:15635077, ECO:0000269|PubMed:16138908, ECO:0000269|PubMed:16609684, ECO:0000269|PubMed:18752446, ECO:0000269|PubMed:19782624, ECO:0000269|PubMed:32494597}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Associates with SLC3A1 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1 (PubMed:16825196, PubMed:32494597, PubMed:32817565, PubMed:8663357). Has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids (PubMed:16825196, PubMed:32494597, PubMed:8663357). Substrate exchange is driven by high concentration of intracellular neutral amino acids and the intracellular reduction of L-cystine to L-cysteine (PubMed:8663357). Required for reabsorption of L-cystine and dibasic amino acids across the brush border membrane in renal proximal tubules. {ECO:0000269|PubMed:10471498, ECO:0000269|PubMed:10588648, ECO:0000269|PubMed:16609684, ECO:0000269|PubMed:16825196, ECO:0000269|PubMed:32494597, ECO:0000269|PubMed:32817565, ECO:0000269|PubMed:8663357}.
uniprot
proteins
mass_dalton
53481
uniprot
proteins
mutagenesis
MUTAGEN 230; /note="W->A: Abolishes amino acid transport activity."; /evidence="ECO:0000269|PubMed:32494597"; MUTAGEN 233; /note="D->A: Complete loss of amino acid transport activity."; /evidence="ECO:0000269|PubMed:32494597"; MUTAGEN 235; /note="W->A: Complete loss of amino acid transport activity."; /evidence="ECO:0000269|PubMed:32494597"; MUTAGEN 237; /note="Q->A: Reduces amino acid transport activity."; /evidence="ECO:0000269|PubMed:32494597"; MUTAGEN 321; /note="C->S: Does not affect amino acid transport activity."; /evidence="ECO:0000269|PubMed:16825196"; MUTAGEN 379; /note="S->A: Markedly reduces amino acid transport activity."; /evidence="ECO:0000269|PubMed:32494597"; MUTAGEN 383; /note="W->A: Complete loss of amino acid transport activity."; /evidence="ECO:0000269|PubMed:32494597"; MUTAGEN 386; /note="Y->A: Loss of amino acid transport activity."; /evidence="ECO:0000269|PubMed:32494597"; MUTAGEN 482; /note="P->A,G,S,V: No effect on amino acid transport activity."; /evidence="ECO:0000269|PubMed:16609684"; MUTAGEN 482; /note="P->F,I,M,W: Decreased amino acid transport activity."; /evidence="ECO:0000269|PubMed:16609684
uniprot
proteins
protein_family
Amino acid-polyamine-organocation (APC) superfamily
uniprot
proteins
pubmed
10471498
uniprot
proteins
pubmed
10588648
uniprot
proteins
pubmed
11157794
uniprot
proteins
pubmed
11318953
uniprot
proteins
pubmed
12167606
uniprot
proteins
pubmed
12234283
uniprot
proteins
pubmed
12371955
uniprot
proteins
pubmed
12820697
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15635077
uniprot
proteins
pubmed
16138908
uniprot
proteins
pubmed
16609684
uniprot
proteins
pubmed
16825196
uniprot
proteins
pubmed
18752446
uniprot
proteins
pubmed
19782624
uniprot
proteins
pubmed
32494597
uniprot
proteins
pubmed
32817565
uniprot
proteins
pubmed
8663357
uniprot
proteins
sequence_length
487
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:12167606, ECO:0000269|PubMed:16609684}; Multi-pass membrane protein {ECO:0000269|PubMed:16609684, ECO:0000305|PubMed:12167606}. Cell membrane {ECO:0000269|PubMed:16825196, ECO:0000269|PubMed:32817565}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 32..55; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 63..84; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 111..137; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 148..169; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 170..193; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 218..238; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 252..274; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 303..325; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 352..370; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 371..391; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 411..431; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9"; TRANSMEM 435..450; /note="Helical"; /evidence="ECO:0000269|PubMed:32494597, ECO:0007744|PDB:6LI9
uniprot
proteins