BAT1_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
SLC7A9
, BAT1
Protein names and data:
BAT1_HUMAN
, B(0,+)-type amino acid transporter 1; B(0,+)AT
, Glycoprotein-associated amino acid transporter b0,+AT1; Solute carrier family 7 member 9
Lenght: 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
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Membrane; Multi-pass membrane protein (Probable).
Tissue specificity:
Kidney, small intestine, liver and placenta.
Genetic variants
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; dbSNP:rs121908480). VAR_010256
121908480
123 - 123
T -> M (in CSNU; dbSNP:rs79987078). VAR_019002
79987078
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; dbSNP:rs79389353). VAR_010258
79389353
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
Database cross-references
UniProt:
P82251
Ensembl:
ENST00000023064
Ensembl:
ENST00000587772
Ensembl:
ENST00000590341
MIM:
220100
MIM:
604144
neXtProt:
NX_P82251
Antibodypedia:
P82251
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.