| Type | Description |
|---|---|
| Definition | solute carrier family 3 member 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-24 14:11:00 | Structural basis for amino acid exchange by a human heteromeric amino acid transporter. | 32817565 |
| 2019-10-19 12:53:00 | A homozygous c.325G>A mutation in cationic amino cid transport proteins (SLC7A9) was identified in two patients, and six neutral and basic amino acid transporter protein (SLC3A1) mutations were found in five patients. | 30146843 |
| 2018-11-03 10:17:00 | Study shows that various computational tools were able to distinguish cystinuria-causing mutations from benign polymorphisms. Four deleterious mutation (R362C, T216M, M467K/T) in the coding region of SLC3A1 were identified. The intron variant c.1136+2/3delT in SLC3A1 gene probably affected the splicing process. | 30069816 |
| 2018-08-11 11:14:00 | Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated | 28689648 |
| 2018-07-07 10:07:00 | Spectrum of SLC3A1 and SLC7A9 mutations in cystinuria patients presenting with prenatal hyperechoic colon has been described. | 28646536 |
| Type | IDs |
|---|---|
| Synonymous | ATR1, CSNU1, D2H, NBAT, RBAT |
| Gene |
UniProtKB-ID:
SLC31_HUMAN,
A0A0S2Z4E1_HUMAN,
B8ZZK1_HUMAN
UniprotKB:
Q07837,
A0A0S2Z4E1,
B8ZZK1
UniParc:
UPI0001881554,
UPI0000552B10,
UPI0000552B0D,
UPI000020835B,
UPI0000552B0F,
UPI0001881555,
UPI000013D0F2,
UPI000020835C
EMBL:
U60811,
KU178335,
U60814,
U60815,
CH471053,
U60819,
DQ023512,
BC093626,
U60810,
DQ023516,
U60812,
AB033549,
L11696,
M95548,
AK223146,
DQ023515,
DQ023513,
U60818,
U60816,
BC093624,
BC022386,
D82326,
DQ023517,
AC013717,
AK289636,
DQ023514,
U60813
Ensembl:
ENSG00000138079
KO:
hsa:6519
|
| Nucleutide sequences |
EMBL-CDS:
AAY89646.1,
AAH22386.1,
BAD96866.1,
AAA35500.1,
AAH93624.1,
AAY89643.1,
AAY89647.1,
BAB16841.1,
AAX88955.1,
AAY89645.1,
BAF82325.1,
AAY89648.1,
AAH93626.1,
BAA11541.1,
AAA81778.1,
AAY89644.1,
AAB39829.1,
EAX00278.1,
ALQ33793.1
Gene_ORFName:
hCG_16811
Ensembl_TRS:
ENST00000409380,
ENST00000409741,
ENST00000409740,
ENST00000409229,
ENST00000410056,
ENST00000260649,
ENST00000409387
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000387337,
ENSP00000386954,
ENSP00000260649,
ENSP00000386620,
ENSP00000386709,
ENSP00000386677,
ENSP00000387308
RefSeq:
NP_000332.2,
XP_011531349.1
|
| Others |
UniRef100:
UniRef100_Q07837,
UniRef100_B8ZZK1
UniRef90:
UniRef90_Q07837,
UniRef90_Q07837-6
UniRef50:
UniRef50_Q07837
UniGene:
Hs.112916
CCDS:
CCDS1819.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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