| Type | Description |
|---|---|
| Definition | solute carrier family 7 member 9 |
| 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. Only missense mutation V142A had a benign effect on the protein structure and function of SLC7A9. The intron variant c.604+66C>G in SLC7A9 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 | BAT1, CSNU3 |
| Gene |
UniProtKB-ID:
BAT1_HUMAN
UniprotKB:
P82251
UniParc:
UPI0000037773
EMBL:
AF421178,
AF421170,
AF141289,
AF421181,
AF421174,
AJ249199,
AB033548,
AF421180,
AF421175,
BC017962,
AF421177,
AF421176,
AF421171,
AF421173,
AF421179,
AF421172,
AK313708
Ensembl:
ENSG00000021488
KO:
hsa:11136
|
| Nucleutide sequences |
EMBL-CDS:
CAB54003.1,
BAB16840.1,
AAN40878.1,
BAG36453.1,
AAD55898.1,
AAH17962.1
Ensembl_TRS:
ENST00000590341,
ENST00000023064,
ENST00000587772
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000468439,
ENSP00000464822,
ENSP00000023064
RefSeq:
XP_006723055.1,
XP_024307102.1,
XP_016881719.1,
XP_011524704.1,
NP_001119807.1,
NP_055085.1,
NP_001229965.1
|
| Others |
UniRef100:
UniRef100_P82251
UniRef90:
UniRef90_P82251
UniRef50:
UniRef50_P82251
UniGene:
Hs.743345
CCDS:
CCDS12425.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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