| Type | Description |
|---|---|
| Definition | cystinosin, lysosomal cystine transporter |
| Date | Results | Publications |
|---|---|---|
| 2020-03-14 11:37:00 | We present a case of ocular cystinosis caused by two potentially severe CTNS gene mutations. The lack of renal involvement may be due to localised (ocular) aberrant CTNS RNA splicing. | 30957593 |
| 2019-09-21 10:41:00 | Human cystinosin expressed in this yeast confers growth on cystine when the protein is mistargeted to the plasma membrane by the deletion of the C-terminal targeting signal, GYQDL. | 29467429 |
| 2019-08-10 12:04:00 | CTNS gene mutation is associated with cystinosis. | 30849045 |
| 2018-05-26 10:49:00 | Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS | 28238446 |
| 2018-01-06 12:41:00 | Potential dual function of PQ-loop proteins such as cystinosin. | 28887435 |
| Type | IDs |
|---|---|
| Synonymous | CTNS-LSB, PQLC4, SLC66A4 |
| Gene |
UniProtKB-ID:
CTNS_HUMAN,
A0A0S2Z3K3_HUMAN,
I3L4A9_HUMAN,
A0A0S2Z3I9_HUMAN
UniprotKB:
O60931,
A0A0S2Z3K3,
I3L4A9,
A0A0S2Z3I9
UniParc:
UPI000013C55D,
UPI0003EAF027,
UPI0000366B8B
EMBL:
Y15927,
Y15925,
Y15929,
BC032850,
Y15932,
Y15933,
AC132942,
AH008011,
Y15928,
Y15924,
AC027796,
AK292019,
Y15930,
KU178004,
Y15931,
CH471108,
AJ222967,
AF168787,
KU178003,
Y15926
Ensembl:
ENSG00000040531
KO:
hsa:1497
|
| Nucleutide sequences |
EMBL-CDS:
AAD45630.1,
CAA75882.1,
AAF43102.1,
CAA11021.1,
EAW90494.1,
BAF84708.1,
EAW90496.1,
EAW90495.1,
AAH32850.1,
ALQ33462.1,
ALQ33461.1
Ensembl_TRS:
ENST00000046640,
ENST00000673965,
ENST00000381870,
ENST00000574776
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000046640,
ENSP00000371294,
ENSP00000500995,
ENSP00000461118
RefSeq:
XP_011521994.1,
XP_016879743.1,
NP_001361423.1,
NP_001361421.1,
NP_001026851.2,
NP_004928.2,
XP_006721526.1,
XP_006721527.1,
XP_011521993.1,
NP_001361422.1,
NP_001361425.1,
NP_001361424.1
|
| Others |
UniRef100:
UniRef100_O60931,
UniRef100_I3L4A9
UniRef90:
UniRef90_O60931
UniRef50:
UniRef50_O60931
UniGene:
Hs.187667
CCDS:
CCDS11031.1,
CCDS32530.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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