| Type | Description |
|---|---|
| Definition | solute carrier family 17 member 5 |
| Date | Results | Publications |
|---|---|---|
| 2018-02-17 11:17:00 | study describes a novel pathogenic variant in SLC17A5, namely an intronic transposal insertion, in a patient with mild biochemical and clinical phenotypes. The presence of a small fraction of normal transcript may explain the mild phenotype. This case illustrates the importance of including lysosomal sialic acid storage disease in the differential diagnosis of developmental delay with postnatal onset and hypomyelination. | 28187749 |
| 2017-02-25 11:11:00 | Elevated levels of AST are Associated with Cardiovascular disease. | 27872510 |
| 2012-11-03 11:40:00 | These data demonstrate that sialin mediates nitrate influx into salivary gland and other cell types. | 22778404 |
| 2012-09-22 10:14:00 | the substrate-binding site of sialin (SLC17A5) | 22334707 |
| 2011-11-05 11:11:00 | Human SLC17A5 carrying mutations that causes both phenotypes of Salla disease and mutations that cause infantile sialic acid storage disease showed no transport activity | 21781115 |
| Type | IDs |
|---|---|
| Synonymous | AST, ISSD, NSD, SD, SIALIN, SIASD, SLD |
| Gene |
UniProtKB-ID:
S17A5_HUMAN
UniprotKB:
Q9NRA2
UniParc:
UPI000003B2DE,
UPI0000070690
EMBL:
AF244577,
AL590428,
AK075320,
AJ387747,
BC020961,
AL121972
Ensembl:
ENSG00000119899
KO:
hsa:26503
|
| Nucleutide sequences |
EMBL-CDS:
BAC11546.1,
CAB62540.1,
AAF97769.1,
AAH20961.1
Ensembl_TRS:
ENST00000355773
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000348019
RefSeq:
NP_001369560.1,
NP_001369564.1,
NP_036566.1,
NP_001369563.1,
NP_001369562.1,
NP_001369558.1,
NP_001369565.1,
NP_001369559.1,
NP_001369561.1
|
| Others |
UniRef100:
UniRef100_Q9NRA2
UniRef90:
UniRef90_Q9NRA2
UniRef50:
UniRef50_Q9NRA2
UniGene:
Hs.597422
CCDS:
CCDS4981.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
National Public Health Institute |
3 |
| 2 |
Stanford University School of Medicine |
3 |
| 3 |
Helix Research Institute |
2 |
| 4 |
University of Turku |
2 |
| 5 |
G. Gaslini Institute |
2 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
Sumio Sugano |
4 |
| 2 |
Yutaka Suzuki |
4 |
| 3 |
L Peltonen |
4 |
| 4 |
P Aula |
4 |
| 5 |
F W Verheijen |
4 |