| Type | Description |
|---|---|
| Definition | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
| Date | Results | Publications |
|---|---|---|
| 2019-10-05 11:41:00 | GM3 synthase deficiency is a neurodevelopmental disorder with consistent features of profound intellectual disability, choreoathetosis, and deafness. | 30185102 |
| 2019-06-15 10:04:00 | HEK-293T clones permanently expressing HaloTag-ST3GAL5 carrying each of the five variants were assessed by quantitative PCR, flow cytometry, western blotting and confocal microscopy. Compared with the very mild phenotype of st3gal5 KO mouse models, the results suggest that unknown mechanisms, in addition to the lack of a-b-c-series gangliosides, contribute to the syndrome. | 30576498 |
| 2019-03-23 10:58:00 | Since the nineties, mice lacking genes for single glycosyltransferases involved in ganglioside biosynthesis, including ST3GAL5 and B4GALNT1, were created and studied. The resulting phenotypes were frequently mild or very mild, so double knock-out animals were created to effectively study the function of gangliosides | 29983310 |
| 2017-12-16 10:35:00 | While no differences in clinical characteristics were detected in patients possessing the functional promoter haplotypes of ST3GAL5, exophthalmic values were significantly lower in patients with the ST8SIA1 haplotype, which showed a significant increase in promoter activity | 29047240 |
| 2017-10-28 11:16:00 | These cases broaden the phenotypic and genetic spectrum of GM3 synthase deficiency due to ST3GAL5 variants. Patients with intellectual disability or furthermore presenting with Rett-like phenotype should be suspected of GM3 synthase deficiency, a disorder of ganglioside biosynthesis. | 27232954 |
| Type | IDs |
|---|---|
| Synonymous | SATI, SIAT9, SIATGM3S, SPDRS, ST3Gal V, ST3GalV |
| Gene |
UniProtKB-ID:
SIAT9_HUMAN,
A0A0S2Z4Q7_HUMAN
UniprotKB:
Q9UNP4,
A0A0S2Z4Q7
UniParc:
UPI000015F319,
UPI000720D60A,
UPI0000140BE0,
UPI0000D4D0DF
EMBL:
AK001340,
KU178448,
CH471053,
BC065936,
AF119415,
AC105053,
AB018356,
AF105026,
AY152815,
AC012511,
AY359105
Ensembl:
ENSG00000115525
KO:
hsa:8869
|
| Nucleutide sequences |
EMBL-CDS:
AAO16866.2,
AAQ89463.1,
EAW99479.1,
AAY24147.1,
EAW99475.1,
AAH65936.2,
AAF66146.1,
AAD14634.1,
BAA33950.1,
BAG50894.1,
ALQ33906.1
Gene_ORFName:
UNQ2510/PRO5998
Ensembl_TRS:
ENST00000640992,
ENST00000640982,
ENST00000638572,
ENST00000393808,
ENST00000639432,
ENST00000638986,
ENST00000393805,
ENST00000640322,
ENST00000638178
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000492753,
ENSP00000491316,
ENSP00000377397,
ENSP00000491564,
ENSP00000491853,
ENSP00000492299,
ENSP00000491828,
ENSP00000377394,
ENSP00000492103
RefSeq:
NP_001341158.1,
NP_001341156.1,
NP_001341162.1,
XP_016860693.1,
NP_001341152.1,
NP_003887.3,
XP_016860703.1,
NP_001341177.1,
XP_016860701.1,
NP_001341163.1,
XP_016860692.1,
NP_001341167.1,
NP_001341153.1,
NP_001350776.1,
XP_016860702.1,
XP_016860695.1,
NP_001341176.1,
XP_016860698.1,
NP_001341155.1,
XP_016860694.1,
XP_016860697.1,
XP_016860691.1,
NP_001035902.1
|
| Others |
UniRef100:
UniRef100_Q9UNP4,
UniRef100_A0A1W2PR45
UniRef90:
UniRef90_Q9UNP4
UniRef50:
UniRef50_Q9UNP4
UniGene:
Hs.415117
CCDS:
CCDS1986.2,
CCDS86856.1,
CCDS42705.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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