| Type | Description |
|---|---|
| Definition | N-acetylneuraminate synthase |
| Date | Results | Publications |
|---|---|---|
| 2017-09-09 13:14:00 | NANS deficiency is associated with defect in brain and skeletal development. | 27213289 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20800603 |
| 2010-01-21 00:00:00 | sialic acid synthases kinetics and preliminary mutagenesis experiments reveal the importance of C-terminal antifreeze protein domain | 16274664 |
| 2010-01-21 00:00:00 | The structure of the C-terminal antifreeze-like domain of human sialic acid synthase was determined. The structure comprises one alpha- and two single-turn 3(10)-helices and two beta-strands, and is similar to those of the type III antifreeze proteins. | 16597820 |
| Type | IDs |
|---|---|
| Synonymous | HEL-S-100, SAS, SEMDCG, SEMDG |
| Gene |
UniProtKB-ID:
SIAS_HUMAN
UniprotKB:
Q9NR45
UniParc:
UPI000013597F
EMBL:
CH471105,
BC000008,
AK001659,
AK316608,
BC019315,
AL137073,
AF257466
Ensembl:
ENSG00000095380
KO:
hsa:54187
|
| Nucleutide sequences |
EMBL-CDS:
BAG38195.1,
AAH00008.1,
AAH19315.1,
EAW58867.1,
AAF75261.1,
BAA91818.1
Ensembl_TRS:
ENST00000210444
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000210444
RefSeq:
XP_011517090.1,
NP_061819.2,
XP_016870300.1,
XP_024303342.1,
XP_011517089.1
|
| Others |
UniRef100:
UniRef100_Q9NR45
UniRef90:
UniRef90_Q9NR45
UniRef50:
UniRef50_Q9NR45
UniGene:
Hs.522310,
Hs.665191
CCDS:
CCDS6733.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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