| Type | Description |
|---|---|
| Definition | nuclear receptor binding SET domain protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:34:00 | 5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation. | 33389145 |
| 2020-08-22 15:28:00 | Nuclear interacting SET domain protein 1 inactivation impairs GATA1-regulated erythroid differentiation and causes erythroleukemia. | 32533074 |
| 2020-07-25 12:05:00 | IGF2-DMR0 has a role as a DNA methylation dependent, P0 promoter-specific enhancer; NSD1 may play a role in the establishment or maintenance of IGF2-DMR0 methylation during the postimplantation period | 31914674 |
| 2020-05-16 10:19:00 | NSD1 was overexpressed in HCC tissues and cell lines in association with poor prognosis. Knockout of NSD1 inhibited the proliferation, migration and invasion abilities of HCC cells. | 31727171 |
| 2020-04-25 10:08:00 | NSD1 mutation is associated with Hyperinsulinemic hypoglycemia. | 30719864 |
| Type | IDs |
|---|---|
| Synonymous | ARA267, KMT3B, SOTOS, SOTOS1, STO |
| Gene |
UniProtKB-ID:
NSD1_HUMAN,
Q96MN8_HUMAN
UniprotKB:
Q96L73,
Q96MN8
UniParc:
UPI000006F9C6,
UPI0000070E30,
UPI000006D309,
UPI000013F320
EMBL:
AY049721,
AF395588,
AF322907,
AF380302,
AK056667
Ensembl:
ENSG00000165671
KO:
hsa:64324
|
| Nucleutide sequences |
EMBL-CDS:
AAK92049.1,
AAL27991.1,
AAL40694.1,
AAL06645.1,
BAB71247.1
Ensembl_TRS:
ENST00000347982,
ENST00000354179,
ENST00000439151
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000395929,
ENSP00000346111,
ENSP00000343209
RefSeq:
XP_024301920.1,
XP_024301927.1,
XP_024301926.1,
XP_024301930.1,
XP_024301923.1,
XP_024301921.1,
XP_024301919.1,
XP_024301928.1,
NP_001352613.1,
XP_024301922.1,
NP_758859.1,
XP_024301924.1,
XP_024301918.1,
XP_024301931.1,
XP_024301929.1,
NP_071900.2
|
| Others |
UniRef100:
UniRef100_Q96L73
UniRef90:
UniRef90_Q96L73
UniRef50:
UniRef50_Q96L73
UniGene:
Hs.106861
CCDS:
CCDS4412.1,
CCDS4413.1
|
| {{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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