| Type | Description |
|---|---|
| Definition | diacylglycerol kinase epsilon |
| Date | Results | Publications |
|---|---|---|
| 2020-12-26 13:11:00 | Various phenotypes of disease associated with mutated DGKE gene. | 32413569 |
| 2017-10-21 11:52:00 | mutations can lead to atypical hemolytic uremic syndrome or membranoproliferative glomerulonephritis | 28526779 |
| 2016-07-16 10:42:00 | Letter/Case Report: atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations. | 26018111 |
| 2016-03-12 11:11:00 | Report DGKE intronic mutations located beyond the exon-intron boundaries in familial hemolytic uremic syndrome. | 25854283 |
| 2015-05-23 10:13:00 | Data suggest that complement dysregulation influences the onset and disease severity in carriers of diacylglycerol kinase-epsilon mutations | 25135762 |
| Type | IDs |
|---|---|
| Synonymous | AHUS7, DAGK5, DAGK6, DGK, NPHS7 |
| Gene |
UniProtKB-ID:
DGKE_HUMAN,
A1L4Q0_HUMAN
UniprotKB:
P52429,
A1L4Q0
UniParc:
UPI0000072915,
UPI000012DD1F
EMBL:
AF136745,
U49379,
AK293039,
AC015912,
AC106858,
BC022297,
BC130629,
CH471109,
BC130631
Ensembl:
ENSG00000153933
KO:
hsa:8526
|
| Nucleutide sequences |
EMBL-CDS:
AAD45666.1,
AAH22297.1,
AAC50497.1,
EAW94526.1,
AAI30630.1,
AAI30632.1,
BAF85728.1
Gene_ORFName:
hCG_32229
Ensembl_TRS:
ENST00000572810,
ENST00000284061
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000284061,
ENSP00000459295
RefSeq:
XP_016880732.1,
NP_003638.1,
XP_011523696.1,
XP_011523697.1,
XP_011523698.1,
XP_016880733.1
|
| Others |
UniRef100:
UniRef100_P52429
UniRef90:
UniRef90_P52429
UniRef50:
UniRef50_P52429
UniGene:
Hs.239514
CCDS:
CCDS11590.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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