Type | Description |
---|---|
Definition | 3-ketodihydrosphingosine reductase |
Date | Results | Publications |
---|---|---|
2020-05-23 11:58:00 | Depletion of kdsr causes thrombocytopenia due to impaired proplatelet formation and sphingolipid dysregulation. | 30467204 |
2017-08-05 10:32:00 | mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide synthesis pathway, lead to a previously undescribed recessive Mendelian disorder in the progressive symmetric erythrokeratoderma spectrum. | 28575652 |
2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20855565 |
2010-01-21 00:00:00 | FVT1 is significantly underexpressed by germinal center-type diffuse large B-cell lymphoma compared with non-germinal center-type DLBCL, follicular lymphoma, & normal tonsil control samples. Increased expression of FVT1 correlated with decreased survival. | 19019774 |
2010-01-21 00:00:00 | FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane | 15328338 |
Type | IDs |
---|---|
Synonymous | DHSR, EKVP4, FVT1, SDR35C1 |
Gene |
UniProtKB-ID:
KDSR_HUMAN,
A0A024R292_HUMAN,
K7ERC8_HUMAN
UniprotKB:
Q06136,
A0A024R292,
K7ERC8
UniParc:
UPI00017A78E2,
UPI0000201E4F,
UPI000004C798
EMBL:
BC008797,
AC036176,
BT006782,
AK312360,
AC021803,
AK297670,
X63657,
CH471096
Ensembl:
ENSG00000119537
KO:
hsa:2531
|
Nucleutide sequences |
EMBL-CDS:
AAH08797.1,
EAW63140.1,
CAA45197.1,
BAG35278.1,
BAG60032.1,
AAP35428.1,
EAW63141.1
Gene_ORFName:
hCG_34091
Ensembl_TRS:
ENST00000326575,
ENST00000645214,
ENST00000591902
|
Protein sequencees |
Ensembl_PRO:
ENSP00000494352,
ENSP00000312939,
ENSP00000468203
RefSeq:
XP_016881179.1,
XP_005266734.1,
NP_002026.1
|
Others |
UniRef100:
UniRef100_K7ERC8,
UniRef100_Q06136
UniRef90:
UniRef90_Q6GV12,
UniRef90_Q06136
UniRef50:
UniRef50_Q6GV12,
UniRef50_Q06136
UniGene:
Hs.74050
CCDS:
CCDS11982.1
|
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Refseq |
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