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2531 KDSR

2531

KDSR

3-ketodihydrosphingosine reductase

protein-coding

Homo sapiens

基因描述

Type Description
Definition 3-ketodihydrosphingosine reductase

研究结论

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

名称对应

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

全选

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