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6609 SMPD1

6609

SMPD1

sphingomyelin phosphodiesterase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition sphingomyelin phosphodiesterase 1

研究结论

Date Results Publications
2021-03-27 14:42:00 SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder. 32409254
2021-01-02 12:49:00 Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs. 30870388
2020-11-28 13:17:00 Comparative lipidomics of 5-Fluorouracil-sensitive and -resistant colorectal cancer cells reveals altered sphingomyelin and ceramide controlled by acid sphingomyelinase (SMPD1). 32273521
2020-11-21 13:21:00 Secretion of Acid Sphingomyelinase and Ceramide by Endothelial Cells Contributes to Radiation-Induced Intestinal Toxicity. 32291318
2020-10-31 13:16:00 Skin of atopic dermatitis patients shows disturbed beta-glucocerebrosidase and acid sphingomyelinase activity that relates to changes in stratum corneum lipid composition. 32092464

名称对应

Type IDs
Synonymous ASM, ASMASE, NPD
Gene
UniProtKB-ID: ASM_HUMAN, E9LUE9_HUMAN, E9LUE8_HUMAN, Q8IUN0_HUMAN, Q59EN6_HUMAN
UniprotKB: P17405, E9LUE9, E9LUE8, Q8IUN0, Q59EN6
UniParc: UPI0001F73569, UPI000013E592, UPI0001F7356A, UPI0001DD21C0, UPI0000456482, UPI00004F6E1F, UPI0000074741, UPI0000366772
EMBL: M59916, X59960, BC041164, X52678, AK292388, AC068733, AB209775, X52679, HQ132747, X63600, HQ132748, M59917, M81780
Ensembl: ENSG00000166311
KO: hsa:6609
Nucleutide sequences
EMBL-CDS: BAF85077.1, AAA58377.1, AAA75008.1, AAA75009.1, AAA58378.1, CAA36902.1, CAA36901.1, CAA45145.1, CAA42584.1, ADW09002.1, ADW09001.1, AAH41164.1, BAD93012.1
Ensembl_TRS: ENST00000527275, ENST00000342245
Protein sequencees
Ensembl_PRO: ENSP00000435350, ENSP00000340409
RefSeq: NP_001352064.1, NP_001305017.1, NP_001007594.2, NP_001305016.1, NP_000534.3, XP_011518606.1
Others
UniRef100: UniRef100_Q8IUN0, UniRef100_E9LUE9, UniRef100_Q59EN6, UniRef100_E9LUE8, UniRef100_P17405
UniRef90: UniRef90_P17405-2, UniRef90_A0A2K5ZJS8, UniRef90_P17405, UniRef90_G3V1E1, UniRef90_E9LUE8
UniRef50: UniRef50_G3V1E1, UniRef50_A0A2K5JIB6, UniRef50_A0A2K5ZJS8, UniRef50_P17405, UniRef50_P17405-2
UniGene: Hs.498173
CCDS: CCDS44531.1, CCDS31409.2

全选

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