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23592 LEMD3

23592

LEMD3

LEM domain containing 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition LEM domain containing 3

研究结论

Date Results Publications
2020-10-03 12:54:00 Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. 31129707
2019-11-30 10:58:00 Here we describe the unusual case of a 60-year-old woman with isolated nevus elasticus and a mutation in the LEMD3 (LEM Domain Containing 3) gene. 29465813
2019-07-20 12:14:00 analysis of the structural basis for R-SMAD recognition by MAN1 using SMAD2-MAN1 and SMAD1-MAN1 complex structures 30321401
2019-04-27 10:33:00 LEMD3 is cleaved by PPM1a into fragments that enter the cytosol to bind SMAD2 and SMAD3, thereby antagonizing signaling initiated by stiffness-triggered activity of TGFbeta. 30108174
2018-01-06 10:24:00 studies demonstrated that lower levels of MAN1 in differentiating MSC are associated with higher osteogenesis and lower adipogenesis. High levels of MAN1 only affected adipogenesis. 28449239

名称对应

Type IDs
Synonymous MAN1
Gene
UniProtKB-ID: MAN1_HUMAN, A0A024RBB9_HUMAN
UniprotKB: Q9Y2U8, A0A024RBB9
UniParc: UPI000012EB75
EMBL: AF180142, AF112299, CH471054, AF180136, AF180139, AF180137, AF180135, AF180140, AF180138, AF263918, AL137533, AF180141
Ensembl: ENSG00000174106
KO: hsa:23592
Nucleutide sequences
EMBL-CDS: AAD31593.2, AAF73293.1, CAB70796.1, EAW97148.1, EAW97149.1
Gene_ORFName: hCG_22729
Ensembl_TRS: ENST00000308330
Protein sequencees
Ensembl_PRO: ENSP00000308369
RefSeq: NP_055134.2, NP_001161086.1
Others
UniRef100: UniRef100_Q9Y2U8
UniRef90: UniRef90_Q9Y2U8
UniRef50: UniRef50_Q9Y2U8
UniGene: Hs.744150
CCDS: CCDS8972.1

全选

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