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6611 SMS

6611

SMS

spermine synthase

protein-coding

Homo sapiens

基因描述

Type Description
Definition spermine synthase

研究结论

Date Results Publications
2020-11-21 13:27:00 Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome. 32838743
2020-09-05 13:58:00 Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression. 32591507
2020-02-22 10:06:00 Spermine synthase (SMS) localized together with myosin Va (MyoVa) in cytoplasmic vesicles of breast cancer MCF-7 and neuroblastoma SH-SY5Y cell lines, known to produce exosomes, supporting a role for MyoVa in SMS expression and targeting. 30733278
2016-10-22 11:19:00 Missense mutations causing Snyder-Robinson Syndrome resulting in dysfunctional spermine synthase cause the destabilization of the protein. 26761001
2014-03-22 10:23:00 Results show that p.Y328C, a missense mutation in SMS is responsible for the patients having a mild form of Snyder-Robinson syndrome. 23696453

名称对应

Type IDs
Synonymous MRSR, SPMSY, SRS, SpS
Gene
UniProtKB-ID: SPSY_HUMAN
UniprotKB: P52788
UniParc: UPI0000135E88, UPI000059DAD6
EMBL: AD001528, AK313834, U53331, CH471074, BC009898, BC085621, Z49099, U73023
Ensembl: ENSG00000102172
KO: hsa:6611
Nucleutide sequences
EMBL-CDS: AAH09898.1, EAW98984.1, BAG36567.1, AAH85621.1, AAB61308.1, CAA88921.1, AAD08634.1
Ensembl_TRS: ENST00000379404, ENST00000404933
Protein sequencees
Ensembl_PRO: ENSP00000385746, ENSP00000368714
RefSeq: XP_016885243.1, XP_016885244.1, XP_024308195.1, NP_001245352.1, XP_005274639.1, XP_016885242.1, XP_011543870.1, NP_004586.2
Others
UniRef100: UniRef100_P52788
UniRef90: UniRef90_P52788
UniRef50: UniRef50_P52788
UniGene: Hs.724874
CCDS: CCDS14203.1, CCDS59161.1

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