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55654 TMEM127

55654

TMEM127

transmembrane protein 127

protein-coding

Homo sapiens

基因描述

Type Description
Definition transmembrane protein 127

研究结论

Date Results Publications
2021-03-27 14:43:00 The TMEM127 Is a Nedd4-Family E3 Ligase Adaptor Required by Salmonella SteD to Ubiquitinate and Degrade MHC Class II Molecules. 32526160
2021-02-27 13:54:00 Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking. 32575117
2019-09-28 10:54:00 n the present cases, the clinical picture does not seem to be very different from heterozygous TMEM127 mutation carriers, except for a relatively large tumor size and more pronounced plasma metanephrine concentration. It is unclear whether the mental retardation is causally related to homozygosity of the TMEM127 mutations. 29282712
2019-02-16 11:15:00 We found that under nutrient-rich conditions TMEM127 expression reduces mTORC1 recruitment to Rags. In addition, TMEM127 interacts with LAMTOR in an amino acid-dependent manner and decreases the LAMTOR1-vATPase association, while TMEM127-vATPase binding requires intact lysosomal acidification but is amino acid independent 29547888
2017-09-30 11:59:00 The SDHA, TMEM127, MAX, and SDHAF2 genes contribute to hereditary pheochromocytoma and paraganglioma. 28384794

名称对应

Type IDs
Gene
UniProtKB-ID: TM127_HUMAN, Q9H6I0_HUMAN, C9J4H2_HUMAN
UniprotKB: O75204, Q9H6I0, C9J4H2
UniParc: UPI0000207C61, UPI0000071BC7, UPI000000D96F
EMBL: BC028575, AK025910, AC004020, BC039892, AC012307, AC021188, CH471207, AK000514
Ensembl: ENSG00000135956
KO: hsa:55654
Nucleutide sequences
EMBL-CDS: AAC23494.1, EAW71379.1, EAW71376.1, AAY24224.1, EAW71377.1, BAA91220.1, AAH39892.1, EAW71378.1, AAH28575.1, BAB15279.1
Ensembl_TRS: ENST00000432959, ENST00000258439, ENST00000435268
Protein sequencees
Ensembl_PRO: ENSP00000416660, ENSP00000258439, ENSP00000411810
RefSeq: NP_001180233.1, XP_016859939.1, XP_016859941.1, NP_060319.1
Others
UniRef100: UniRef100_Q9H6I0, UniRef100_O75204
UniRef90: UniRef90_O75204, UniRef90_Q9H6I0
UniRef50: UniRef50_O75204, UniRef50_Q9H6I0
UniGene: Hs.164303, Hs.735706
CCDS: CCDS2018.1

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