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79853 TM4SF20

79853

TM4SF20

transmembrane 4 L six family member 20

protein-coding

Homo sapiens

基因描述

Type Description
Definition transmembrane 4 L six family member 20

研究结论

Date Results Publications
2019-10-19 10:18:00 Identification of residues critical for topology inversion of the transmembrane protein TM4SF20 through regulated alternative translocation. 30808712
2017-09-02 13:56:00 Ceramide inverts the membrane orientation of TMS4SF20, creating a form of TM4SF20 that stimulates the cleavage of CREB3L1. 27499293
2016-08-19 13:25:00 TM4SF20 is the first protein shown to undergo Regulated Alternative Translocation in response to ceramide. In the absence of ceramide, the N terminus of the first transmembrane helix of TM4SF20 is inserted into the ER lumen. This form blocks activation of CREB3L1, a membrane-bound transcription factor. In the presence of ceramide, the membrane topology of TM4SF20 is inverted. The inverted form stimulates CREB3L1 cleavage. 27499293
2013-12-21 11:26:00 TM4SF20 ancestral deletion predisposes carriers to a pediatric disorder of early language delay and cerebral white matter hyperintensities. 23810381
2010-06-30 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 20479760

名称对应

Type IDs
Synonymous PRO994, SLI5, TCCE518
Gene
UniProtKB-ID: T4S20_HUMAN
UniprotKB: Q53R12
UniParc: UPI000013E99B
EMBL: BC137256, AY358671, BC137257, AK026453, BC035754, AC097662
Ensembl: ENSG00000168955
KO: hsa:79853
Nucleutide sequences
EMBL-CDS: AAI37257.1, AAQ89034.1, AAH35754.1, AAI37258.1, AAY24253.1, BAB15488.1
Gene_ORFName: UNQ518/PRO994
Ensembl_TRS: ENST00000304568
Protein sequencees
Ensembl_PRO: ENSP00000303028
RefSeq: XP_011510178.1, NP_079071.2
Others
UniRef100: UniRef100_Q53R12
UniRef90: UniRef90_Q53R12
UniRef50: UniRef50_Q53R12
UniGene: Hs.156652
CCDS: CCDS2466.1

全选

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