Property Summary

NCBI Gene PubMed Count 11
Grant Count 1
R01 Count 1
Funding $134,583.33
PubMed Score 1.47
PubTator Score 2.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Synonym

Accession Q53R12 B2RP42 Q5U609 Q6UWS1 Q9H5X9
Symbols SLI5
PRO994
TCCE518

Gene

 Grant Application (1)

Gene RIF (3)

PMID Text
27499293 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.
23810381 TM4SF20 ancestral deletion predisposes carriers to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
20479760 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MTCCEGWTSCNGFSLLVLLLLGVVLNAIPLIVSLVEEDQFSQNPISCFEWWFPGIIGAGLMAIPATTMSL      1 - 70
TARKRACCNNRTGMFLSSLFSVITVIGALYCMLISIQALLKGPLMCNSPSNSNANCEFSLKNISDIHPES     71 - 140
FNLQWFFNDSCAPPTGFNKPTSNDTMASGWRASSFHFDSEENKHRLIHFSVFLGLLLVGILEVLFGLSQI    141 - 210
VIGFLGCLCGVSKRRSQIV                                                       211 - 229
//

Text Mined References (11)

PMID Year Title
27499293 2016 Inverting the Topology of a Transmembrane Protein by Regulating the Translocation of the First Transmembrane Helix.
25310401 2014 Sustained induction of collagen synthesis by TGF-? requires regulated intramembrane proteolysis of CREB3L1.
23810381 2013 TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
20479760 2011 Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
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