SOX10, EGR2 and NAB proteins bind the GJB1 promoter

Stable Identifier
R-HSA-9618725
Type
Reaction [binding]
Species
Homo sapiens
Compartment
nucleoplasm
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
SOX10, EGR2 and NAB proteins bind the GJB1 promoter
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

GJB1 expression is regulated by two alternate promoters in a tissue specific manner. In Schwann cells, expression is driven by the P2 promoter and depends on binding by SOX10, EGR2 and NAB1 or NAB2 (Neuhaus et al, 1996; Bondurand et al, 2001; Le et al, 2005; Lopez-Arido et al, 2015).

Literature References
PubMed ID Title Journal Year
11734543 Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

Bondurand, N, Girard, M, Pingault, V, Lemort, N, Dubourg, O, Goossens, M

Hum. Mol. Genet. 2001
16136673 Nab proteins are essential for peripheral nervous system myelination

Le, N, Nagarajan, R, Wang, JY, Svaren, J, LaPash, C, Araki, T, Schmidt, RE, Milbrandt, J

Nat. Neurosci. 2005
25974668 Differential Sox10 genomic occupancy in myelinating glia

Lopez-Anido, C, Sun, G, Koenning, M, Srinivasan, R, Hung, HA, Emery, B, Keles, S, Svaren, J

Glia 2015
8842374 The human connexin32 gene is transcribed from two tissue-specific promoters

Neuhaus, IM, Bone, L, Wang, S, Ionasescu, V, Werner, R

Biosci. Rep. 1996
Participants
Input
Output
Participant Of
hasEvent
Authored
Rothfels, K  (2019-08-16)
Reviewed
Aletta, J M  (2020-01-17)
Created
Rothfels, K  (2018-09-11)