Envelope proteins and their potential roles in EDMD physiopathology (Homo sapiens)

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Schematic model of the nuclear envelope proteins and their potential roles in Emery-Dreyfuss muscular dystrophy (EDMD) physiopathology.

Nuclear lamins form a meshwork. It interacts with proteins of the nuclear envelope, i.e., EMD, LBR, TMPO, SUN, and MAN1, and with several transcription factors. Through nesprin proteins, lamins interact with actin microfilaments, microtubules, and cytoplasmic intermediate filaments, connecting the nuclear lamina to the extracellular matrix.

MKL1 translocates into the nucleus and together with SRF induces gene expression. In addition, EMD facilitates polymerization of nuclear actin, reducing the nuclear export of MKL1 to the cytoplasm. In EDMD cells, emerin mislocalizes and is unable to modulate nuclear actin polymerization. G-actin binds to MKL1 and it is exported from the nucleus, impairing gene expression. YAP and TAZ are key transcription factors for cell proliferation. YAP/TAZ activation causes their nuclear accumulation, promoting cell proliferation, and inhibiting differentiation. Nuclear localization of YAP/TAZ is increased in patient myoblasts with LMNA mutations.

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  1. Brull A, Morales Rodriguez B, Bonne G, Muchir A, Bertrand AT; ''The Pathogenesis and Therapies of Striated Muscle Laminopathies.''; Front Physiol, 2018 PubMed Europe PMC Scholia


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109210view14:41, 27 February 2020Marvin M2Connected unconnected line
104294view13:01, 15 May 2019FehrhartOntology Term : 'disease pathway' added !
104293view13:00, 15 May 2019FehrhartModified description
103621view18:34, 21 March 2019AlexanderPicofixed unconnected lines and layout
103620view18:25, 21 March 2019AlexanderPicoadjusted width of cell
103435view09:52, 1 March 2019Marvin M2Ontology Term : 'Emery-Dreifuss muscular dystrophy' added !
103295view16:07, 21 February 2019LaurentModified description
103292view15:58, 21 February 2019LaurentNew pathway

External references


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NameTypeDatabase referenceComment
ADCY10GeneProduct55811 (Entrez Gene) A/C
ADCY1GeneProduct107 (Entrez Gene) A/C
ADCY2GeneProduct108 (Entrez Gene) A/C
ADCY3GeneProduct109 (Entrez Gene) A/C
ADCY4GeneProduct196883 (Entrez Gene) A/C
ADCY5GeneProduct111 (Entrez Gene) A/C
ADCY6GeneProduct112 (Entrez Gene) A/C
ADCY7GeneProduct113 (Entrez Gene) A/C
ADCY8GeneProduct114 (Entrez Gene) A/C
ADCY9GeneProduct115 (Entrez Gene) A/C
BANF1GeneProduct8815 (Entrez Gene) BAF
CTGFGeneProduct1490 (Entrez Gene) CTGF/CCN2
Cofilin-1GeneProduct1072 (Entrez Gene)
EMDGeneProduct2010 (Entrez Gene)
Grb2GeneProduct2885 (Entrez Gene)
HRASGeneProduct3265 (Entrez Gene) Ras
KIF5BGeneProduct3799 (Entrez Gene) Kif5B
KRASGeneProduct3845 (Entrez Gene) Ras
LBRGeneProduct3930 (Entrez Gene) LBR
LEMD3GeneProduct23592 (Entrez Gene) MAN-1
MAP2K1GeneProduct5604 (Entrez Gene) MEK
MAP2K2GeneProduct5605 (Entrez Gene) MEK
MAP3K9GeneProduct4293 (Entrez Gene) MLK1
MAPK1GeneProduct5594 (Entrez Gene) ERK
MAPK3GeneProduct5595 (Entrez Gene) ERK
NRASGeneProduct4893 (Entrez Gene) Ras
PLECGeneProduct5339 (Entrez Gene)
RhoAGeneProduct387 (Entrez Gene)
SOS1GeneProduct6654 (Entrez Gene)
SOS2GeneProduct6655 (Entrez Gene)
SRFGeneProduct6722 (Entrez Gene) SRF
SUNGeneProduct23353 (Entrez Gene)
SYNE1GeneProduct23345 (Entrez Gene) nesprin1/2
SYNE2GeneProduct23224 (Entrez Gene) nesprin1/2
SYNE3GeneProduct161176 (Entrez Gene) nesprin3
SYNE4GeneProduct163183 (Entrez Gene) nesprin4
Smad2GeneProduct4087 (Entrez Gene)
Smad3GeneProduct4088 (Entrez Gene)
Smad4GeneProduct4089 (Entrez Gene)
TAZGeneProduct6901 (Entrez Gene) YAP/TAZ
TGFB1GeneProduct7040 (Entrez Gene) TGF-B
TGFB2GeneProduct7042 (Entrez Gene) TGF-B
TGFB3GeneProduct7043 (Entrez Gene) TGF-B
TMEM43GeneProduct79188 (Entrez Gene) LUMA
TMPOGeneProduct7112 (Entrez Gene)
YY1AP1GeneProduct55249 (Entrez Gene) YAP/TAZ

Annotated Interactions

No annotated interactions

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