Emerin: Difference between revisions

Latest revision as of 17:33, 30 December 2024

Emerin is a protein that in humans is encoded by the EMD gene. It is a member of the nuclear envelope protein family and plays a crucial role in the structural integrity of the nucleus.

Function[edit]

Emerin is a type II integral membrane protein of the inner nuclear membrane. It is involved in the binding of lamins and other nuclear proteins, contributing to the maintenance of the nuclear envelope structure. Emerin is also implicated in the regulation of gene expression, chromatin organization, and signal transduction.

Clinical significance[edit]

Mutations in the EMD gene are associated with Emery-Dreifuss muscular dystrophy (EDMD), a condition characterized by joint contractures, muscle weakness, and cardiac conduction defects. This condition is inherited in an X-linked recessive manner, primarily affecting males.

Interactions[edit]

Emerin interacts with several proteins, including:

Lamin A/C
BANF1 (Barrier to autointegration factor 1)
Nesprin-1

These interactions are essential for the structural organization of the nuclear envelope and the mechanical stability of the nucleus.

References[edit]

External links[edit]

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-{{Short description|A detailed overview of the protein Emerin and its role in human biology}}
 {{Infobox protein
 | name = Emerin
-| image = Emerin.png
+| image = <!-- Image removed -->
-| caption = Structure of Emerin protein
+| caption = <!-- Caption removed -->
 | symbol = EMD
-| HGNCid = 3347
+| altsymbols = STA
-| OMIM = 300384
+| hgncid = 3341
-| UniProt = P50402
+| chromosomal_location = Xq28
-| chromosome = X
+| uniprot = P50402
-| arm = q
-| band = 28
 }}
-'''Emerin''' is a protein encoded by the ''EMD'' gene located on the X chromosome in humans. It is a member of the nuclear lamina-associated protein family and plays a crucial role in maintaining the structural integrity of the nuclear envelope. Emerin is involved in various cellular processes, including [[gene expression]], [[nuclear assembly]], and [[cell signaling]]. Mutations in the ''EMD'' gene are associated with [[Emery-Dreifuss muscular dystrophy]], a condition characterized by muscle weakness and cardiac abnormalities.
+'''Emerin''' is a [[protein]] that in humans is encoded by the '''EMD''' [[gene]]. It is a member of the [[nuclear envelope]] [[protein family]] and plays a crucial role in the structural integrity of the [[nucleus (cell)|nucleus]].
-==Structure==
+== Function ==
-Emerin is a type II integral membrane protein that is approximately 254 amino acids in length. It is composed of a short N-terminal domain, a transmembrane domain, and a C-terminal domain that extends into the nucleoplasm. The C-terminal domain is responsible for interactions with other nuclear proteins, such as [[lamin A/C]] and [[barrier-to-autointegration factor]] (BAF).
+Emerin is a type II integral membrane protein of the inner nuclear membrane. It is involved in the binding of [[lamin]]s and other nuclear proteins, contributing to the maintenance of the nuclear envelope structure. Emerin is also implicated in the regulation of [[gene expression]], [[chromatin]] organization, and [[signal transduction]].
-==Function==
+== Clinical significance ==
-Emerin is primarily located at the inner nuclear membrane, where it interacts with the nuclear lamina and chromatin. Its functions include:
+Mutations in the EMD gene are associated with [[Emery-Dreifuss muscular dystrophy]] (EDMD), a condition characterized by joint contractures, muscle weakness, and cardiac conduction defects. This condition is inherited in an [[X-linked recessive]] manner, primarily affecting males.
-* '''Nuclear envelope stability''': Emerin contributes to the mechanical stability of the nuclear envelope by binding to lamin A/C and other nuclear envelope proteins.
+== Interactions ==
-* '''Gene regulation''': Emerin is involved in the regulation of gene expression by interacting with chromatin and transcription factors.
+Emerin interacts with several proteins, including:
-* '''Signal transduction''': Emerin participates in various signaling pathways that influence cell proliferation, differentiation, and apoptosis.
+* [[Lamin A/C]]
+* [[BANF1]] (Barrier to autointegration factor 1)
+* [[Nesprin-1]]
-==Clinical Significance==
+These interactions are essential for the structural organization of the nuclear envelope and the mechanical stability of the nucleus.
-Mutations in the ''EMD'' gene can lead to Emery-Dreifuss muscular dystrophy (EDMD), an X-linked recessive disorder. EDMD is characterized by:
-* '''Muscle weakness''': Progressive weakness and wasting of skeletal muscles, particularly in the upper arms and lower legs.
+== See also ==
-* '''Joint contractures''': Stiffness and limited movement in joints, especially elbows, ankles, and neck.
-* '''Cardiac involvement''': Conduction defects and arrhythmias, which can lead to heart block and sudden cardiac death.
-==Research Directions==
-Current research on Emerin focuses on understanding its role in nuclear architecture and its involvement in disease mechanisms. Studies are exploring potential therapeutic approaches to address the defects caused by Emerin mutations, including gene therapy and small molecule interventions.
-==Also see==
 * [[Nuclear envelope]]
 * [[Laminopathies]]
 * [[Muscular dystrophy]]
-* [[Gene expression]]
-* [[Cell signaling]]
+== References ==
+{{Reflist}}
+== External links ==
+* [https://www.ncbi.nlm.nih.gov/gene/2010 EMD gene at NCBI]
+* [https://www.uniprot.org/uniprot/P50402 Emerin protein at UniProt]
 {{Protein-stub}}
-{{Muscular-dystrophy}}
+{{Muscular-dystrophy-stub}}
 [[Category:Proteins]]
+[[Category:Genes on human chromosome X]]
 [[Category:Muscular dystrophy]]
-[[Category:Cell biology]]
+[[Category:Nuclear envelope proteins]]