Emerin
Sign in to saveAlso known as LEM domain containing 5, uniprot:P50402, EMD
Emerin is a protein that in humans is encoded by the EMD gene, also known as the STA gene. Emerin, together with LEMD3, is a LEM domain-containing integral protein of the inner nuclear membrane in vertebrates. Emerin is highly expressed in cardiac and skeletal muscle. In cardiac muscle, emerin localizes to adherens junctions within intercalated discs where it appears to function in mechanotransduction of cellular strain and in beta-catenin signaling. Mutations in emerin cause X-linked recessive Emery–Dreifuss muscular dystrophy, cardiac conduction abnormalities and dilated cardiomyopathy.
Protein · UniProt
Emerin
- Gene
- EMD
- Organism
- Homo sapiens (Human)
- Length
- 254 aa
- Molecular mass
- 28,994 Da
- Evidence
- 1: Evidence at protein level
Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments (PubMed:15328537). Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent export pathway (PubMed:16858403). Links centrosomes to the nuclear envelope via a microtubule association (PubMed:17785515). Required for proper localization of non-farnesylated prelamin-A/C (PubMed:19323649). Together with NEMP1, con…
Swiss-Prot (reviewed) · via UniProt
Clinical Trials
5 registered- RECRUITINGObservatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)Pitié-Salpêtrière Hospital · NCT03058185
- RECRUITINGCongenital Muscle Disease Study of Patient and Family Reported Medical InformationCure CMD · NCT01403402
- NARECRUITINGModifying Factors in Striated Muscle LaminopathiesInstitut National de la Santé Et de la Recherche Médicale, France · NCT05394506
- COMPLETEDA Model for Healthy Aging: Moscow Centenarians (AGE-100)Pirogov Russian National Research Medical University · NCT02876809
- COMPLETEDClinical Studies of ProgeriaNational Human Genome Research Institute (NHGRI) · NCT00094393
Wikidata facts
- Image
- Protein EMD PDB 1jei.png
via Wikidata · CC0
~3 min read
Article
7 sectionsContents
- Structure
- Function
- Clinical significance
- Interactions
- References
- Further reading
- External links
Emerin is a protein that in humans is encoded by the EMD gene, also known as the STA gene. Emerin, together with LEMD3, is a LEM domain-containing integral protein of the inner nuclear membrane in vertebrates. Emerin is highly expressed in cardiac and skeletal muscle. In cardiac muscle, emerin localizes to adherens junctions within intercalated discs where it appears to function in mechanotransduction of cellular strain and in beta-catenin signaling. Mutations in emerin cause X-linked recessive Emery–Dreifuss muscular dystrophy, cardiac conduction abnormalities and dilated cardiomyopathy.
It is named after Alan Emery.