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Emerin information


EMD
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEMD, EDMD, LEMD5, STA, emerin
External IDsOMIM: 300384 MGI: 108117 HomoloGene: 91 GeneCards: EMD
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000117

NM_007927

RefSeq (protein)

NP_000108

NP_031953

Location (UCSC)Chr X: 154.38 – 154.38 MbChr X: 73.3 – 73.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102119 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001964 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Peter Harper, Lois Reynolds, Tilli Tansey, eds. (2010). Clinical Genetics in Britain: Origins and development. Wellcome Witnesses to Contemporary Medicine. History of Modern Biomedicine Research Group. pp. 118–119. ISBN 978-0-85484-127-1. Wikidata Q29581774.

and 23 Related for: Emerin information

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Emerin

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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...

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Nuclear lamina

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most important are lamina associated polypeptides 1 and 2 (LAP1, LAP2), emerin, lamin B-receptor (LBR), otefin and MAN1. Due to their positioning within...

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EMD

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States, a German pharmaceutical company Electrolytic manganese dioxide Emerin Empirical mode decomposition Equilibrium mode distribution ReadyBoost, disk-caching...

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Cell nucleus

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nuclear lamina. Lamins found on the cytosolic face of the membrane, such as emerin and nesprin, bind to the cytoskeleton to provide structural support. Lamins...

Word Count : 9883

Laminopathy

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nuclear envelope protein emerin appears to be crucial in muscle cells, with certain mutations in lamin mimicking mutations in emerin and causing Emery–Dreifuss...

Word Count : 3382

Alan Emery

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Both Emery–Dreifuss muscular dystrophy and its defective protein product, emerin, are named after him (the former jointly with Fritz E. Dreifuss)). Peter...

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German Brazilians

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in Brazil German Adapted Birnbaum Pereira Diemer Dimer or Timer Emmerich Emerin Frazen França Goedems Goettems Greis Krais Hahn Hánn Herzenritter Heizeriter...

Word Count : 10846

Inner nuclear membrane protein

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lamina-associated polypeptide 1 (LAP1), lamina-associated polypeptide-2 (LAP2), emerin and MAN1. Several integral nuclear membrane proteins of different size and...

Word Count : 1709

Aspergillus turkensis

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in Turkey. It has been reported to produce an austocystin, deflectins, emerin, and a shamixanthone. A. turkensis has been cultivated on both Czapek yeast...

Word Count : 178

Barrier to autointegration factor 1

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lamina. It also associates with the LEM Domain containing proteins LAP2, Emerin, and MAN1. The protein's DNA binding ability is modulated by ATP concentration...

Word Count : 1099

Yosef Gruenbaum

Last Update:

K, Lamm AT, Feinstein N, Haithcock E, Wilson KL, Liu J, Gruenbaum Y. Ce-emerin and LEM-2: essential roles in Caenorhabditis elegans development, muscle...

Word Count : 698

Actin

Last Update:

PMC 3412960. PMID 22448045. Holaska JM, Kowalski AK, Wilson KL (Sep 2004). "Emerin caps the pointed end of actin filaments: evidence for an actin cortical...

Word Count : 17979

Caraulun River

Last Update:

merges with the Colihuno River (see above) to form the Caraulun River. Emerin River: rises in western Manufahi municipality on the northern outskirts...

Word Count : 3887

Piana degli Albanesi

Last Update:

Siçilsë Fusha e Arbreshëvet, pa drejtesi e thirrë edhè e përnjohur nën emërin i pa drejtë Piana dei Greci. Gjografikët e shkrimtarët të shekulit XVIII...

Word Count : 6776

TMEM43

Last Update:

protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane. However, the localization of TMEM43 in myocardial...

Word Count : 914

SYNE2

Last Update:

et al. (2005). "Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle"...

Word Count : 1178

PSME1

Last Update:

different isoforms have been identified. PSME1 has been shown to interact with: Emerin and PSME2. ENSG00000284916 GRCh38: Ensembl release 89: ENSG00000092010,...

Word Count : 1255

BCLAF1

Last Update:

1038/nature02055. PMID 14574404. Haraguchi T, Holaska JM, Yamane M, et al. (2004). "Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted...

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YTHDC1

Last Update:

YTHDC1 has been shown to interact with: Abl gene, C-src tyrosine kinase, Emerin, KHDRBS1. and Metadherin Alternative splicing is altered in a number of...

Word Count : 1247

LMO7

Last Update:

Rais-Bahrami S, Wilson KL (2007). "Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes". Hum...

Word Count : 792

ACTG2

Last Update:

muscle actin found in enteric tissues. ACTG2 has been shown to interact with Emerin. GRCh38: Ensembl release 89: ENSG00000163017 – Ensembl, May 2017 GRCm38:...

Word Count : 1017

Cizre District

Last Update:

Katran (Bazift) Kayaköy (Pêlisî) Kebeli (Babil) Keruh (Karox) Kocapınar (Emerin) Koçtepe (Tirehfêrik) Korucu (Derbacîya) Kurtuluş (Basisk) Kuştepe (Mûsîrê)...

Word Count : 229

TOR1AIP1

Last Update:

Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance. Dev Cell. 26:591-603....

Word Count : 813

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