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EMD emerin [ Homo sapiens (human) ]

Gene ID: 2010, updated on 19-Aug-2018

Summary

Official Symbol
EMDprovided by HGNC
Official Full Name
emerinprovided by HGNC
Primary source
HGNC:HGNC:3331
See related
Ensembl:ENSG00000102119 MIM:300384; Vega:OTTHUMG00000033186
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
STA; EDMD; LEMD5
Summary
Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 27.0), ovary (RPKM 26.0) and 25 other tissues See more
Orthologs

Genomic context

See EMD in Genome Data Viewer
Location:
Xq28
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (154379236..154381523)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153607597..153609883)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373386 Neighboring gene Xq28 proximal FLNA-EMD recombination region Neighboring gene filamin A Neighboring gene Xq28 distal FLNA-EMD recombination region Neighboring gene ribosomal protein L10 Neighboring gene small nucleolar RNA, H/ACA box 70

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with EMD PubMed
Tat tat Interaction of HIV-1 Tat with emerin in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed
integrase gag-pol Barrier-to-autointegration factor (BAF) is required for the association of viral cDNA with emerin and for chromatin engagement by viral cDNA before integration, indicating potential interactions between BAF, emerin and HIV-1 integrase PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Clearance of Nuclear Envelope Membranes from Chromatin, organism-specific biosystem (from REACTOME)
    Clearance of Nuclear Envelope Membranes from Chromatin, organism-specific biosystemIn mitotic prophase, chromatin detaches from the nuclear envelope, and this contributes to the nuclear envelope breakdown. VRK1 (and possibly VRK2) mediated phosphorylation of BANF1 (BAF), a protein ...
  • Depolymerisation of the Nuclear Lamina, organism-specific biosystem (from REACTOME)
    Depolymerisation of the Nuclear Lamina, organism-specific biosystemThe nuclear envelope breakdown in mitotic prophase involves depolymerisation of lamin filaments, the main constituents of the nuclear lamina. The nuclear lamina is located at the nuclear face of the ...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Initiation of Nuclear Envelope Reformation, organism-specific biosystem (from REACTOME)
    Initiation of Nuclear Envelope Reformation, organism-specific biosystemReassembly of the nuclear envelope is initiated at late anaphase/early telophase when BANF1 (BAF) accumulates on the decondensing chromosome mass close to the spindle ('core' region), together with E...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prophase, organism-specific biosystem (from REACTOME)
    Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...
  • Nuclear Envelope Breakdown, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Breakdown, organism-specific biosystemThe nuclear envelope breakdown (NEBD) happens in late prophase of mitosis and involves disassembly of the nuclear pore complex, depolymerization of the nuclear lamina, and clearance of nuclear envelo...
  • Nuclear Envelope Reassembly, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Reassembly, organism-specific biosystemThe reassembly of the nuclear envelope (NE) around separated sister chromatids begins in late anaphase and is completed in telophase. Nuclear pore complexes (NPCs) reassemble and insert into the refo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
beta-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with cortical endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear envelope IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
 
nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear inner membrane NAS
Non-traceable Author Statement
more info
PubMed 
nuclear membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nuclear outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
spindle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with spindle pole centrosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
emerin
Names
LEM domain containing 5

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008677.1 RefSeqGene

    Range
    9802..12088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_745

mRNA and Protein(s)

  1. NM_000117.2NP_000108.1  emerin

    See identical proteins and their annotated locations for NP_000108.1

    Status: REVIEWED

    Source sequence(s)
    BC000738, CX781694
    Consensus CDS
    CCDS14745.1
    UniProtKB/Swiss-Prot
    P50402
    Related
    ENSP00000358857.4, OTTHUMP00000031938, ENST00000369842.8, OTTHUMT00000080921
    Conserved Domains (1) summary
    cd12939
    Location:446
    LEM_emerin; LEM (Lap2/Emerin/Man1) domain found in emerin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    154379236..154381523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452349.1XP_024308117.1  emerin isoform X1

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