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Protein

Emerin

Gene

EMD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. 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. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. Required for proper localization of non-farnesylated prelamin-A/C.5 Publications

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • beta-tubulin binding Source: UniProtKB
  • cadherin binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

ReactomeiR-HSA-2993913 Clearance of Nuclear Envelope Membranes from Chromatin
R-HSA-2995383 Initiation of Nuclear Envelope Reformation
R-HSA-4419969 Depolymerisation of the Nuclear Lamina
SIGNORiP50402

Names & Taxonomyi

Protein namesi
Recommended name:
Emerin
Gene namesi
Name:EMD
Synonyms:EDMD, STA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000102119.10
HGNCiHGNC:3331 EMD
MIMi300384 gene
neXtProtiNX_P50402

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei223 – 243HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Microtubule, Nucleus

Pathology & Biotechi

Involvement in diseasei

Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
See also OMIM:310300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00519854S → F in EDMD1; no loss of binding to F-actin, enhanced rate of actin polymerization and loss of binding to BCLAF1. 2 Publications1
Natural variantiVAR_016016133Q → H in EDMD1; loss of binding to F-actin. 2 Publications1
Natural variantiVAR_005199183P → H in EDMD1; no loss of binding to F-actin and enhanced rate of actin polymerization. 2 PublicationsCorresponds to variant dbSNP:rs104894805EnsemblClinVar.1
Natural variantiVAR_005200183P → T in EDMD1. 1 PublicationCorresponds to variant dbSNP:rs104894806EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi49S → A: Abolishes phosphorylation. No effect on targeting to nuclear envelope nor on interaction with LMNA. 1 Publication1
Mutagenesisi49S → E: Mimics phosphorylation. No effect on targeting to nuclear envelope nor on interaction with LMNA. 1 Publication1
Mutagenesisi196S → A: No loss of binding to F-actin; when associated with A-197. 1 Publication1
Mutagenesisi197S → A: No loss of binding to F-actin; when associated with A-196. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Emery-Dreifuss muscular dystrophy

Organism-specific databases

DisGeNETi2010
GeneReviewsiEMD
MalaCardsiEMD
MIMi310300 phenotype
OpenTargetsiENSG00000102119
Orphaneti98863 X-linked Emery-Dreifuss muscular dystrophy
PharmGKBiPA27766

Polymorphism and mutation databases

BioMutaiEMD
DMDMi1706639

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002061401 – 254EmerinAdd BLAST254

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei8PhosphoserineCombined sources1
Modified residuei29PhosphoserineCombined sources1
Modified residuei49Phosphoserine; by PKACombined sources1 Publication1
Modified residuei54PhosphoserineCombined sources1
Modified residuei60PhosphoserineCombined sources1
Modified residuei87PhosphoserineCombined sources1
Modified residuei98PhosphoserineCombined sources1
Modified residuei141PhosphoserineBy similarity1
Modified residuei142PhosphoserineBy similarity1
Modified residuei143PhosphoserineBy similarity1
Modified residuei161PhosphotyrosineBy similarity1
Modified residuei171PhosphoserineCombined sources1
Modified residuei173PhosphoserineCombined sources1
Modified residuei175PhosphoserineBy similarity1

Post-translational modificationi

Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle.2 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP50402
PaxDbiP50402
PeptideAtlasiP50402
PRIDEiP50402
ProteomicsDBi56218
TopDownProteomicsiP50402

PTM databases

iPTMnetiP50402
PhosphoSitePlusiP50402

Expressioni

Tissue specificityi

Skeletal muscle, heart, colon, testis, ovary and pancreas.

Gene expression databases

BgeeiENSG00000102119 Expressed in 222 organ(s), highest expression level in esophagogastric junction muscularis propria
CleanExiHS_EMD
ExpressionAtlasiP50402 baseline and differential
GenevisibleiP50402 HS

Organism-specific databases

HPAiCAB001545
CAB002029
CAB062552
HPA000609

Interactioni

Subunit structurei

Interacts with lamins A and C, BANF1, GMCL, BCLAF1 and YTHDC1/YT521. Interacts with TMEM43; the interaction retains emerin in the nuclear inner membrane. Interacts with SUN1 and SUN2 (By similarity). Interacts with ACTB, SPTAN1, F-actin, CTNNB1 and beta-tubulin. Interacts with TMEM201.By similarity10 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108325, 183 interactors
CORUMiP50402
DIPiDIP-34638N
IntActiP50402, 157 interactors
MINTiP50402
STRINGi9606.ENSP00000358857

Structurei

Secondary structure

1254
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP50402
SMRiP50402
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50402

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 45LEMPROSITE-ProRule annotationAdd BLAST45

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni46 – 222Interaction with F-actinCuratedAdd BLAST177
Regioni168 – 186Interaction with CTNNB11 PublicationAdd BLAST19

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi192 – 199Poly-Ser8

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJ10 Eukaryota
ENOG410ZEWX LUCA
GeneTreeiENSGT00390000002034
HOGENOMiHOG000081509
HOVERGENiHBG001099
InParanoidiP50402
KOiK12569
OMAiSVDSDMY
OrthoDBiEOG091G0M7U
PhylomeDBiP50402
TreeFamiTF337236

Family and domain databases

CDDicd12939 LEM_emerin, 1 hit
Gene3Di1.10.720.40, 1 hit
InterProiView protein in InterPro
IPR035004 Emerin
IPR011015 LEM/LEM-like_dom_sf
IPR003887 LEM_dom
IPR034989 LEM_emerin
PANTHERiPTHR15171 PTHR15171, 1 hit
PfamiView protein in Pfam
PF03020 LEM, 1 hit
SMARTiView protein in SMART
SM00540 LEM, 1 hit
SUPFAMiSSF63451 SSF63451, 1 hit
PROSITEiView protein in PROSITE
PS50954 LEM, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P50402-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDNYADLSDT ELTTLLRRYN IPHGPVVGST RRLYEKKIFE YETQRRRLSP
60 70 80 90 100
PSSSAASSYS FSDLNSTRGD ADMYDLPKKE DALLYQSKGY NDDYYEESYF
110 120 130 140 150
TTRTYGEPES AGPSRAVRQS VTSFPDADAF HHQVHDDDLL SSSEEECKDR
160 170 180 190 200
ERPMYGRDSA YQSITHYRPV SASRSSLDLS YYPTSSSTSF MSSSSSSSSW
210 220 230 240 250
LTRRAIRPEN RAPGAGLGQD RQVPLWGQLL LFLVFVIVLF FIYHFMQAEE

GNPF
Length:254
Mass (Da):28,994
Last modified:October 1, 1996 - v1
Checksum:iEB62EDD59B7A044F
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5HY57Q5HY57_HUMAN
Emerin (Emery-Dreifuss muscular dys...
EMD hCG_41343
219Annotation score:
F8WEQ1F8WEQ1_HUMAN
Emerin
EMD
21Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00519854S → F in EDMD1; no loss of binding to F-actin, enhanced rate of actin polymerization and loss of binding to BCLAF1. 2 Publications1
Natural variantiVAR_016016133Q → H in EDMD1; loss of binding to F-actin. 2 Publications1
Natural variantiVAR_038433149D → H. Corresponds to variant dbSNP:rs2070818EnsemblClinVar.1
Natural variantiVAR_005199183P → H in EDMD1; no loss of binding to F-actin and enhanced rate of actin polymerization. 2 PublicationsCorresponds to variant dbSNP:rs104894805EnsemblClinVar.1
Natural variantiVAR_005200183P → T in EDMD1. 1 PublicationCorresponds to variant dbSNP:rs104894806EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X82434 mRNA Translation: CAA57817.1
L44140 Genomic DNA Translation: AAA92645.1
D64111 Genomic DNA Translation: BAA10972.1
X86810 Genomic DNA Translation: CAA60500.1
BT007401 mRNA Translation: AAP36065.1
CR536536 mRNA Translation: CAG38773.1
BX936346 Genomic DNA No translation available.
CH471172 Genomic DNA Translation: EAW72742.1
BC000738 mRNA Translation: AAH00738.1
CCDSiCCDS14745.1
PIRiS50834
RefSeqiNP_000108.1, NM_000117.2
UniGeneiHs.522823

Genome annotation databases

EnsembliENST00000369842; ENSP00000358857; ENSG00000102119
GeneIDi2010
KEGGihsa:2010
UCSCiuc004fkl.4 human

Similar proteinsi

Cross-referencesi

Web resourcesi

EMD db

"EMD mutation database"

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X82434 mRNA Translation: CAA57817.1
L44140 Genomic DNA Translation: AAA92645.1
D64111 Genomic DNA Translation: BAA10972.1
X86810 Genomic DNA Translation: CAA60500.1
BT007401 mRNA Translation: AAP36065.1
CR536536 mRNA Translation: CAG38773.1
BX936346 Genomic DNA No translation available.
CH471172 Genomic DNA Translation: EAW72742.1
BC000738 mRNA Translation: AAH00738.1
CCDSiCCDS14745.1
PIRiS50834
RefSeqiNP_000108.1, NM_000117.2
UniGeneiHs.522823

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JEINMR-A2-54[»]
2ODCNMR-I2-47[»]
2ODGNMR-C2-47[»]
6GHDX-ray2.10G/H2-45[»]
ProteinModelPortaliP50402
SMRiP50402
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108325, 183 interactors
CORUMiP50402
DIPiDIP-34638N
IntActiP50402, 157 interactors
MINTiP50402
STRINGi9606.ENSP00000358857

PTM databases

iPTMnetiP50402
PhosphoSitePlusiP50402

Polymorphism and mutation databases

BioMutaiEMD
DMDMi1706639

Proteomic databases

EPDiP50402
PaxDbiP50402
PeptideAtlasiP50402
PRIDEiP50402
ProteomicsDBi56218
TopDownProteomicsiP50402

Protocols and materials databases

DNASUi2010
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369842; ENSP00000358857; ENSG00000102119
GeneIDi2010
KEGGihsa:2010
UCSCiuc004fkl.4 human

Organism-specific databases

CTDi2010
DisGeNETi2010
EuPathDBiHostDB:ENSG00000102119.10
GeneCardsiEMD
GeneReviewsiEMD
HGNCiHGNC:3331 EMD
HPAiCAB001545
CAB002029
CAB062552
HPA000609
MalaCardsiEMD
MIMi300384 gene
310300 phenotype
neXtProtiNX_P50402
OpenTargetsiENSG00000102119
Orphaneti98863 X-linked Emery-Dreifuss muscular dystrophy
PharmGKBiPA27766
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ10 Eukaryota
ENOG410ZEWX LUCA
GeneTreeiENSGT00390000002034
HOGENOMiHOG000081509
HOVERGENiHBG001099
InParanoidiP50402
KOiK12569
OMAiSVDSDMY
OrthoDBiEOG091G0M7U
PhylomeDBiP50402
TreeFamiTF337236

Enzyme and pathway databases

ReactomeiR-HSA-2993913 Clearance of Nuclear Envelope Membranes from Chromatin
R-HSA-2995383 Initiation of Nuclear Envelope Reformation
R-HSA-4419969 Depolymerisation of the Nuclear Lamina
SIGNORiP50402

Miscellaneous databases

ChiTaRSiEMD human
EvolutionaryTraceiP50402
GeneWikiiEmerin
GenomeRNAii2010
PROiPR:P50402
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102119 Expressed in 222 organ(s), highest expression level in esophagogastric junction muscularis propria
CleanExiHS_EMD
ExpressionAtlasiP50402 baseline and differential
GenevisibleiP50402 HS

Family and domain databases

CDDicd12939 LEM_emerin, 1 hit
Gene3Di1.10.720.40, 1 hit
InterProiView protein in InterPro
IPR035004 Emerin
IPR011015 LEM/LEM-like_dom_sf
IPR003887 LEM_dom
IPR034989 LEM_emerin
PANTHERiPTHR15171 PTHR15171, 1 hit
PfamiView protein in Pfam
PF03020 LEM, 1 hit
SMARTiView protein in SMART
SM00540 LEM, 1 hit
SUPFAMiSSF63451 SSF63451, 1 hit
PROSITEiView protein in PROSITE
PS50954 LEM, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEMD_HUMAN
AccessioniPrimary (citable) accession number: P50402
Secondary accession number(s): Q6FI02
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: October 10, 2018
This is version 201 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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