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emerin

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

2010

PubChem

2010

Alliance of Genome Resources

HGNC:3331

JoGo

EMD

TogoVar

EMD

Annotation

Keyword

3D-structure
Acetylation
Actin-binding
Cardiomyopathy
Direct protein sequencing
Disease variant
Emery-Dreifuss muscular dystrophy
Microtubule
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
P50402

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **6 - 10** of 11 in total

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GO Term	Evidence Code	PMID
regulation of canonical Wnt signaling pathway	IMP	16858403
cellular response to growth factor stimulus	IMP	16858403
nuclear membrane organization	IMP	32923640
negative regulation of canonical Wnt signaling pathway	IMP	16858403
negative regulation of canonical Wnt signaling pathway	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

amyloid fibril formation

primary metabolic process [inference]

protein metabolic process [inference]

amyloid fibril formation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

amyloid fibril formation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

amyloid fibril formation

cellular process [inference]

cellular developmental process [inference]

cell differentiation [inference]

skeletal muscle cell differentiation

cellular component organization or biogenesis [inference]

cellular component organization [inference]

membrane organization [inference]

nuclear membrane organization

supramolecular fiber organization [inference]

amyloid fibril formation

multicellular organismal process [inference]

system process [inference]

muscle system process [inference]

muscle contraction

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

muscle organ development

muscle structure development [inference]

muscle organ development

cellular developmental process [inference]

cell differentiation [inference]

skeletal muscle cell differentiation

response to stimulus [inference]

response to endogenous stimulus [inference]

response to growth factor [inference]

cellular response to growth factor stimulus

cellular response to endogenous stimulus [inference]

cellular response to growth factor stimulus

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of Wnt signaling pathway [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of canonical Wnt signaling pathway

negative regulation of canonical Wnt signaling pathway

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of localization [inference]

regulation of transport [inference]

regulation of intracellular transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

regulation of intracellular protein transport [inference]

regulation of protein export from nucleus [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

regulation of nucleocytoplasmic transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

regulation of protein export from nucleus [inference]

positive regulation of protein export from nucleus

positive regulation of transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

regulation of protein transport [inference]

regulation of intracellular protein transport [inference]

regulation of protein export from nucleus [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

regulation of intracellular protein transport [inference]

regulation of protein export from nucleus [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

regulation of nucleocytoplasmic transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

regulation of protein export from nucleus [inference]

positive regulation of protein export from nucleus

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein transport [inference]

regulation of intracellular protein transport [inference]

regulation of protein export from nucleus [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of intracellular transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of fibroblast proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of Wnt signaling pathway [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of canonical Wnt signaling pathway

negative regulation of canonical Wnt signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of Wnt signaling pathway [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of canonical Wnt signaling pathway

negative regulation of canonical Wnt signaling pathway

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of cell population proliferation [inference]

negative regulation of cell population proliferation [inference]

negative regulation of fibroblast proliferation

regulation of fibroblast proliferation [inference]

negative regulation of fibroblast proliferation

positive regulation of cellular process [inference]

positive regulation of intracellular transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

negative regulation of cellular process [inference]

negative regulation of cell population proliferation [inference]

negative regulation of fibroblast proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

regulation of intracellular protein transport [inference]

regulation of protein export from nucleus [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

regulation of nucleocytoplasmic transport [inference]

positive regulation of nucleocytoplasmic transport [inference]

positive regulation of protein export from nucleus

regulation of protein export from nucleus [inference]

positive regulation of protein export from nucleus

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein transport [inference]

regulation of intracellular protein transport [inference]

regulation of protein export from nucleus [inference]

positive regulation of protein export from nucleus

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

Displaying entries **6 - 10** of 18 in total

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GO Term	Evidence Code	PMID
nuclear inner membrane	IBA
nuclear outer membrane	IDA	17785515
nucleoplasm	IDA	27534416
cytoplasm	IDA	27534416
endoplasmic reticulum	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

microtubule organizing center [inference]

centrosome [inference]

spindle pole centrosome

cytosol

membrane

outer membrane [inference]

organelle outer membrane [inference]

nuclear outer membrane

organelle membrane [inference]

organelle inner membrane [inference]

nuclear inner membrane

nuclear membrane

bounding membrane of organelle [inference]

organelle outer membrane [inference]

nuclear outer membrane

envelope [inference]

organelle envelope [inference]

nuclear envelope

organelle subcompartment [inference]

endoplasmic reticulum subcompartment [inference]

endoplasmic reticulum tubular network [inference]

cortical endoplasmic reticulum

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

spindle

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

spindle

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

microtubule

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
actin binding	IDA	15328537
actin binding	IBA
protein binding	IPI	11313760 11587540 12163176 14597414 15009215 15328537 15671068 16169070 16189514 16858403 17462627 19323649 19933576 21346760 21391237 21610090 22399800 25416956 25502805 25910212 27107012 29568061 30488537 30833792 31515488 32296183 32814053 35271311
cadherin binding	HDA	25468996
beta-tubulin binding	IDA	17785515

GO Hierarchy

molecular function

binding [inference]

protein binding

cytoskeletal protein binding [inference]

actin binding

tubulin binding [inference]

beta-tubulin binding

cell adhesion molecule binding [inference]

cadherin binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources

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