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emerin

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

2010

KEGG Gene ID

PubChem

2010

Alliance of Genome Resources

HGNC:3331

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 **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
muscle contraction	TAS
muscle organ development	TAS
skeletal muscle cell differentiation
positive regulation of protein export from nucleus	IMP
negative regulation of fibroblast proliferation	IMP

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

amyloid fibril formation

primary metabolic process [inference]

protein metabolic process [inference]

amyloid fibril formation

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 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 protein transport [inference]

positive regulation of intracellular protein transport [inference]

positive regulation of protein export from nucleus

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

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 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

positive regulation 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 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 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

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

Displaying entries **6 - 10** of 23 in total

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GO Term	Evidence Code	PMID
nuclear inner membrane	NAS
nuclear inner membrane	IDA
nuclear inner membrane	IBA
nuclear inner membrane	IEA
nuclear outer membrane	IDA

GO Hierarchy

cellular component

cellular anatomical structure [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

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]

membraneless organelle [inference]

intracellular membraneless organelle [inference]

spindle

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular membraneless 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
actin binding	IBA
protein binding	IPI
cadherin binding	HDA
beta-tubulin binding	IDA

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:12930	dilated cardiomyopathy	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy	Alliance of Genome Resources
DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1	Alliance of Genome Resources

Ortholog

Displaying 1 entry
Species	Gene ID	Alliance of Genome Resources
Mus musculus	13726	MGI:108117

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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External Links

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International Collaboration

Acknowledgements