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dystonin

Summary

Gene Symbol

Organism

Mus musculus (house mouse)

External Links

NCBI Gene

13518

PubChem

13518

Alliance of Genome Resources

MGI:104627

Annotation

Keyword

3D-structure
Actin-binding
Alternative promoter usage
Alternative splicing
Calcium
Cell adhesion
Cell junction
Cell membrane
Cell projection
Coiled coil
Cytoskeleton
Direct protein sequencing
Endoplasmic reticulum
Intermediate filament
Isopeptide bond
Metal-binding
Microtubule
Muscle protein
Myristate
Nucleus
Palmitate
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
SH3 domain
Transmembrane
Ubl conjugation

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q91ZU6	Bullous pemphigoid antigen 1 Dystonia musculorum protein Hemidesmosomal plaque protein Microtubule actin cross-linking factor 2
S4R1P5

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **6 - 10** of 12 in total

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GO Term	Evidence Code	PMID
intermediate filament cytoskeleton organization	IBA ISS
response to wounding	ISO
intracellular transport	IDA	14576348
cell adhesion	IEA
retrograde axonal transport	IMP	14581450 17287360

GO Hierarchy

biological process

cellular process [inference]

microtubule-based process [inference]

microtubule cytoskeleton organization

microtubule-based movement [inference]

transport along microtubule [inference]

axo-dendritic transport [inference]

axonal transport [inference]

retrograde axonal transport

cell adhesion

establishment or maintenance of cell polarity [inference]

maintenance of cell polarity

intermediate filament-based process [inference]

intermediate filament cytoskeleton organization

cell motility

cellular localization [inference]

intracellular transport

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

axo-dendritic transport [inference]

axonal transport [inference]

retrograde axonal transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization

cellular component assembly [inference]

cell junction assembly [inference]

cell-substrate junction assembly [inference]

hemidesmosome assembly

cell projection organization [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis [inference]

axonogenesis

cell junction organization [inference]

cell junction assembly [inference]

cell-substrate junction assembly [inference]

hemidesmosome assembly

cell-substrate junction organization [inference]

cell-substrate junction assembly [inference]

hemidesmosome assembly

developmental process [inference]

anatomical structure morphogenesis [inference]

cellular anatomical entity morphogenesis [inference]

cell projection morphogenesis [inference]

plasma membrane bounded cell projection morphogenesis [inference]

neuron projection morphogenesis [inference]

axonogenesis

response to stimulus [inference]

response to stress [inference]

response to wounding

wound healing

localization [inference]

establishment of localization [inference]

transport [inference]

intracellular transport

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

axo-dendritic transport [inference]

axonal transport [inference]

retrograde axonal transport

microtubule-based transport [inference]

transport along microtubule [inference]

axo-dendritic transport [inference]

axonal transport [inference]

retrograde axonal transport

establishment of localization in cell [inference]

intracellular transport

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

axo-dendritic transport [inference]

axonal transport [inference]

retrograde axonal transport

cellular localization [inference]

intracellular transport

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

axo-dendritic transport [inference]

axonal transport [inference]

retrograde axonal transport

Displaying entries **1 - 5** of 29 in total

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GO Term	Evidence Code	PMID
cytoplasmic vesicle	ISO	14581450
intermediate filament	IDA	19932097
nucleus	IDA	14576348 16289082
axon	IDA ISO	17287360
intermediate filament cytoskeleton	ISO

GO Hierarchy

cellular component

cellular anatomical entity [inference]

nucleoplasm

cytoplasm

cell cortex

cytoplasmic region [inference]

plasma membrane bounded cell projection cytoplasm [inference]

neuron projection cytoplasm [inference]

axon cytoplasm

cytosol

membrane

plasma membrane [inference]

sarcolemma

organelle membrane [inference]

endoplasmic reticulum membrane

Z disc

cell junction [inference]

anchoring junction [inference]

cell-cell junction [inference]

cell-cell contact zone [inference]

intercalated disc

cell-substrate junction [inference]

envelope [inference]

organelle envelope [inference]

nuclear envelope

actin filament bundle [inference]

contractile actin filament bundle [inference]

stress fiber

actomyosin [inference]

stress fiber

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular membrane-bounded organelle [inference]

nucleus

intracellular vesicle [inference]

cytoplasmic vesicle

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

postsynaptic specialization [inference]

postsynaptic density

side of membrane [inference]

cytoplasmic side of membrane [inference]

cytoplasmic side of plasma membrane

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

intermediate filament

type III intermediate filament

microtubule end [inference]

microtubule plus-end

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
structural molecule activity	IBA
integrin binding	ISO
actin binding	IEA
calcium ion binding	IEA
protein binding	IPI	14581450 17287360 18638474 19932097 21689717 9971739

GO Hierarchy

molecular function

structural molecule activity

binding [inference]

protein binding

signaling receptor binding [inference]

integrin binding

cytoskeletal protein binding [inference]

actin binding

tubulin binding [inference]

microtubule binding

microtubule plus-end binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

cell adhesion molecule binding [inference]

integrin binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

protein-containing complex binding [inference]

integrin binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0050548	hereditary sensory neuropathy	Alliance of Genome Resources
DOID:0070151	hereditary sensory and autonomic neuropathy type 6	Alliance of Genome Resources
DOID:162	cancer	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

International Collaboration

Acknowledgements