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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)

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GO Term	Evidence Code	PMID
response to wounding	ISO
wound healing	IBA
microtubule cytoskeleton organization	ISO
retrograde axonal transport	IMP	14581450 17287360
intracellular transport	IDA	14576348

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 **6 - 10** of 29 in total

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GO Term	Evidence Code	PMID
sarcolemma	IDA IEA	20209123
postsynaptic density	IDA	17114649
endoplasmic reticulum membrane	IDA IEA	18638474
perinuclear endoplasmic reticulum	IDA	16289082
type III intermediate filament	IDA	19932097

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

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GO Term	Evidence Code	PMID
structural molecule activity	IBA
protein homodimerization activity	IDA ISO	14576348
microtubule plus-end binding	ISO ISS

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.

OrthoDB (Group)

Group level

Rodentia

Group Name

dystonin

Functional Category

J: Translation, ribosomal structure and biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms
V: Defense mechanisms

Displaying **all 10** entries
Gene Ontology
actin binding
calcium ion binding
hemidesmosome assembly
intermediate filament bundle assembly
intermediate filament cytoskeleton organization
keratin filament binding
metal ion binding
microtubule binding
structural molecule activity
wound healing

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

Ortholog

Displaying entries **21 - 30** of 61 in total

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Species	Gene ID	OrthoDB	Orthologous MAtrix
Peromyscus maniculatus bairdii	102929113	230844_0:0048df
Carlito syrichta	103255705		CARSF25561
Nannospalax galili	103744675	1026970_0:003261
Fukomys damarensis	104857820	885580_0:0035a1
Macaca nemestrina	105479539		MACNE17115
Mandrillus leucophaeus	105555241		MANLE28009
Cercocebus atys	105589916		CERAT04429
Aotus nancymaae	105709573		AOTNA15002
Dipodomys ordii	105987790	10020_0:00209b	DIPOR13402
Capra hircus	106503471		CAPHI15919

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements