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dystonin

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

667

KEGG Gene ID

PubChem

667

Alliance of Genome Resources

HGNC:1090

Annotation

Keyword

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

Proteins

Displaying **all 8** entries
UniProt	Protein Name
A0A7P0T890	Bullous pemphigoid antigen 1 Dystonia musculorum protein Hemidesmosomal plaque protein
F8W9J4	Bullous pemphigoid antigen 1 Dystonia musculorum protein Hemidesmosomal plaque protein
E9PHM6	Bullous pemphigoid antigen 1 Dystonia musculorum protein Hemidesmosomal plaque protein
Q6P0N6
B4DSS9
Q03001	230 kDa bullous pemphigoid antigen 230/240 kDa bullous pemphigoid antigen Bullous pemphigoid antigen 1 Dystonia musculorum protein Hemidesmosomal plaque protein
F6QMI7	Bullous pemphigoid antigen 1 Dystonia musculorum protein Hemidesmosomal plaque protein
B4DGY0

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 15 in total

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GO Term	Evidence Code	PMID
microtubule cytoskeleton organization	IDA
microtubule cytoskeleton organization	IEA
cytoskeleton organization	IMP
cell adhesion
integrin-mediated signaling pathway	NAS

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

signal transduction [inference]

cell surface receptor signaling pathway [inference]

integrin-mediated signaling pathway

intermediate filament-based process [inference]

intermediate filament cytoskeleton organization

cell motility

cellular localization [inference]

intracellular transport [inference]

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 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

response to stimulus [inference]

response to stress [inference]

response to wounding

wound healing

localization [inference]

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

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 [inference]

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

axo-dendritic transport [inference]

axonal transport [inference]

retrograde axonal transport

cellular localization [inference]

intracellular transport [inference]

cytoskeleton-dependent intracellular transport [inference]

transport along microtubule [inference]

axo-dendritic transport [inference]

axonal transport [inference]

retrograde axonal transport

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

integrin-mediated signaling pathway

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GO Term	Evidence Code	PMID
stress fiber	IEA
basement membrane	TAS
nucleus	ISS
nucleus	IEA
nucleus	HDA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

nucleoplasm

cytoplasm

cell cortex

neuron projection cytoplasm [inference]

axon cytoplasm

cytosol

membrane

plasma membrane

organelle membrane [inference]

endoplasmic reticulum membrane

plasma membrane region [inference]

basal plasma membrane

Z disc

cell junction [inference]

anchoring junction [inference]

cell-substrate junction [inference]

external encapsulating structure [inference]

extracellular matrix [inference]

basement membrane

organelle envelope [inference]

nuclear envelope

actin filament bundle [inference]

contractile actin filament bundle [inference]

stress fiber

actomyosin [inference]

stress fiber

cell projection

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

membraneless organelle [inference]

intracellular membraneless organelle [inference]

cytoskeleton

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular membraneless organelle [inference]

cytoskeleton

cell periphery

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber

microtubule end [inference]

microtubule plus-end

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

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GO Term	Evidence Code	PMID
microtubule binding	IBA
microtubule binding	IEA
protein homodimerization activity	IDA
protein homodimerization activity	IEA
microtubule plus-end binding	IDA

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

small molecule binding [inference]

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 2** entries
DO ID	Disease Name	Source
DOID:0070151	hereditary sensory and autonomic neuropathy type 6	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	Alliance of Genome Resources

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	13518	MGI:104627
Drosophila melanogaster	36542	FB:FBgn0013733

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UniCarb-DR

LM-GlycoRepo

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Acknowledgements