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dystonin

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

667

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
Cytoplasm
Cytoskeleton
Endoplasmic reticulum
Epidermolysis bullosa
Intermediate filament
Isopeptide bond
Membrane
Metal-binding
Microtubule
Muscle protein
Neurodegeneration
Neuropathy
Nucleus
Palmitate
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
SH3 domain
Transmembrane
Ubl conjugation

Proteins

Displaying **all 6** entries
UniProt	Protein Name
F6QMI7
B4DGY0
B4DSS9
Q6P0N6
Q03001	230 kDa bullous pemphigoid antigen 230/240 kDa bullous pemphigoid antigen Bullous pemphigoid antigen 1 Dystonia musculorum protein Hemidesmosomal plaque protein
E9PHM6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
microtubule cytoskeleton organization	IDA	10428034
cytoskeleton organization	IMP	19403692
cell adhesion	IEA
integrin-mediated signaling pathway	NAS	11375975
retrograde axonal transport	ISS

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

Displaying entries **1 - 5** of 30 in total

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GO Term	Evidence Code	PMID
stress fiber	IEA
basement membrane	TAS	2461961
nucleus	HDA	21630459
nuclear envelope	IEA
nucleoplasm	IDA

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

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]

collagen-containing extracellular matrix [inference]

basement membrane

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]

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

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
actin binding	IEA
integrin binding	IPI	11375975
structural molecule activity	IBA
calcium ion binding	IEA
protein binding	IPI	11375975 12482924 17043677 19632184 19932097 21911577 22995871 23414517 26496610 28514442 31413325 33961781 35271311

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

Eukaryota

Group Name

EF-hand domain

Functional Category

C: Energy production and conversion
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying entries **1 - 10** of 11 in total

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Gene Ontology
actin binding
calcium ion binding
cytoskeletal protein binding
hemidesmosome assembly
intermediate filament bundle assembly
intermediate filament cytoskeleton organization
keratin filament binding
metal ion binding
microtubule binding
structural molecule activity

Displaying **all 4** entries
InterPro
CH domain superfamily
Calponin homology domain
Plakin
Plectin-like, spectrin-like repeat

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 9** entries
Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	667	Xenbase:XB-GENE-1002426
Xenopus tropicalis	13518	Xenbase:XB-GENE-1002426
Drosophila melanogaster	23499	FB:FBgn0013733
Xenopus tropicalis	36542	Xenbase:XB-GENE-1002426
Pongo abelii	100174353		PONAB30753
Felis catus	101098224		FELCA11031
Sinocyclocheilus grahami	107552386		SINGR74074
Rhinolophus ferrumequinum	117020551		RHIFE11046
Panthera leo	122220042		PANLE15825

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements