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desmin

Summary

Gene Symbol

Organism

Homo sapiens (human)

External Links

NCBI Gene

1674

PubChem

1674

Alliance of Genome Resources

HGNC:2770

JoGo

DES

TogoVar

DES

Annotation

Keyword

ADP-ribosylation
Cardiomyopathy
Cell membrane
Coiled coil
Cytoplasm
Desmin-related myopathy
Disease variant
Intermediate filament
Limb-girdle muscular dystrophy
Methylation
Muscle protein
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Ubl conjugation

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q53SB5
P17661

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
muscle contraction	TAS	9697706
nuclear envelope organization	ISS
cytoskeleton organization	TAS	9736733
regulation of heart contraction	TAS	9697706
intermediate filament organization	IMP	24200904 26724190

GO Hierarchy

biological process

cellular process [inference]

intermediate filament-based process [inference]

intermediate filament cytoskeleton organization [inference]

intermediate filament organization

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization

intermediate filament cytoskeleton organization [inference]

intermediate filament organization

membrane organization [inference]

nuclear envelope organization

supramolecular fiber organization [inference]

intermediate filament organization

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 [inference]

skeletal muscle organ development

muscle structure development [inference]

muscle organ development [inference]

skeletal muscle organ development

biological regulation [inference]

regulation of biological process [inference]

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of blood circulation [inference]

regulation of heart contraction

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
nucleus	ISS
nuclear envelope	ISS
cytoplasm	IBA
cytosol	TAS
intermediate filament	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane [inference]

sarcolemma

Z disc

cell junction [inference]

synapse [inference]

neuromuscular junction

anchoring junction [inference]

cell-cell junction

fascia adherens

cell-cell contact zone [inference]

intercalated disc

envelope [inference]

organelle envelope [inference]

nuclear envelope

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

nucleus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

intermediate filament cytoskeleton

contractile fiber [inference]

myofibril [inference]

cardiac myofibril

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

intermediate filament cytoskeleton

contractile fiber [inference]

myofibril [inference]

cardiac myofibril

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

cell pole [inference]

cell tip

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

contractile fiber [inference]

myofibril [inference]

cardiac myofibril

polymeric cytoskeletal fiber [inference]

intermediate filament

Displaying **all 4** entries
GO Term	Evidence Code	PMID
structural constituent of cytoskeleton	IBA
protein binding	IPI	11353857 16923132 20706999 21135508 23615443 24940650 25416956 26816005 26871637 27107012 27733623 28470624 28514442 32296183 32814053 33961781
cytoskeletal protein binding	IPI	11309420
identical protein binding	IPI	21135508 32296183

GO Hierarchy

molecular function

structural molecule activity [inference]

structural constituent of cytoskeleton

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

internexin neuronal intermediate filament protein, alpha a

Functional Category

I: Lipid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
intermediate filament organization
structural constituent of cytoskeleton

Displaying **all 3** entries
InterPro
Intermediate filament head, DNA-binding domain
Intermediate filament protein, conserved site
Intermediate filament, rod domain

Disease

Disease Ontology

Displaying **all 6** entries
DO ID	Disease Name	Source
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	Alliance of Genome Resources
DOID:0080092	myofibrillar myopathy 1	Alliance of Genome Resources
DOID:0110431	dilated cardiomyopathy 1I	Alliance of Genome Resources
DOID:0111551	neurogenic scapuloperoneal syndrome Kaeser type	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources
DOID:397	restrictive cardiomyopathy	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements