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DES

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GENERAL INFORMATION

Gene name

 DES

Gene description

 Desmin

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the intermediate filaments.

RNA cell category

 Group enriched (RH-30, LHCN-M2)

Protein evidence

 Evidence at protein level

Main location

 Localized to the Intermediate filaments (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA018803
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (RH-30, LHCN-M2)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the intermediate filaments.

Main location

 Intermediate filaments (supported)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA018803 RH-30 Intermediate filaments

GENE INFORMATION

Gene name

 DES (HGNC Symbol)

Synonyms

 CMD1I, CSM1, CSM2

Description

 Desmin (HGNC Symbol)

Entrez gene summary

 This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

Chromosome

 2

Cytoband

 q35

Chromosome location (bp)

 219418377 - 219426739

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000175084 (version 83.38)

Entrez gene

 1674

UniProt

 P17661 (UniProt - Evidence at protein level)

neXtProt

 NX_P17661

Antibodypedia

 DES antibodies

PROTEIN BROWSER
DES-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DES-001
ENSP00000363071
ENST00000373960
P17661 [Direct mapping]
Desmin
Q53SB5 [Target identity:100%; Query identity:100%]
Desmin, isoform CRA_a; Putative uncharacterized protein tmp_locus_29
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Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005882 [intermediate filament]
GO:0005916 [fascia adherens]
GO:0006936 [muscle contraction]
GO:0007010 [cytoskeleton organization]
GO:0008016 [regulation of heart contraction]
GO:0008092 [cytoskeletal protein binding]
GO:0030018 [Z disc]
GO:0030049 [muscle filament sliding]
GO:0031594 [neuromuscular junction]
GO:0042383 [sarcolemma]
GO:0042802 [identical protein binding]
GO:0043292 [contractile fiber]
GO:0070062 [extracellular exosome]
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 470 aa
53.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.