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Protein

Desmin

Gene

Des

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:25394388). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction (PubMed:27102488).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei353Stutter1

GO - Molecular functioni

  • cytoskeletal protein binding Source: MGI
  • identical protein binding Source: MGI
  • structural constituent of cytoskeleton Source: MGI

GO - Biological processi

  • intermediate filament organization Source: UniProtKB
  • muscle organ development Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Enzyme and pathway databases

ReactomeiR-MMU-390522. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Desmin
Gene namesi
Name:Des
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 1

Organism-specific databases

MGIiMGI:94885. Des.

Subcellular locationi

GO - Cellular componenti

  • contractile fiber Source: MGI
  • cytoplasm Source: MGI
  • cytoskeleton Source: MGI
  • extracellular exosome Source: MGI
  • fascia adherens Source: MGI
  • intercalated disc Source: MGI
  • intermediate filament Source: UniProtKB-KW
  • intermediate filament cytoskeleton Source: MGI
  • intracellular Source: MGI
  • neuromuscular junction Source: MGI
  • sarcolemma Source: UniProtKB
  • Z disc Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Intermediate filament, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi349R → P: Increases protein decay. forms subsarcolemmal aggregates. Changes the subcellular localization and turnover of its direct, extrasarcomeric binding partners. Knockin mice develop age-dependent desmin-positive protein aggregation pathology, skeletal muscle weakness, dilated cardiomyopathy, as well as cardiac arrhythmias and conduction defects. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000637731 – 469DesminAdd BLAST469

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12Phosphoserine; by AURKBBy similarity1
Modified residuei16Omega-N-methylarginineCombined sources1
Modified residuei17PhosphothreonineCombined sources1
Modified residuei25PhosphoserineCombined sources1
Modified residuei28PhosphoserineCombined sources1
Modified residuei31PhosphoserineCombined sources1
Modified residuei32PhosphoserineCombined sources1
Modified residuei37Asymmetric dimethylarginine; alternateCombined sources1
Modified residuei37Omega-N-methylarginine; alternateCombined sources1
Modified residuei45PhosphoserineBy similarity1
Modified residuei58ADP-ribosylarginineBy similarity1
Modified residuei60Phosphoserine; by AURKBBy similarity1
Modified residuei68PhosphoserineCombined sources1
Modified residuei70Omega-N-methylarginineCombined sources1
Modified residuei81PhosphoserineBy similarity1
Modified residuei289PhosphoserineBy similarity1
Modified residuei357PhosphoserineBy similarity1
Modified residuei423PhosphoserineCombined sources1

Post-translational modificationi

ADP-ribosylation prevents ability to form intermediate filaments.By similarity

Keywords - PTMi

ADP-ribosylation, Methylation, Phosphoprotein

Proteomic databases

EPDiP31001.
PaxDbiP31001.
PeptideAtlasiP31001.
PRIDEiP31001.

2D gel databases

SWISS-2DPAGEP31001.

PTM databases

iPTMnetiP31001.
PhosphoSitePlusiP31001.

Miscellaneous databases

PMAP-CutDBP31001.

Expressioni

Gene expression databases

BgeeiENSMUSG00000026208.
CleanExiMM_DES.
ExpressionAtlasiP31001. baseline and differential.
GenevisibleiP31001. MM.

Interactioni

Subunit structurei

Homopolymer. Interacts with MTM1 (By similarity). Interacts with DST (PubMed:10357897). Interacts with tubulin-alpha; specifically associates with detyrosinated tubulin-alpha (PubMed:27102488). Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (By similarity).By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DUX4Q9UBX22EBI-298565,EBI-11600078From a different organism.
MTM1Q134964EBI-298565,EBI-2864109From a different organism.
Mtm1Q9Z2C54EBI-298565,EBI-6861578

GO - Molecular functioni

Protein-protein interaction databases

BioGridi199210. 4 interactors.
DIPiDIP-256N.
IntActiP31001. 10 interactors.
MINTiMINT-220806.
STRINGi10090.ENSMUSP00000027409.

Structurei

3D structure databases

ProteinModelPortaliP31001.
SMRiP31001.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 108HeadAdd BLAST108
Regioni109 – 411RodAdd BLAST303
Regioni109 – 140Coil 1AAdd BLAST32
Regioni141 – 150Linker 110
Regioni151 – 251Coil 1BAdd BLAST101
Regioni252 – 267Linker 12Add BLAST16
Regioni268 – 286Coil 2AAdd BLAST19
Regioni287 – 294Linker 28
Regioni295 – 411Coil 2BAdd BLAST117
Regioni412 – 469TailAdd BLAST58

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi45 – 48Poly-Ser4

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFZ1. Eukaryota.
ENOG410XRBS. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230977.
HOVERGENiHBG013015.
InParanoidiP31001.
KOiK07610.
OMAiHIHTHAG.
OrthoDBiEOG091G12MK.
PhylomeDBiP31001.
TreeFamiTF330122.

Family and domain databases

InterProiIPR027698. DES.
IPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF28. PTHR23239:SF28. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P31001-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSQAYSSSQR VSSYRRTFGG APGFSLGSPL SSPVFPRAGF GTKGSSSSMT
60 70 80 90 100
SRVYQVSRTS GGAGGLGSLR SSRLGTTRAP SYGAGELLDF SLADAVNQEF
110 120 130 140 150
LATRTNEKVE LQELNDRFAN YIEKVRFLEQ QNAALAAEVN RLKGREPTRV
160 170 180 190 200
AELYEEEMRE LRRQVEVLTN QRARVDVERD NLIDDLQRLK AKLQEEIQLR
210 220 230 240 250
EEAENNLAAF RADVDAATLA RIDLERRIES LNEEIAFLKK VHEEEIRELQ
260 270 280 290 300
AQLQEQQVQV EMDMSKPDLT AALRDIRAQY ETIAAKNISE AEEWYKSKVS
310 320 330 340 350
DLTQAANKNN DALRQAKQEM MEYRHQIQSY TCEIDALKGT NDSLMRQMRE
360 370 380 390 400
LEDRFASEAN GYQDNIARLE EEIRHLKDEM ARHLREYQDL LNVKMALDVE
410 420 430 440 450
IATYRKLLEG EESRINLPIQ TFSALNFRET SPEQRGSEVH TKKTVMIKTI
460
ETRDGEVVSE ATQQQHEVL
Length:469
Mass (Da):53,498
Last modified:January 23, 2007 - v3
Checksum:i58A8A13C7CC11EEF
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L22550 mRNA. No translation available.
BC031760 mRNA. Translation: AAH31760.1.
Z18892 Genomic DNA. Translation: CAA79330.1.
CCDSiCCDS15071.1.
PIRiA54104.
RefSeqiNP_034173.1. NM_010043.2.
UniGeneiMm.6712.

Genome annotation databases

EnsembliENSMUST00000027409; ENSMUSP00000027409; ENSMUSG00000026208.
GeneIDi13346.
KEGGimmu:13346.
UCSCiuc007box.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L22550 mRNA. No translation available.
BC031760 mRNA. Translation: AAH31760.1.
Z18892 Genomic DNA. Translation: CAA79330.1.
CCDSiCCDS15071.1.
PIRiA54104.
RefSeqiNP_034173.1. NM_010043.2.
UniGeneiMm.6712.

3D structure databases

ProteinModelPortaliP31001.
SMRiP31001.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi199210. 4 interactors.
DIPiDIP-256N.
IntActiP31001. 10 interactors.
MINTiMINT-220806.
STRINGi10090.ENSMUSP00000027409.

PTM databases

iPTMnetiP31001.
PhosphoSitePlusiP31001.

2D gel databases

SWISS-2DPAGEP31001.

Proteomic databases

EPDiP31001.
PaxDbiP31001.
PeptideAtlasiP31001.
PRIDEiP31001.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000027409; ENSMUSP00000027409; ENSMUSG00000026208.
GeneIDi13346.
KEGGimmu:13346.
UCSCiuc007box.2. mouse.

Organism-specific databases

CTDi1674.
MGIiMGI:94885. Des.

Phylogenomic databases

eggNOGiENOG410IFZ1. Eukaryota.
ENOG410XRBS. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230977.
HOVERGENiHBG013015.
InParanoidiP31001.
KOiK07610.
OMAiHIHTHAG.
OrthoDBiEOG091G12MK.
PhylomeDBiP31001.
TreeFamiTF330122.

Enzyme and pathway databases

ReactomeiR-MMU-390522. Striated Muscle Contraction.

Miscellaneous databases

PMAP-CutDBP31001.
PROiP31001.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000026208.
CleanExiMM_DES.
ExpressionAtlasiP31001. baseline and differential.
GenevisibleiP31001. MM.

Family and domain databases

InterProiIPR027698. DES.
IPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PTHR23239:SF28. PTHR23239:SF28. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDESM_MOUSE
AccessioniPrimary (citable) accession number: P31001
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 153 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.