Protein name:
Desmin ;
Alternative:
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Homopolymer. Interacts with DST (By similarity). Interacts with MTM1.
Function:
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.
Subcellular Location:
Cytoplasm
Protein Attributes:
50:
MSQAYSSSQR | VSSYRRTFGG | APGFPLGSPL | SSPVFPRAGF | GSKGSSSSVT |
100:
SRVYQVSRTS | GGAGGLGSLR | ASRLGTTRTP | SSYGAGELLD | FSLADAVNQE |
150:
FLTTRTNEKV | ELQELNDRFA | NYIEKVRFLE | QQNAALAAEV | NRLKGREPTR |
200:
VAELYEEELR | ELRRQVEVLT | NQRARVDVER | DNLLDDLQRL | KAKLQEEIQL |
250:
KEEAENNLAA | FRADVDAATL | ARIDLERRIE | SLNEEIAFLK | KVHEEEIREL |
300:
QAQLQEQQVQ | VEMDMSKPDL | TAALRDIRAQ | YETIAAKNIS | EAEEWYKSKV |
350:
SDLTQAANKN | NDALRQAKQE | MMEYRHQIQS | YTCEIDALKG | TNDSLMRQMR |
400:
ELEDRFASEA | SGYQDNIARL | EEEIRHLKDE | MARHLREYQD | LLNVKMALDV |
450:
EIATYRKLLE | GEESRINLPI | QTYSALNFRE | TSPEQRGSEV | HTKKTVMIKT |
470:
IETRDGEVVS | EATQQQHEVL |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Bovine
Mouse
Pig
Rat
Dog
Chicken
ELISA Kit for Human Desmin
ELISA Kit for Human Desmin
ELISA Kit for Human Desmin
ELISA Kit for Human Desmin
ELISA Kit for Human Desmin
ELISA Kit for Human Desmin
ELISA Kit for Human Desmin
CLIA Kit for Human Desmin
CLIA Kit for Human Desmin
CLIA Kit for Human Desmin
CLIA Kit for Human Desmin
CLIA Kit for Human Desmin
CLIA Kit for Human Desmin
CLIA Kit for Human Desmin
Polyclonal Antibody for Human Desmin
Polyclonal Antibody for Human Desmin
Polyclonal Antibody for Human Desmin
Polyclonal Antibody for Human Desmin
Polyclonal Antibody for Human Desmin
Polyclonal Antibody for Human Desmin
Polyclonal Antibody for Human Desmin
Monoclonal Antibody for Human Desmin
Monoclonal Antibody for Human Desmin
Monoclonal Antibody for Human Desmin
Monoclonal Antibody for Human Desmin
Monoclonal Antibody for Human Desmin
Monoclonal Antibody for Human Desmin
Monoclonal Antibody for Human Desmin
R&D Technical Data
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Precision
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Recovery
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Linearity
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References
1.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA]
2.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA]
3.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA]
tissue :
Muscle .
4.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA];VARIANTS MFM1 PRO-337; PRO-360 AND ILE-393
5.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA];VARIANT CMD1I MET-451
6.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA];VARIANT MFM1 PRO-389
7.
"Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy."
Kaminska A.
,
Strelkov S.V.
,
Goudeau B.
,
Olive M.
,
Dagvadorj A.
,
Fidzianska A.
,
Simon-Casteras M.
,
Shatunov A.
,
Dalakas M.C.
,
Ferrer I.
,
Kwiecinski H.
,
Vicart P.
,
Goldfarb L.G.
Hum. Genet.114:306-313(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS MFM1 ASP-342; PRO-357; 359-GLU--SER-361 DEL; ASN-366 DEL AND PRO-370;VARIANT VAL-213
8.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue :
Muscle .
9.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 337-353;VARIANT MFM1 PRO-345;CHARACTERIZATION OF VARIANT MFM1 PRO-345
tissue :
Skeletal muscle .
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION AT SER-12; THR-17 AND SER-60
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
12.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH MTM1;CHARACTERIZATION OF VARIANTS ASP-342; PRO-357; PRO-360 AND PRO-370
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : REVIEW ON VARIANTS MFM1
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : REVIEW ON VARIANTS MFM1
15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INVOLVEMENT IN LGMD2R
16.
"A dysfunctional desmin mutation in a patient with severe generalized myopathy."
Munoz-Marmol A.M.
,
Strasser G.
,
Isamat M.
,
Coulombe P.A.
,
Yang Y.
,
Roca X.
,
Vela E.
,
Mate J.L.
,
Coll J.
,
Fernandez-Figueras M.T.
,
Navas-Palacios J.J.
,
Ariza A.
,
Fuchs E.
Proc. Natl. Acad. Sci. U.S.A.95:11312-11317(1998)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 173-ARG--GLU-179 DEL
17.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 TRP-406
18.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 PRO-385
19.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451;CHARACTERIZATION OF VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451
20.
"On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria."
Schroeder R.
,
Goudeau B.
,
Simon M.C.
,
Fischer D.
,
Eggermann T.
,
Clemen C.S.
,
Li Z.
,
Reimann J.
,
Xue Z.
,
Rudnik-Schoeneborn S.
,
Zerres K.
,
van der Ven P.F.
,
Fuerst D.O.
,
Kunz W.S.
,
Vicart P.
Hum. Mol. Genet.12:657-669(2003)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 LYS-240 DEL;CHARACTERIZATION OF VARIANT MFM1 LYS-240 DEL
21.
Schroeder R.
,
Goudeau B.
,
Simon M.C.
,
Fischer D.
,
Eggermann T.
,
Clemen C.S.
,
Li Z.
,
Reimann J.
,
Xue Z.
,
Rudnik-Schoeneborn S.
,
Zerres K.
,
van der Ven P.F.
,
Fuerst D.O.
,
Kunz W.S.
,
Vicart P.
Hum. Mol. Genet.16:2989-2990(2003)
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ERRATUM
22.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MFM1 PRO-357 AND PRO-370;CHARACTERIZATION OF VARIANTS MFM1 PRO-357 AND PRO-370
23.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MFM1 ILE-2; TYR-46; PHE-46 AND THR-449;CHARACTERIZATION OF VARIANTS MFM1 ILE-2; TYR-46; PHE-46 AND THR-449
24.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 PRO-350;CHARACTERIZATION OF VARIANT MFM1 PRO-350
25.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 PRO-355
26.
"Variable pathogenic potentials of mutations located in the desmin alpha-helical domain."
Goudeau B.
,
Rodrigues-Lima F.
,
Fischer D.
,
Casteras-Simon M.
,
Sambuughin N.
,
de Visser M.
,
Laforet P.
,
Ferrer X.
,
Chapon F.
,
Sjoberg G.
,
Kostareva A.
,
Sejersen T.
,
Dalakas M.C.
,
Goldfarb L.G.
,
Vicart P.
Hum. Mutat.27:906-913(2006)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MFM1 ARG-338; TYR-399 AND LYS-401;VARIANT VAL-213;CHARACTERIZATION OF VARIANTS MFM1 ARG-338; PRO-360; ILE-393; TYR-399 AND LYS-401;CHARACTERIZATION OF VARIANT VAL-213
27.
"Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P."
Walter M.C.
,
Reilich P.
,
Huebner A.
,
Fischer D.
,
Schroeder R.
,
Vorgerd M.
,
Kress W.
,
Born C.
,
Schoser B.G.
,
Krause K.H.
,
Klutzny U.
,
Bulst S.
,
Frey J.R.
,
Lochmueller H.
Brain130:1485-1496(2007)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT KAESER SYNDROME PRO-350
28.
"Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies."
Baer H.
,
Goudeau B.
,
Waelde S.
,
Casteras-Simon M.
,
Muecke N.
,
Shatunov A.
,
Goldberg Y.P.
,
Clarke C.
,
Holton J.L.
,
Eymard B.
,
Katus H.A.
,
Fardeau M.
,
Goldfarb L.
,
Vicart P.
,
Herrmann H.
Hum. Mutat.28:374-386(2007)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MFM1 ILE-442; TRP-454 AND ILE-460;CHARACTERIZATION OF VARIANTS MFM1 ILE-442; MET-451; TRP-454 AND ILE-460
29.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 PHE-13
30.
"Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene."
van Tintelen J.P.
,
Van Gelder I.C.
,
Asimaki A.
,
Suurmeijer A.J.
,
Wiesfeld A.C.
,
Jongbloed J.D.
,
van den Wijngaard A.
,
Kuks J.B.
,
van Spaendonck-Zwarts K.Y.
,
Notermans N.
,
Boven L.
,
van den Heuvel F.
,
Veenstra-Knol H.E.
,
Saffitz J.E.
,
Hofstra R.M.
,
van den Berg M.P.
Heart Rhythm6:1574-1583(2009)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 PHE-13;PHENOTYPIC VARIABILITY IN MFM1 PATIENTS
31.
"De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy."
Klauke B.
,
Kossmann S.
,
Gaertner A.
,
Brand K.
,
Stork I.
,
Brodehl A.
,
Dieding M.
,
Walhorn V.
,
Anselmetti D.
,
Gerdes D.
,
Bohms B.
,
Schulz U.
,
Zu Knyphausen E.
,
Vorgerd M.
,
Gummert J.
,
Milting H.
Hum. Mol. Genet.19:4595-4607(2010)
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PubMed ]
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 SER-116;CHARACTERIZATION OF VARIANT MFM1 SER-116
32.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT VAL-213
33.
"Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy."
Vattemi G.
,
Neri M.
,
Piffer S.
,
Vicart P.
,
Gualandi F.
,
Marini M.
,
Guglielmi V.
,
Filosto M.
,
Tonin P.
,
Ferlini A.
,
Tomelleri G.
Acta Myol.30:121-126(2011)
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PubMed ]
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS MFM1 PHE-7 AND TRP-454
34.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT MFM1 SER-419
35.
"Desmin mutations and arrhythmogenic right ventricular cardiomyopathy."
Lorenzon A.
,
Beffagna G.
,
Bauce B.
,
De Bortoli M.
,
Li Mura I.E.
,
Calore M.
,
Dazzo E.
,
Basso C.
,
Nava A.
,
Thiene G.
,
Rampazzo A.
Am. J. Cardiol.111:400-405(2013)
[
PubMed ]
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS VAL-213 AND GLU-241