Desmin

DES

Pengidentifikasi

Alias

DES, CSM1, CSM2, LGMD2R, desmin, LGMD1D, CMD1F, CDCD3, LGMD1E

ID Eksternal

OMIM: 125660; MGI: 94885; HomoloGene: 56469; GeneCards: DES; OMA:DES - orthologs

Pola ekspresi RNA

Bgee

Manusia

Tikus (ortologi)

Ekspresi tertinggi di

saphenous vein

apex of heart

Otot gastrocnemius

muscle of thigh

gastric mucosa

right auricle of heart

left ventricle

myocardium of left ventricle

Diafragma

muscle layer of sigmoid colon

Ekspresi tertinggi di

muscle of thigh

gastrula

Pergelangan kaki

Otot triceps brachii

temporal muscle

Kerongkongan

medial head of gastrocnemius muscle

digastric muscle

Otot sternokleidomastoid

Desidua

Referensi data ekspresi selengkapnya

BioGPS


Data ekspresi referensi lebih lanjut

Ontologi gen
Fungsi molekuler	Ikatan protein plasma structural constituent of cytoskeleton pengikatan protein identik structural molecule activity cytoskeletal protein binding
Komponen seluler	intercalated disc Sarkolema intermediate filament cytoskeleton sitoplasma contractile fiber sitosol Sambungan neuromuskular membran Z discdkac membran sel fascia adherens Sitoskeleton extracellular exosome Filamen intermediat cell-cell junction cardiac myofibril Inti sel
Proses biologis	Kontraksi otot intermediate filament organization cytoskeleton organization muscle filament sliding regulation of heart contraction
Sumber:Amigo / QuickGO

Ortologi

Spesies

Manusia

Tikus

Entrez


1674


13346

Ensembl


ENSG00000175084


ENSMUSG00000026208

UniProt


P17661


P31001

RefSeq (mRNA)


NM_001927


NM_010043

RefSeq (protein)

NP_001918 NP_001369637 NP_001369638 NP_001369639 NP_001369640
NP_001369641 NP_001369642


NP_034173

Location (UCSC)

n/a

PubMed search

^[1]

^[2]

Wikidata

Lihat/Sunting Manusia

Lihat/Sunting Tikus

Desmin adalah protein yang pada manusia dikodekan oleh gen DES.^[3]^[4] Desmin adalah filamen intermediat tipe III otot^[5] yang terintegrasi di sarkolema, cakram Z dan selubung nukleus pada sarkomer, serta meregulasi arsitektur sarkomer.^[6]^[7]

Referensi

↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, et al. (September 1998). "A dysfunctional desmin mutation in a patient with severe generalized myopathy". Proceedings of the National Academy of Sciences of the United States of America. 95 (19): 11312–11317. Bibcode:1998PNAS...9511312M. doi:10.1073/pnas.95.19.11312. PMC 21639. PMID 9736733.
↑ Li ZL, Lilienbaum A, Butler-Browne G, Paulin D (May 1989). "Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development". Gene. 78 (2): 243–254. doi:10.1016/0378-1119(89)90227-8. PMID 2673923.
↑ "Desmin", The Human Protein Atlas. Proteinatlas.org. Retrieved on 2013-07-29.
↑ Brodehl A, Gaertner-Rommel A, Milting H (August 2018). "Molecular insights into cardiomyopathies associated with desmin (DES) mutations". Biophysical Reviews. 10 (4): 983–1006. doi:10.1007/s12551-018-0429-0. PMC 6082305. PMID 29926427.
↑ Sequeira V, Nijenkamp LL, Regan JA, van der Velden J (February 2014). "The physiological role of cardiac cytoskeleton and its alterations in heart failure". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1838 (2): 700–722. doi:10.1016/j.bbamem.2013.07.011. PMID 23860255.

[1] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[2] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9736733-3] Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, et al. (September 1998). "A dysfunctional desmin mutation in a patient with severe generalized myopathy". Proceedings of the National Academy of Sciences of the United States of America. 95 (19): 11312–11317. Bibcode:1998PNAS...9511312M. doi:10.1073/pnas.95.19.11312. PMC 21639. PMID 9736733.

[pmid2673923-4] Li ZL, Lilienbaum A, Butler-Browne G, Paulin D (May 1989). "Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development". Gene. 78 (2): 243–254. doi:10.1016/0378-1119(89)90227-8. PMID 2673923.

[5] "Desmin", The Human Protein Atlas. Proteinatlas.org. Retrieved on 2013-07-29.

[Brodehl_2018-6] Brodehl A, Gaertner-Rommel A, Milting H (August 2018). "Molecular insights into cardiomyopathies associated with desmin (DES) mutations". Biophysical Reviews. 10 (4): 983–1006. doi:10.1007/s12551-018-0429-0. PMC 6082305. PMID 29926427.

[7] Sequeira V, Nijenkamp LL, Regan JA, van der Velden J (February 2014). "The physiological role of cardiac cytoskeleton and its alterations in heart failure". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1838 (2): 700–722. doi:10.1016/j.bbamem.2013.07.011. PMID 23860255.

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Desmin

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