Desmin

DES
Pengidentifikasi
Alias	DES, CSM1, CSM2, LGMD2R, desmin, LGMD1D, CMD1F, CDCD3, LGMD1E
ID eksternal	OMIM: 125660 MGI: 94885 HomoloGene: 56469 GeneCards: DES
Lokasi gen (Tikus) Kr. Kromosom 1 (tikus)[1] Pita 1 C4|1 38.85 cM Awal 75,336,973 bp[1] Akhir 75,345,223 bp[1]
Pola ekspresi RNA Referensi data ekspresi selengkapnya
Ontologi gen Fungsi molekuler • GO:0001948, GO:0016582 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
Ortolog
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
Lokasi (UCSC)	n/a	Chr 1: 75.34 – 75.35 Mb
Pencarian PubMed	[2]	[3]
Wikidata
Lihat/Sunting Manusia Lihat/Sunting Tikus

Desmin adalah protein yang pada manusia dikodekan oleh gen DES.[4][5] Desmin adalah filamen intermediat tipe III otot[6] yang terintegrasi di sarkolema, cakram Z dan selubung nukleus pada sarkomer, serta meregulasi arsitektur sarkomer.[7][8]

Referensi

1. GRCm38: Ensembl release 89: ENSMUSG00000026208 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. 
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. 
4. 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. 
5. 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. 
6. "Desmin", The Human Protein Atlas. Proteinatlas.org. Retrieved on 2013-07-29.
7. 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. 
8. 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.