Distrofin

DMD
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 1DXX, 1EG3, 1EG4, 3UUN
Identifikatori
Aliasi	DMD
Vanjski ID-jevi	OMIM: 300377 MGI: 94909 HomoloGene: 20856 GeneCards: DMD
Lokacija gena (čovjek) Hrom. Hromosom X[1] Bend Xp21.2-p21.1 Početak 31,097,677 bp[1] Kraj 33,339,609 bp[1]
Lokacija gena (miš) Hrom. Hromosom X (miš)[2] Bend X C1|X 38.38 cM Početak 81,992,476 bp[2] Kraj 84,249,747 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • nitric-oxide synthase binding • dystroglycan binding • vinculin binding • myosin binding • vezivanje iona cinka • vezivanje iona metala • GO:0001948, GO:0016582 vezivanje za proteine • actin binding • structural constituent of muscle • structural constituent of cytoskeleton Ćelijska komponenta • citoplazma • citosol • postsynaptic membrane • lateral plasma membrane • membrana • Filopodija • cell-substrate junction • ćelijska membrana • sinapsa • dystrophin-associated glycoprotein complex • cell surface • međućelijske veze • Z discdkac • actin cytoskeleton • Lipidni splav • Sarkolema • Kostamera • syntrophin complex • neuron projection terminus • citoskelet • jedro • filopodium membrane • GO:0009327 makromolekulani kompleks Biološki proces • response to muscle stretch • regulation of ryanodine-sensitive calcium-release channel activity • cardiac muscle cell action potential • regulation of voltage-gated calcium channel activity • cardiac muscle contraction • muscle cell cellular homeostasis • negative regulation of peptidyl-cysteine S-nitrosylation • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion • peptide biosynthetic process • muscle organ development • regulation of heart rate • positive regulation of neuron differentiation • negative regulation of peptidyl-serine phosphorylation • positive regulation of neuron projection development • muscle filament sliding • positive regulation of sodium ion transmembrane transporter activity • regulation of cellular response to growth factor stimulus • regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum • motile cilium assembly • regulation of skeletal muscle contraction • regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion • cytoskeleton organization Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	1756	13405
Ensembl	ENSG00000198947	ENSMUSG00000045103
UniProt	P11532	P11531
RefSeq (mRNK)	NM_000109 NM_004006 NM_004007 NM_004009 NM_004010 NM_004011 NM_004012 NM_004013 NM_004014 NM_004015 NM_004016 NM_004017 NM_004018 NM_004019 NM_004020 NM_004021 NM_004022 NM_004023	NM_007868 NM_001314034 NM_001314035 NM_001314036 NM_001314037 NM_001314038
RefSeq (bjelančevina)	NP_000100 NP_003997 NP_004000 NP_004001 NP_004002 NP_004003 NP_004004 NP_004005 NP_004006 NP_004007 NP_004008 NP_004009 NP_004010 NP_004011 NP_004012 NP_004013 NP_004014	NP_001300963 NP_001300964 NP_001300965 NP_001300966 NP_001300967 NP_031894
Lokacija (UCSC)	Chr X: 31.1 – 33.34 Mb	Chr X: 81.99 – 84.25 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Distrofin je štapičasti citoplazmatski protein i vitalni dio proteinskog kompleksa koji povezuje citoskelet mišićnih vlakana do okolnog vanćelijskog matriksa kroz ćelijsku membranu. Ovaj kompleks je poznat pod različitim nazivima, kao kostamera ili distrofin-vezani proteinski kompleks (DAPC). Na kostameri sa distrofinom kolokalizuju se mnogi mišićni proteini, kao što su α-distrobrevin, sinkoilin, sinemin, sarkoglikan, distroglikan i sarkospan.

Gen DMD, koji kodira protein distrofin, jedan je od najdužih poznatih ljudskih gena, pokrivajući 2,3 megabaza (0,08% ljudskog genoma) na lokusu Xp21. Primarni transkript u mišiću iznosi oko 2100 kilobaza i treba mu 16 sati da se transkribira;^[5] zrela iRNK ima 14,0 kilobaza.^[6] Transkript od 79 mišićnih egzona^[7] kodira protein od 3.685 aminokiselinskih ostataka.^[8]

1. ^ ^{a b c} GRCh38: Ensembl release 89: ENSG00000198947 - Ensembl, maj 2017
2. ^ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000045103 - Ensembl, maj 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Tennyson CN, Klamut HJ, Worton RG (februar 1995). "The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced". Nature Genetics. 9 (2): 184–90. doi:10.1038/ng0295-184. PMID 7719347.
6. ^ NCBI Sequence Viewer v2.0
7. ^ Strachan T and Read AP, 1999. Human molecular genetics, BIOS Scientific, New York, USA
8. ^ NCBI Sequence Viewer v2.0