HUMAN:DMD

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	DMD
Protein Name(s)	Dystrophin
External Links
UniProt	P11532
EMBL	M18533 X14298 M92650 AL031542 AC004468 AC006061 AC078958 AC079143 AC079175 AC079177 AC079864 AC090632 AC093167 AC093193 AC096506 AL031643 AL096699 AL109609 AL139278 AL451144 AL031643 AC004468 AC006061 AC078958 AC079143 AC079175 AC079177 AC079864 AC090632 AC093167 AC093193 AC096506 AL031542 AL096699 AL109609 AL139278 AL451144 AL049643 AL050305 AL096699 AC004468 AC006061 AC078958 AC079143 AC079175 AC079177 AC079864 AC090632 AC093167 AC093193 AC096506 AL031542 AL031643 AL109609 AL139278 AL451144 AL109609 AC004468 AC006061 AC078958 AC079143 AC079175 AC079177 AC079864 AC090632 AC093167 AC093193 AC096506 AL031542 AL031643 AL096699 AL139278 AL451144 AL121880 AL139278 AC004468 AC006061 AC078958 AC079143 AC079175 AC079177 AC079864 AC090632 AC093167 AC093193 AC096506 AL031542 AL031643 AL096699 AL109609 AL451144 AL139401 AL451144 AC004468 AC006061 AC078958 AC079143 AC079175 AC079177 AC079864 AC090632 AC093167 AC093193 AC096506 AL031542 AL031643 AL096699 AL109609 AL139278 AL596023 CH471074 BC028720 BC070078 BC094758 U27203 U27203 X15148 X06178 X06179 X13045 X13046 X13047 X13048 X15495 X54820
CCDS	CCDS14231.1 CCDS14232.1 CCDS14233.1 CCDS14234.1
PIR	A45255
RefSeq	NP_000100.2 NP_003997.1 NP_004000.1 NP_004001.1 NP_004002.2 NP_004003.1 NP_004004.1 NP_004005.1 NP_004006.1 NP_004007.1 NP_004008.1 NP_004009.1 NP_004010.1 NP_004011.2 NP_004012.1 NP_004013.1 NP_004014.1
UniGene	Hs.495912
PDB	1DXX 1EG3 1EG4 3UUN
PDBsum	1DXX 1EG3 1EG4 3UUN
ProteinModelPortal	P11532
SMR	P11532
BioGrid	108096
IntAct	P11532
MINT	MINT-109755
STRING	9606.ENSP00000354923
PhosphoSite	P11532
DMDM	313104240
MaxQB	P11532
PaxDb	P11532
PRIDE	P11532
DNASU	1756
Ensembl	ENST00000361471 ENST00000378680 ENST00000378702 ENST00000378723
GeneID	1756
KEGG	hsa:1756
UCSC	uc004dcn.1 uc004dco.1 uc004dcw.2 uc004dcx.2 uc004dcy.1
CTD	1756
GeneCards	GC0XM031047
GeneReviews	DMD
HGNC	HGNC:2928
HPA	CAB000119 HPA002725 HPA023885
MIM	300376 300377 302045 310200
neXtProt	NX_P11532
Orphanet	98895 98896 154 206546 777
PharmGKB	PA27378
eggNOG	COG5069
GeneTree	ENSGT00760000119237
HOGENOM	HOG000231175
HOVERGEN	HBG005495
InParanoid	P11532
KO	K10366
OrthoDB	EOG7V765N
PhylomeDB	P11532
TreeFam	TF320178
Reactome	REACT_163874 REACT_16969
SignaLink	P11532
ChiTaRS	DMD
EvolutionaryTrace	P11532
GeneWiki	Dystrophin
GenomeRNAi	1756
NextBio	7115
PRO	PR:P11532
Proteomes	UP000005640
Bgee	P11532
CleanEx	HS_DMD
ExpressionAtlas	P11532
Genevestigator	P11532
GO	GO:0030054 GO:0009986 GO:0043034 GO:0005856 GO:0005829 GO:0016010 GO:0030175 GO:0031527 GO:0045121 GO:0005634 GO:0005886 GO:0045211 GO:0043234 GO:0042383 GO:0016013 GO:0003779 GO:0005509 GO:0002162 GO:0017022 GO:0050998 GO:0005200 GO:0008307 GO:0017166 GO:0008270 GO:0086001 GO:0060048 GO:0043623 GO:0034613 GO:0030198 GO:0044458 GO:0030049 GO:0007517 GO:1902083 GO:0033137 GO:0043043 GO:0045666 GO:0010976 GO:2000651 GO:0010881 GO:0090287 GO:0002027 GO:0010880 GO:0060314 GO:0014819 GO:0014809 GO:1901385
Gene3D	1.10.238.10 1.10.418.10
InterPro	IPR001589 IPR001715 IPR016344 IPR011992 IPR015153 IPR015154 IPR018159 IPR002017 IPR001202 IPR000433
Pfam	PF00307 PF09068 PF09069 PF00435 PF00397 PF00569
PIRSF	PIRSF002341
SMART	SM00033 SM00150 SM00456 SM00291
SUPFAM	SSF47576 SSF51045
PROSITE	PS00019 PS00020 PS50021 PS01159 PS50020 PS01357 PS50135

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
part_of	GO:0042383	sarcolemma	PMID:27225184^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0002129)	Seeded From UniProt	complete
part_of	GO:0045202	synapse	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	C		Seeded From UniProt	complete
part_of	GO:0044306	neuron projection terminus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	C		Seeded From UniProt	complete
involved_in	GO:0048747	muscle fiber development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P		Seeded From UniProt	complete
involved_in	GO:0035994	response to muscle stretch	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P		Seeded From UniProt	complete
part_of	GO:0045121	membrane raft	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	C		Seeded From UniProt	complete
part_of	GO:0030055	cell-substrate junction	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	C		Seeded From UniProt	complete
involved_in	GO:0046716	muscle cell cellular homeostasis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P		Seeded From UniProt	complete
involved_in	GO:0007517	muscle organ development	PMID:1824797^[2]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:2000651	positive regulation of sodium ion transmembrane transporter activity	PMID:21677768^[3]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P	occurs_in:(CL:0000746)	Seeded From UniProt	complete
involved_in	GO:1902083	negative regulation of peptidyl-cysteine S-nitrosylation	PMID:19198614^[4]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P	occurs_in:(UBERON:0001134) has_input:(UniProtKB:E9PZQ0)	Seeded From UniProt	complete
involved_in	GO:1902083	negative regulation of peptidyl-cysteine S-nitrosylation	PMID:20080623^[5]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P	occurs_in:(CL:0000746) has_input:(UniProtKB:E9Q401)	Seeded From UniProt	complete
involved_in	GO:1901385	regulation of voltage-gated calcium channel activity	PMID:21677768^[3]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P	occurs_in:(CL:0000746)	Seeded From UniProt	complete
involved_in	GO:0086001	cardiac muscle cell action potential	PMID:21677768^[3]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P		Seeded From UniProt	complete
involved_in	GO:0086001	cardiac muscle cell action potential	PMID:20080623^[5]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P		Seeded From UniProt	complete
involved_in	GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	PMID:20080623^[5]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P	occurs_in:(CL:0000746)	Seeded From UniProt	complete
involved_in	GO:0060048	cardiac muscle contraction	PMID:19027585^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0050998	nitric-oxide synthase binding	PMID:7545544^[7]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	F		Seeded From UniProt	complete
involved_in	GO:0034622	cellular protein-containing complex assembly	PMID:19198614^[4]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P	occurs_in:(UBERON:0001134)	Seeded From UniProt	complete
involved_in	GO:0034622	cellular protein-containing complex assembly	PMID:20080623^[5]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P	occurs_in:(CL:0000746)	Seeded From UniProt	complete
part_of	GO:0042383	sarcolemma	PMID:7545544^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0034613	cellular protein localization	PMID:7545544^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_at:(GO:0042383) occurs_in:(UBERON:0001134) has_input:(UniProtKB:P29475)	Seeded From UniProt	complete
involved_in	GO:0033137	negative regulation of peptidyl-serine phosphorylation	PMID:23263329^[8]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P	has_input:(UniProtKB:E9Q401) occurs_in:(CL:0000746)	Seeded From UniProt	complete
part_of	GO:0031527	filopodium membrane	PMID:16803572^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000233)	Seeded From UniProt	complete
part_of	GO:0030175	filopodium	PMID:16803572^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000233)	Seeded From UniProt	complete
enables	GO:0017166	vinculin binding	PMID:16803572^[9]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P18206	F	occurs_in:(CL:0000233)	Seeded From UniProt	complete
enables	GO:0017022	myosin binding	PMID:16803572^[9]	ECO:0000314	direct assay evidence used in manual assertion		F	occurs_in:(CL:0000233)	Seeded From UniProt	complete
involved_in	GO:0014819	regulation of skeletal muscle contraction	PMID:19198614^[4]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P		Seeded From UniProt	complete
involved_in	GO:0014809	regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion	PMID:19198614^[4]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P		Seeded From UniProt	complete
involved_in	GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	PMID:20080623^[5]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P		Seeded From UniProt	complete
involved_in	GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	PMID:20080623^[5]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P11531	P	occurs_in:(CL:0000746)	Seeded From UniProt	complete
enables	GO:0003779	actin binding	PMID:16803572^[9]	ECO:0000314	direct assay evidence used in manual assertion		F	occurs_in:(CL:0000233)	Seeded From UniProt	complete
involved_in	GO:0002027	regulation of heart rate	PMID:19027585^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043043	peptide biosynthetic process	PMID:16000376^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0043034	costamere	PMID:16000376^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016010	dystrophin-associated glycoprotein complex	PMID:17993586^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016010	dystrophin-associated glycoprotein complex	PMID:7592992^[12]	ECO:0000303	author statement without traceable support used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0009986	cell surface	PMID:10867799^[13]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0008307	structural constituent of muscle	PMID:16000376^[10]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0002162	dystroglycan binding	PMID:7592992^[12]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q14118	F		Seeded From UniProt	complete
enables	GO:0002162	dystroglycan binding	PMID:7592992^[12]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q28685	F		Seeded From UniProt	complete
part_of	GO:0032991	protein-containing complex	PMID:18468998^[14]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0007010	cytoskeleton organization	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0005200	P		Seeded From UniProt	complete
enables	GO:0002162	dystroglycan binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR016344	F		Seeded From UniProt	complete
enables	GO:0003779	actin binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR016344	F		Seeded From UniProt	complete
enables	GO:0008270	zinc ion binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000433	F		Seeded From UniProt	complete
involved_in	GO:0090287	regulation of cellular response to growth factor stimulus	PMID:15149856^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045666	positive regulation of neuron differentiation	PMID:15149856^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0010976	positive regulation of neuron projection development	PMID:15149856^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:15149856^[15]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	PMID:3282674^[16]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005200	structural constituent of cytoskeleton	PMID:3282674^[16]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
colocalizes_with	GO:0016328	lateral plasma membrane	PMID:21164104^[17]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016013	syntrophin complex	PMID:21164104^[17]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016010	dystrophin-associated glycoprotein complex	PMID:8282811^[18] PMID:22105192^[19]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0008307	structural constituent of muscle	PMID:3287171^[20]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0003779	actin binding	PMID:12376554^[21]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0030049	muscle filament sliding	Reactome:R-HSA-390522	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-390598 Reactome:R-HSA-390597 Reactome:R-HSA-390595 Reactome:R-HSA-390593	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0045202	synapse	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0770	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0030054	cell junction	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0965	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003	C		Seeded From UniProt	complete
enables	GO:0003779	actin binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0009	F		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206 UniProtKB-SubCell:SL-0090	C		Seeded From UniProt	complete
part_of	GO:0045211	postsynaptic membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0628 UniProtKB-SubCell:SL-0219	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F		Seeded From UniProt	complete
part_of	GO:0042383	sarcolemma	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0238	C		Seeded From UniProt	complete
part_of	GO:0045121	membrane raft	PMID:22105192^[19]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0044458	motile cilium assembly	PMID:22105192^[19]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
colocalizes_with	GO:0015629	actin cytoskeleton	PMID:22105192^[19]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:22105192^[19]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:22105192^[19]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
	GO:0007010	cytoskeleton organization	PMID:28045018^[22]	ECO:0000314			P		Provides stabilization in sarcolemma formation, mRNA splicing dysfunction creates muscular dystophy.	complete CACAO 12840
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Reilly, SN et al. (2016) Up-regulation of miR-31 in human atrial fibrillation begets the arrhythmia by depleting dystrophin and neuronal nitric oxide synthase. Sci Transl Med 8 340ra74 PubMed GONUTS page
↑ Lee, CC et al. (1991) Expression of recombinant dystrophin and its localization to the cell membrane. Nature 349 334-6 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Koenig, X et al. (2011) Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart. PLoS ONE 6 e20300 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 Bellinger, AM et al. (2009) Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. Nat. Med. 15 325-30 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 Fauconnier, J et al. (2010) Leaky RyR2 trigger ventricular arrhythmias in Duchenne muscular dystrophy. Proc. Natl. Acad. Sci. U.S.A. 107 1559-64 PubMed GONUTS page
↑ ^6.0 ^6.1 Takami, Y et al. (2008) High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy. Pediatr. Neurol. 39 399-403 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 Brenman, JE et al. (1995) Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 82 743-52 PubMed GONUTS page
↑ Kyrychenko, S et al. (2013) Hierarchical accumulation of RyR post-translational modifications drives disease progression in dystrophic cardiomyopathy. Cardiovasc. Res. 97 666-75 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 ^9.4 Cerecedo, D et al. (2006) Role of dystrophins and utrophins in platelet adhesion process. Br. J. Haematol. 134 83-91 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 Stone, MR et al. (2005) Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19. Mol. Biol. Cell 16 4280-93 PubMed GONUTS page
↑ Sharma, P et al. (2008) Expression of the dystrophin-glycoprotein complex is a marker for human airway smooth muscle phenotype maturation. Am. J. Physiol. Lung Cell Mol. Physiol. 294 L57-68 PubMed GONUTS page
↑ ^12.0 ^12.1 ^12.2 Jung, D et al. (1995) Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. J. Biol. Chem. 270 27305-10 PubMed GONUTS page
↑ Wakayama, Y et al. (2000) Aciculin and its relation to dystrophin: immunocytochemical studies in human normal and Duchenne dystrophy quadriceps muscles. Acta Neuropathol. 99 654-62 PubMed GONUTS page
↑ Lyssand, JS et al. (2008) Blood pressure is regulated by an alpha1D-adrenergic receptor/dystrophin signalosome. J. Biol. Chem. 283 18792-800 PubMed GONUTS page
↑ ^15.0 ^15.1 ^15.2 ^15.3 Acosta, R et al. (2004) Dystrophin Dp71 is required for neurite outgrowth in PC12 cells. Exp. Cell Res. 296 265-75 PubMed GONUTS page
↑ ^16.0 ^16.1 Koenig, M et al. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53 219-28 PubMed GONUTS page
↑ ^17.0 ^17.1 Petitprez, S et al. (2011) SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes. Circ. Res. 108 294-304 PubMed GONUTS page
↑ Worton, RG (1994) Dystrophin: the long and short of it. J. Clin. Invest. 93 4 PubMed GONUTS page
↑ ^19.0 ^19.1 ^19.2 ^19.3 ^19.4 ^19.5 Tadayoni, R et al. (2012) Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene. Mol. Neurobiol. 45 43-60 PubMed GONUTS page
↑ Zubrzycka-Gaarn, EE et al. (1988) The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333 466-9 PubMed GONUTS page
↑ Röper, K et al. (2002) The 'spectraplakins': cytoskeletal giants with characteristics of both spectrin and plakin families. J. Cell. Sci. 115 4215-25 PubMed GONUTS page
↑ Bougé, AL et al. (2017) Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle. Sci Rep 7 39094 PubMed GONUTS page

[PMID:27225184-1] Reilly, SN et al. (2016) Up-regulation of miR-31 in human atrial fibrillation begets the arrhythmia by depleting dystrophin and neuronal nitric oxide synthase. Sci Transl Med 8 340ra74 PubMed GONUTS page

[PMID:1824797-2] Lee, CC et al. (1991) Expression of recombinant dystrophin and its localization to the cell membrane. Nature 349 334-6 PubMed GONUTS page

[PMID:21677768-3] 3.0 ^3.1 ^3.2 Koenig, X et al. (2011) Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart. PLoS ONE 6 e20300 PubMed GONUTS page

[PMID:19198614-4] 4.0 ^4.1 ^4.2 ^4.3 Bellinger, AM et al. (2009) Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. Nat. Med. 15 325-30 PubMed GONUTS page

[PMID:20080623-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 Fauconnier, J et al. (2010) Leaky RyR2 trigger ventricular arrhythmias in Duchenne muscular dystrophy. Proc. Natl. Acad. Sci. U.S.A. 107 1559-64 PubMed GONUTS page

[PMID:19027585-6] 6.0 ^6.1 Takami, Y et al. (2008) High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy. Pediatr. Neurol. 39 399-403 PubMed GONUTS page

[PMID:7545544-7] 7.0 ^7.1 ^7.2 Brenman, JE et al. (1995) Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 82 743-52 PubMed GONUTS page

[PMID:23263329-8] Kyrychenko, S et al. (2013) Hierarchical accumulation of RyR post-translational modifications drives disease progression in dystrophic cardiomyopathy. Cardiovasc. Res. 97 666-75 PubMed GONUTS page

[PMID:16803572-9] 9.0 ^9.1 ^9.2 ^9.3 ^9.4 Cerecedo, D et al. (2006) Role of dystrophins and utrophins in platelet adhesion process. Br. J. Haematol. 134 83-91 PubMed GONUTS page

[PMID:16000376-10] 10.0 ^10.1 ^10.2 Stone, MR et al. (2005) Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19. Mol. Biol. Cell 16 4280-93 PubMed GONUTS page

[PMID:17993586-11] Sharma, P et al. (2008) Expression of the dystrophin-glycoprotein complex is a marker for human airway smooth muscle phenotype maturation. Am. J. Physiol. Lung Cell Mol. Physiol. 294 L57-68 PubMed GONUTS page

[PMID:7592992-12] 12.0 ^12.1 ^12.2 Jung, D et al. (1995) Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. J. Biol. Chem. 270 27305-10 PubMed GONUTS page

[PMID:10867799-13] Wakayama, Y et al. (2000) Aciculin and its relation to dystrophin: immunocytochemical studies in human normal and Duchenne dystrophy quadriceps muscles. Acta Neuropathol. 99 654-62 PubMed GONUTS page

[PMID:18468998-14] Lyssand, JS et al. (2008) Blood pressure is regulated by an alpha1D-adrenergic receptor/dystrophin signalosome. J. Biol. Chem. 283 18792-800 PubMed GONUTS page

[PMID:15149856-15] 15.0 ^15.1 ^15.2 ^15.3 Acosta, R et al. (2004) Dystrophin Dp71 is required for neurite outgrowth in PC12 cells. Exp. Cell Res. 296 265-75 PubMed GONUTS page

[PMID:3282674-16] 16.0 ^16.1 Koenig, M et al. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53 219-28 PubMed GONUTS page

[PMID:21164104-17] 17.0 ^17.1 Petitprez, S et al. (2011) SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes. Circ. Res. 108 294-304 PubMed GONUTS page

[PMID:8282811-18] Worton, RG (1994) Dystrophin: the long and short of it. J. Clin. Invest. 93 4 PubMed GONUTS page

[PMID:22105192-19] 19.0 ^19.1 ^19.2 ^19.3 ^19.4 ^19.5 Tadayoni, R et al. (2012) Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene. Mol. Neurobiol. 45 43-60 PubMed GONUTS page

[PMID:3287171-20] Zubrzycka-Gaarn, EE et al. (1988) The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333 466-9 PubMed GONUTS page

[PMID:12376554-21] Röper, K et al. (2002) The 'spectraplakins': cytoskeletal giants with characteristics of both spectrin and plakin families. J. Cell. Sci. 115 4215-25 PubMed GONUTS page

[PMID:28045018-22] Bougé, AL et al. (2017) Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle. Sci Rep 7 39094 PubMed GONUTS page

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HUMAN:DMD

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