Entity Details

Primary name DMD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP11532
EntryNameDMD_HUMAN
FullNameDystrophin
TaxID9606
Evidenceevidence at protein level
Length3685
SequenceStatuscomplete
DateCreated1989-10-01
DateModified2021-06-02

Ontological Relatives

GenesDMD

GO terms

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GOName
GO:0002027 regulation of heart rate
GO:0002162 dystroglycan binding
GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0007517 muscle organ development
GO:0008270 zinc ion binding
GO:0008307 structural constituent of muscle
GO:0009986 cell surface
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0010976 positive regulation of neuron projection development
GO:0014809 regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
GO:0014819 regulation of skeletal muscle contraction
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016013 syntrophin complex
GO:0017022 myosin binding
GO:0017166 vinculin binding
GO:0030018 Z disc
GO:0030049 muscle filament sliding
GO:0030055 cell-substrate junction
GO:0030175 filopodium
GO:0031527 filopodium membrane
GO:0032991 protein-containing complex
GO:0033137 negative regulation of peptidyl-serine phosphorylation
GO:0034613 cellular protein localization
GO:0034622 cellular protein-containing complex assembly
GO:0035633 maintenance of blood-brain barrier
GO:0035994 response to muscle stretch
GO:0042383 sarcolemma
GO:0043034 costamere
GO:0043043 peptide biosynthetic process
GO:0044306 neuron projection terminus
GO:0044458 motile cilium assembly
GO:0045121 membrane raft
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0045666 positive regulation of neuron differentiation
GO:0046716 muscle cell cellular homeostasis
GO:0050998 nitric-oxide synthase binding
GO:0060048 cardiac muscle contraction
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0086001 cardiac muscle cell action potential
GO:0090287 regulation of cellular response to growth factor stimulus
GO:1901385 regulation of voltage-gated calcium channel activity
GO:1902083 negative regulation of peptidyl-cysteine S-nitrosylation
GO:2000651 positive regulation of sodium ion transmembrane transporter activity

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR000433 Zinc finger, ZZ-typeDomainDomain
IPR001202 WW domainDomainDomain
IPR001589 Actinin-type actin-binding domain, conserved siteSiteConserved site
IPR001715 Calponin homology domainDomainDomain
IPR002017 Spectrin repeatRepeatRepeat
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR015153 EF-hand domain, type 1DomainDomain
IPR015154 EF-hand domain, type 2DomainDomain
IPR018159 Spectrin/alpha-actininRepeatRepeat
IPR035436 Dystrophin/utrophinFamilyFamily
IPR036020 WW domain superfamilyFamilyHomologous superfamily
IPR036872 CH domain superfamilyFamilyHomologous superfamily
IPR043145 Zinc finger, ZZ-type superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
302045 OMIMCardiomyopathy, dilated, X-linked 3B (CMD3B)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
300376 OMIMBecker muscular dystrophy (BMD)A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy. The disease is caused by variants affecting the gene represented in this entry.
310200 OMIMDuchenne muscular dystrophy (DMD)Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB15593 GolodirsenDrugbankbiotech

Interactions

42 interactions

InteractorPartnerSourcesPublicationsLink
DMD_HUMANDTNA_HUMANBioGRID, HPRD, IntAct, MINT10767429 16448387 28514442 9356463 9701558 details
DMD_HUMANDTNB_HUMANBioGRID, HPRD, IntAct, MINT10545507 16448387 25416956 28514442 31515488 32296183 9395493 details
DMD_HUMANSNTB1_HUMANBioGRID, HPRD, IntAct28514442 7844150 8576247 details
DMD_HUMANSNTB2_HUMANBioGRID, HPRD, IntAct22937058 28514442 8576247 details
DMD_HUMANDISC1_HUMANBioGRID, IntAct17043677 31413325 details
DMD_HUMANDAG1_HUMANBioGRID, HPRD, IntAct10355629 10932245 19109891 7592992 details
DMD_HUMANM3K5_HUMANBioGRID, IntAct20936779 details
DMD_HUMANMPIP1_HUMANBioGRID, IntAct21988832 details
DMD_HUMANHAUS1_HUMANBioGRID, IntAct25416956 28514442 details
DMD_HUMANCTNL1_HUMANBioGRID, IntAct21115837 25416956 28514442 32296183 details
DMD_HUMANPICK1_HUMANBioGRID, IntAct32296183 details
DMD_HUMANHNF4A_HUMANBioGRID, IntAct25910212 details
DMD_HUMANSNTA1_HUMANBioGRID, HPRD, IntAct10747910 11571312 18468998 28514442 7890602 8576247 9412493 details
DMD_HUMANSNTG2_HUMANBioGRID, HPRD, IntAct10747910 28514442 details
DMD_HUMANMIPT3_HUMANBioGRID, IntAct17043677 31413325 details
DMD_HUMANACTS_HUMANBioGRID, HPRD11259305 1544421 details
DMD_HUMANA4_HUMANBioGRID21832049 details
DMD_HUMANSNTG1_HUMANBioGRID, HPRD10747910 11352924 details
DMD_HUMANTRI63_HUMANBioGRID33106653 details
DMD_HUMANCAPS1_HUMANHPRD12659812 details
DMD_HUMANCAPS2_HUMANHPRD12659812 details
DMD_HUMANK1C19_HUMANHPRD, IntAct16000376 details
DMD_HUMANANK2_HUMANIntAct19109891 details
DMD_HUMANUTRN_HUMANBioGRID, HPRD, IntAct10767429 28514442 details
DMD_HUMANKCJ12_HUMANBioGRID, HPRD15024025 details
DMD_HUMANKCNJ4_HUMANBioGRID15024025 details
DMD_HUMANTERF1_HUMANBioGRID20811636 details
DMD_HUMANTERF2_HUMANBioGRID20811636 details
DMD_HUMANNFX1_HUMANBioGRID17267499 details
DMD_HUMANMARK2_HUMANBioGRID19945424 details
DMD_HUMANCAVN1_HUMANBioGRID22937058 details
DMD_HUMANAHNK_HUMANBioGRID22937058 details
DMD_HUMANNOS1_HUMANBioGRID7545544 details
DMD_HUMANGAN_HUMANBioGRID26460568 details
DMD_HUMANAPRIO_HUMANBioGRID11032878 details
DMD_HUMANPRIO_HUMANBioGRID11032878 details
DMD_HUMANPGM5_HUMANHPRD10867799 7890770 details
DMD_HUMANDGKZ_HUMANHPRD11352924 details
DMD_HUMANSGCZ_HUMANHPRD12189167 details
DMD_HUMANDMD_HUMANHPRD10801490 details
DMD_HUMANACTC_HUMANHPRD11997265 details
DMD_HUMANTNFL6_HUMANHPRD11741599 details