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Dystrophin

Summary

UniProt ID

P11532

Gene Symbol

Gene ID

[1756]

Organism

Homo sapiens (human)

External Links

GlyGen: P11532
PubChem: P11532
The O-GlcNAc Database: P11532
RaftProt: P11532
O-GlcNAcAtlas: P11532
Re-Glyco: P11532

Annotation

Keyword: 3D-structure Actin-binding Alternative promoter usage Alternative splicing Calcium Cardiomyopathy Cell membrane Cytoskeleton Disease variant Phosphoprotein Postsynaptic cell membrane Proteomics identification Reference proteome Repeat Zinc-finger

Gene Ontology (GO)

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GO Term	Evidence Code	Reference
regulation of heart rate	IMP	PMID
regulation of heart rate	IEA	GO_REF
muscle organ development	NAS	PMID
skeletal muscle tissue development	IBA	GO_REF
protein localization	IMP	PMID

GO Hierarchy

biological process

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

synaptic signaling

signal transduction [inference]

intracellular signal transduction [inference]

intracellular signaling cassette [inference]

calcium-mediated signaling [inference]

regulation of cardiac muscle contraction by calcium ion signaling [inference]

regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion

regulation of skeletal muscle contraction by calcium ion signaling [inference]

regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion

metabolic process [inference]

peptide metabolic process [inference]

peptide biosynthetic process

biosynthetic process [inference]

peptide biosynthetic process

cellular developmental process [inference]

cell development [inference]

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cilium organization [inference]

cilium assembly [inference]

motile cilium assembly

organelle assembly [inference]

cilium assembly [inference]

motile cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly [inference]

motile cilium assembly

protein-containing complex assembly

organelle assembly [inference]

cilium assembly [inference]

motile cilium assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly [inference]

motile cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly [inference]

motile cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly [inference]

motile cilium assembly

protein-containing complex organization [inference]

protein-containing complex assembly

multicellular organismal process [inference]

system process [inference]

muscle system process [inference]

muscle contraction [inference]

striated muscle contraction [inference]

cardiac muscle contraction

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

maintenance of blood-brain barrier

developmental process [inference]

anatomical structure development [inference]

tissue development [inference]

muscle tissue development [inference]

striated muscle tissue development [inference]

skeletal muscle tissue development

cell development [inference]

animal organ development [inference]

muscle organ development

muscle structure development [inference]

muscle organ development

cellular developmental process [inference]

cell development [inference]

homeostatic process [inference]

cellular homeostasis [inference]

muscle cell cellular homeostasis

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

maintenance of blood-brain barrier

response to stimulus [inference]

response to external stimulus [inference]

response to mechanical stimulus [inference]

response to muscle stretch

response to abiotic stimulus [inference]

response to mechanical stimulus [inference]

response to muscle stretch

localization [inference]

macromolecule localization [inference]

intracellular protein localization

biological regulation [inference]

regulation of biological process [inference]

signaling [inference]

cell-cell signaling [inference]

synaptic signaling

regulation of localization [inference]

regulation of transport [inference]

regulation of transmembrane transport [inference]

regulation of monoatomic ion transmembrane transport [inference]

regulation of monoatomic cation transmembrane transport [inference]

regulation of sodium ion transmembrane transport

regulation of calcium ion transmembrane transport

regulation of release of sequestered calcium ion into cytosol [inference]

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

regulation of monoatomic ion transport [inference]

regulation of metal ion transport [inference]

regulation of sodium ion transport [inference]

regulation of sodium ion transmembrane transport

regulation of calcium ion transport [inference]

regulation of calcium ion transmembrane transport

regulation of release of sequestered calcium ion into cytosol [inference]

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

regulation of monoatomic ion transmembrane transport [inference]

regulation of monoatomic cation transmembrane transport [inference]

regulation of sodium ion transmembrane transport

regulation of calcium ion transmembrane transport

regulation of release of sequestered calcium ion into cytosol [inference]

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell differentiation [inference]

positive regulation of neuron differentiation

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of neuron projection development

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of neuron differentiation

regulation of response to stimulus [inference]

regulation of cellular response to growth factor stimulus

regulation of developmental process [inference]

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of neuron differentiation

regulation of neuron differentiation [inference]

positive regulation of neuron differentiation

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of neuron differentiation

regulation of cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

intracellular signaling cassette [inference]

calcium-mediated signaling [inference]

regulation of cardiac muscle contraction by calcium ion signaling [inference]

regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion

regulation of skeletal muscle contraction by calcium ion signaling [inference]

regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion

regulation of transmembrane transport [inference]

regulation of monoatomic ion transmembrane transport [inference]

regulation of monoatomic cation transmembrane transport [inference]

regulation of sodium ion transmembrane transport

regulation of calcium ion transmembrane transport

regulation of release of sequestered calcium ion into cytosol [inference]

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of neuron differentiation

regulation of neuron differentiation [inference]

positive regulation of neuron differentiation

positive regulation of cellular process [inference]

positive regulation of cell differentiation [inference]

positive regulation of neuron differentiation

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of neuron projection development

regulation of cellular component organization [inference]

regulation of cell projection organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of neuron projection development

regulation of plasma membrane bounded cell projection organization [inference]

regulation of neuron projection development [inference]

positive regulation of neuron projection development

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of neuron projection development

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of muscle system process

regulation of muscle contraction [inference]

regulation of striated muscle contraction [inference]

regulation of skeletal muscle contraction

regulation of skeletal muscle contraction by calcium ion signaling [inference]

regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle contraction by calcium ion signaling [inference]

regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion

regulation of blood circulation [inference]

regulation of heart contraction [inference]

regulation of heart rate

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle contraction by calcium ion signaling [inference]

regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion

regulation of biological quality [inference]

regulation of heart rate

regulation of membrane potential [inference]

action potential [inference]

cardiac muscle cell action potential

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GO Term	Evidence Code	Reference
nucleus	TAS	PMID
nucleus	IDA	PMID
nucleus	IEA	GO_REF
cytosol	TAS	Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome
cytoskeleton	TAS	PMID

GO Hierarchy

cellular component

protein-containing complex

glycoprotein complex [inference]

dystrophin-associated glycoprotein complex

membrane protein complex [inference]

plasma membrane protein complex [inference]

cellular anatomical structure [inference]

membrane [inference]

plasma membrane

sarcolemma

plasma membrane region [inference]

cell projection membrane [inference]

filopodium membrane

synaptic membrane [inference]

postsynaptic membrane

membrane microdomain [inference]

membrane raft

Z disc

cell junction [inference]

synapse

anchoring junction [inference]

cell-substrate junction

cell projection [inference]

plasma membrane bounded cell projection [inference]

actin-based cell projection [inference]

filopodium

costamere

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

membraneless organelle [inference]

intracellular membraneless organelle [inference]

cytoskeleton

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular membraneless organelle [inference]

cytoskeleton

neuron projection terminus

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GO Term	Evidence Code	Reference
dystroglycan binding	IPI	PMID
actin binding	TAS	PMID
actin binding	IDA	PMID
actin binding	IEA	GO_REF GO_REF
structural constituent of cytoskeleton	TAS	PMID

GO Hierarchy

molecular function

structural molecule activity [inference]

binding [inference]

protein binding [inference]

dystroglycan binding

cytoskeletal protein binding [inference]

enzyme binding [inference]

nitric-oxide synthase binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

zinc ion binding

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MLWWEEVEDCYEREDVQKKTFTKWVNAQFSKFGKQHIENLFSDLQDGRRLLDLLEGLTGQKLPKEKGSTRVHALNNVNKALRVLQNNNVDLVNIGSTDIVDGNHKLTLGLIWNIILHWQVKNVMKNIMAGLQQTNSEKILLSWVRQSTRNYPQVNVINFTTSWSDGLALNALIHSHRPDLFDWNSVVCQQSATQRLEHAFNIARYQLGIEKLLDPEDVDTTYPDKKSILMYITSLFQVLPQQVSIEAIQEVEMLPRPPKVTKEEHFQLHHQMHYSQQITVSLAQGYERTSSPKPRFKSYAYTQAAYVTTSDPTRSPFPSQHLEAPEDKSFGSSLMESEVNLDRYQTALEEVLSWLLSAEDTLQAQGEISNDVEVVKDQFHTHEGYMMDLTAHQGRVGNILQLGSKLIGTGKLSEDEETEVQEQMNLLNSRWECLRVASMEKQSNLHRVLMDLQNQKLKELNDWLTKTEERTRKMEEEPLGPDLEDLKRQVQQHKVLQEDLEQEQVRVNSLTHMVVVVDESSGDHATAALEEQLKVLGDRWANICRWTEDRWVLLQDILLKWQRLTEEQCLFSAWLSEKEDAVNKIHTTGFKDQNEMLSSLQKLAVLKADLEKKKQSMGKLYSLKQDLLSTLKNKSVTQKTEAWLDNFARCWDNLVQKLEKSTAQISQAVTTTQPSLTQTTVMETVTTVTTREQILVKHAQEELPPPPPQKKRQITVDSEIRKRLDVDITELHSWITRSEAVLQSPEFAIFRKEGNFSDLKEKVNAIEREKAEKFRKLQDASRSAQALVEQMVNEGVNADSIKQASEQLNSRWIEFCQLLSERLNWLEYQNNIIAFYNQLQQLEQMTTTAENWLKIQPTTPSEPTAIKSQLKICKDEVNRLSDLQPQIERLKIQSIALKEKGQGPMFLDADFVAFTNHFKQVFSDVQAREKELQTIFDTLPPMRYQETMSAIRTWVQQSETKLSIPQLSVTDYEIMEQRLGELQALQSSLQEQQSGLYYLSTTVKEMSKKAPSEISRKYQSEFEEIEGRWKKLSSQLVEHCQKLEEQMNKLRKIQNHIQTLKKWMAEVDVFLKEEWPALGDSEILKKQLKQCRLLVSDIQTIQPSLNSVNEGGQKIKNEAEPEFASRLETELKELNTQWDHMCQQVYARKEALKGGLEKTVSLQKDLSEMHEWMTQAEEEYLERDFEYKTPDELQKAVEEMKRAKEEAQQKEAKVKLLTESVNSVIAQAPPVAQEALKKELETLTTNYQWLCTRLNGKCKTLEEVWACWHELLSYLEKANKWLNEVEFKLKTTENIPGGAEEISEVLDSLENLMRHSEDNPNQIRILAQTLTDGGVMDELINEELETFNSRWRELHEEAVRRQKLLEQSIQSAQETEKSLHLIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISLEEMKKHNQGKEAAQRVLSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQSQLNHCVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVTERKQQLEKCLKLSRKMRKEMNVLTEWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKEIEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVTSRAEEWLNLLLEYQKHMETFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAANLMANRGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAEIQQGVNLKEEDFNKDMNEDNEGTVKELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNALKDLRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLPEPRDERKIKEIDRELQKKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREETMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKNIKDSLQQSSGRIDIIHSKKTAALQSATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFDRSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWYLKELQDGIGQRQTVVRTLNATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDLNEFVLWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVSAPISPEEQDKLENKLKQTNLQWIKVSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHLLLWLSPIRNQLEIYNQPNQEGPFDVKETEIAVQAKQPDVEEILSKGQHLYKEKPATQPVKRKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLEMPSSLMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQEARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETKQLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEKFLAWLTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNFKWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMSTLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLRELQEATDELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRWKLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFSAYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLNVYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVRSCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPASSPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERGELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLNNSFPSSRGRNTPGKPMREDTM

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 6** entries
Position	PubMed ID	GlyTouCan ID	Source
755		G88891KO	GlyGen
858	29485866 30379171 37217939 37340703	G49108TO	The O-GlcNAc Database
859	29485866 30379171 37217939 37340703	G49108TO	The O-GlcNAc Database
1455	29485866 30379171 37217939 37340703	G49108TO	GlyGen The O-GlcNAc Database
1598	29485866 30379171 37217939 37340703	G49108TO	GlyGen The O-GlcNAc Database
3607		G59324HL	GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 3** entries
Pathway Name	Organism
Formation of the dystrophin-glycoprotein complex (DGC)	Homo sapiens
Non-integrin membrane-ECM interactions	Homo sapiens
Striated Muscle Contraction	Homo sapiens

Disease

Displaying **all 6** entries
DO ID	Disease Name	Source
DOID:9883	Becker muscular dystrophy	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1059	intellectual disability	Alliance of Genome Resources
DOID:1561	cognitive disorder	Alliance of Genome Resources
DOID:0110461	dilated cardiomyopathy 3B	Alliance of Genome Resources
DOID:12930	dilated cardiomyopathy	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

International Collaboration

Acknowledgements