HUMAN:DMD

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Species (Taxon ID)	Homo sapiens (Human). (taxon:9606)
Gene Name(s)	DMD
Protein Name(s)	Dystrophin
External Links
UniProt Identifier	DMD_HUMAN
UniProt Accessions	P11532, Q02295, Q14169, Q14170, Q5JYU0, Q7KZ48, Q9UCW3, Q9UCW4,
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, 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, AL139278, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL096699, AL109609, AL451144, AL451144, AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL031643, AL096699, AL109609, AL139278, U27203, U27203, X15148, X06178, X06179, X13045, X13046, X13047, X13048, X15495, X54820,
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_004008.1, NP_004009.1, NP_004010.1, NP_004011.2, NP_004012.1, NP_004013.1, NP_004014.1,
PDB	1DXX, 1EG3, 1EG4,
IntAct	P11532,
Ensembl	ENST00000357033,
Pfam	PF00307, PF09068, PF09069, PF00435, PF00397, PF00569,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect
	GO:0002162	dystroglycan binding	PMID:7592992^[1]	IPI: Inferred from Physical Interaction	UniProtKB:Q28685	F
	GO:0003779	actin binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001589	F
	GO:0003779	actin binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0009	F
	GO:0003779	actin binding	PMID:12376554^[2]	TAS: Traceable Author Statement		F
	GO:0005200	structural constituent of cytoskeleton	PMID:3282674^[3]	TAS: Traceable Author Statement		F
	GO:0005515	protein binding	PMID:14600269^[4]	IPI: Inferred from Physical Interaction	UniProtKB:O70585	F
	GO:0005515	protein binding	PMID:16000376^[5]	IPI: Inferred from Physical Interaction	UniProtKB:P08727	F
	GO:0005515	protein binding	PMID:16000376^[5]	IPI: Inferred from Physical Interaction	UniProtKB:P08727	F
	GO:0005515	protein binding	PMID:16777071^[6]	IPI: Inferred from Physical Interaction	UniProtKB:O15061	F
	GO:0005515	protein binding	PMID:19109891^[7]	IPI: Inferred from Physical Interaction	UniProtKB:Q01484	F
	GO:0005515	protein binding	PMID:19109891^[7]	IPI: Inferred from Physical Interaction	UniProtKB:Q3T1J5	F
	GO:0005515	protein binding	PMID:8576247^[8]	IPI: Inferred from Physical Interaction	UniProtKB:Q13425	F
	GO:0005515	protein binding	PMID:8576247^[8]	IPI: Inferred from Physical Interaction	UniProtKB:Q13884	F
	GO:0005737	cytoplasm	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0963	C
	GO:0005829	cytosol	Reactome:REACT_16902	TAS: Traceable Author Statement		C
	GO:0005829	cytosol	Reactome:REACT_16935	TAS: Traceable Author Statement		C
	GO:0005829	cytosol	Reactome:REACT_16995	TAS: Traceable Author Statement		C
	GO:0005829	cytosol	Reactome:REACT_17057	TAS: Traceable Author Statement		C
	GO:0005856	cytoskeleton	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0206	C
	GO:0005856	cytoskeleton	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0090	C
	GO:0005856	cytoskeleton	PMID:3282674^[3]	TAS: Traceable Author Statement		C
	GO:0005886	plasma membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-1003	C
	GO:0007517	muscle organ development	PMID:1824797^[9]	NAS: Non-traceable Author Statement		P
	GO:0008270	zinc ion binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000433	F
	GO:0008307	structural constituent of muscle	PMID:16000376^[5]	IDA: Inferred from Direct Assay		F
	GO:0008307	structural constituent of muscle	PMID:3287171^[10]	TAS: Traceable Author Statement		F
	GO:0009986	cell surface	PMID:10867799^[11]	IDA: Inferred from Direct Assay		C
	GO:0016010	dystrophin-associated glycoprotein complex	PMID:17993586^[12]	IDA: Inferred from Direct Assay		C
	GO:0016010	dystrophin-associated glycoprotein complex	PMID:7592992^[1]	NAS: Non-traceable Author Statement		C
	GO:0016010	dystrophin-associated glycoprotein complex	PMID:8282811^[13]	TAS: Traceable Author Statement		C
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0030049	muscle filament sliding	Reactome:REACT_16969	TAS: Traceable Author Statement		P
	GO:0042383	sarcolemma	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0238	C
	GO:0042383	sarcolemma	PMID:7545544^[14]	IDA: Inferred from Direct Assay		C
	GO:0043034	costamere	PMID:16000376^[5]	IDA: Inferred from Direct Assay		C
	GO:0043043	peptide biosynthetic process	PMID:16000376^[5]	IDA: Inferred from Direct Assay		P
	GO:0046872	metal ion binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0479	F
	GO:0050998	nitric-oxide synthase binding	PMID:7545544^[14]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P11531	F
	GO:0002162	dystroglycan binding	PMID:7592992^[1]	IPI: Inferred from Physical Interaction	UniProtKB:Q28685	F
	GO:0003779	actin binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001589	F
	GO:0003779	actin binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0009	F
	GO:0003779	actin binding	PMID:12376554^[2]	TAS: Traceable Author Statement		F
	GO:0005178	integrin binding	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000063713	F
	GO:0005200	structural constituent of cytoskeleton	PMID:3282674^[3]	TAS: Traceable Author Statement		F
	GO:0005515	protein binding	PMID:14600269^[4]	IPI: Inferred from Physical Interaction	UniProtKB:O70585	F
	GO:0005515	protein binding	PMID:16000376^[5]	IPI: Inferred from Physical Interaction	UniProtKB:P08727	F
	GO:0005515	protein binding	PMID:16000376^[5]	IPI: Inferred from Physical Interaction	UniProtKB:P08727	F
	GO:0005515	protein binding	PMID:16777071^[6]	IPI: Inferred from Physical Interaction	UniProtKB:O15061	F
	GO:0005515	protein binding	PMID:19109891^[7]	IPI: Inferred from Physical Interaction	UniProtKB:Q01484	F
	GO:0005515	protein binding	PMID:19109891^[7]	IPI: Inferred from Physical Interaction	UniProtKB:Q3T1J5	F
	GO:0005515	protein binding	PMID:8576247^[8]	IPI: Inferred from Physical Interaction	UniProtKB:Q13425	F
	GO:0005515	protein binding	PMID:8576247^[8]	IPI: Inferred from Physical Interaction	UniProtKB:Q13884	F
	GO:0005626	insoluble fraction	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0005634	nucleus	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000063713	C
	GO:0005737	cytoplasm	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0963	C
	GO:0005792	microsome	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0005829	cytosol	Reactome:REACT_16902	TAS: Traceable Author Statement		C
	GO:0005829	cytosol	Reactome:REACT_16935	TAS: Traceable Author Statement		C
	GO:0005829	cytosol	Reactome:REACT_16995	TAS: Traceable Author Statement		C
	GO:0005829	cytosol	Reactome:REACT_17057	TAS: Traceable Author Statement		C
	GO:0005856	cytoskeleton	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0206	C
	GO:0005856	cytoskeleton	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0090	C
	GO:0005856	cytoskeleton	PMID:3282674^[3]	TAS: Traceable Author Statement		C
	GO:0005886	plasma membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-1003	C
	GO:0005886	plasma membrane	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0006355	regulation of transcription, DNA-dependent	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	P
	GO:0007517	muscle organ development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	P
	GO:0007517	muscle organ development	PMID:1824797^[9]	NAS: Non-traceable Author Statement		P
	GO:0007519	skeletal muscle tissue development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	P
	GO:0008270	zinc ion binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000433	F
	GO:0008307	structural constituent of muscle	PMID:16000376^[5]	IDA: Inferred from Direct Assay		F
	GO:0008307	structural constituent of muscle	PMID:3287171^[10]	TAS: Traceable Author Statement		F
	GO:0009986	cell surface	PMID:10867799^[11]	IDA: Inferred from Direct Assay		C
	GO:0016010	dystrophin-associated glycoprotein complex	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0016010	dystrophin-associated glycoprotein complex	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000063713	C
	GO:0016010	dystrophin-associated glycoprotein complex	PMID:17993586^[12]	IDA: Inferred from Direct Assay		C
	GO:0016010	dystrophin-associated glycoprotein complex	PMID:7592992^[1]	NAS: Non-traceable Author Statement		C
	GO:0016010	dystrophin-associated glycoprotein complex	PMID:8282811^[13]	TAS: Traceable Author Statement		C
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0021629	olfactory nerve structural organization	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	P
	GO:0030016	myofibril	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000063713	C
	GO:0030018	Z disc	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0030049	muscle filament sliding	Reactome:REACT_16969	TAS: Traceable Author Statement		P
	GO:0030055	cell-substrate junction	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0030165	PDZ domain binding	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000063713	F
	GO:0042383	sarcolemma	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0042383	sarcolemma	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000063713	C
	GO:0042383	sarcolemma	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0238	C
	GO:0042383	sarcolemma	PMID:7545544^[14]	IDA: Inferred from Direct Assay		C
	GO:0043034	costamere	PMID:16000376^[5]	IDA: Inferred from Direct Assay		C
	GO:0043043	peptide biosynthetic process	PMID:16000376^[5]	IDA: Inferred from Direct Assay		P
	GO:0044306	neuron projection terminus	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0045121	membrane raft	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0045202	synapse	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	C
	GO:0045213	neurotransmitter receptor metabolic process	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	P
	GO:0046716	muscle cell homeostasis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000109633	P
	GO:0046872	metal ion binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0479	F
	GO:0048812	neuron projection morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000063713	P
	GO:0050998	nitric-oxide synthase binding	PMID:7545544^[14]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P11531	F
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Notes

References

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

↑ ^1.0 ^1.1 ^1.2 ^1.3 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
↑ ^2.0 ^2.1 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
↑ ^3.0 ^3.1 ^3.2 ^3.3 Koenig M et al. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53: 219-28 PubMed GONUTS page
↑ ^4.0 ^4.1 Macioce P et al. (2003) Beta-dystrobrevin interacts directly with kinesin heavy chain in brain. J Cell Sci 116: 4847-56 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 ^5.7 ^5.8 ^5.9 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
↑ ^6.0 ^6.1 Bhosle RC et al. (2006) Interactions of intermediate filament protein synemin with dystrophin and utrophin. Biochem Biophys Res Commun 346: 768-77 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 Ayalon G et al. (2008) An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan. Cell 135: 1189-200 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 ^8.3 Ahn AH et al. (1996) The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. J Biol Chem 271: 2724-30 PubMed GONUTS page
↑ ^9.0 ^9.1 Lee CC et al. (1991) Expression of recombinant dystrophin and its localization to the cell membrane. Nature 349: 334-6 PubMed GONUTS page
↑ ^10.0 ^10.1 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
↑ ^11.0 ^11.1 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
↑ ^12.0 ^12.1 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
↑ ^13.0 ^13.1 Worton RG (1994) Dystrophin: the long and short of it. J Clin Invest 93: 4 PubMed GONUTS page
↑ ^14.0 ^14.1 ^14.2 ^14.3 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:7592992-0] 1.0 ^1.1 ^1.2 ^1.3 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:12376554-1] 2.0 ^2.1 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:3282674-2] 3.0 ^3.1 ^3.2 ^3.3 Koenig M et al. (1988) The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53: 219-28 PubMed GONUTS page

[PMID:14600269-3] 4.0 ^4.1 Macioce P et al. (2003) Beta-dystrobrevin interacts directly with kinesin heavy chain in brain. J Cell Sci 116: 4847-56 PubMed GONUTS page

[PMID:16000376-4] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 ^5.6 ^5.7 ^5.8 ^5.9 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:16777071-5] 6.0 ^6.1 Bhosle RC et al. (2006) Interactions of intermediate filament protein synemin with dystrophin and utrophin. Biochem Biophys Res Commun 346: 768-77 PubMed GONUTS page

[PMID:19109891-6] 7.0 ^7.1 ^7.2 ^7.3 Ayalon G et al. (2008) An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan. Cell 135: 1189-200 PubMed GONUTS page

[PMID:8576247-7] 8.0 ^8.1 ^8.2 ^8.3 Ahn AH et al. (1996) The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. J Biol Chem 271: 2724-30 PubMed GONUTS page

[PMID:1824797-8] 9.0 ^9.1 Lee CC et al. (1991) Expression of recombinant dystrophin and its localization to the cell membrane. Nature 349: 334-6 PubMed GONUTS page

[PMID:3287171-9] 10.0 ^10.1 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:10867799-10] 11.0 ^11.1 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:17993586-11] 12.0 ^12.1 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:8282811-12] 13.0 ^13.1 Worton RG (1994) Dystrophin: the long and short of it. J Clin Invest 93: 4 PubMed GONUTS page

[PMID:7545544-13] 14.0 ^14.1 ^14.2 ^14.3 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

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HUMAN:DMD

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