MOUSE:DESM

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Des
Protein Name(s)	Desmin
External Links
UniProt	P31001
EMBL	L22550 BC031760 Z18892
CCDS	CCDS15071.1
PIR	A54104
RefSeq	NP_034173.1
UniGene	Mm.6712
ProteinModelPortal	P31001
SMR	P31001
BioGrid	199210
DIP	DIP-256N
IntAct	P31001
MINT	MINT-220806
PhosphoSite	P31001
SWISS-2DPAGE	P31001
MaxQB	P31001
PaxDb	P31001
PRIDE	P31001
Ensembl	ENSMUST00000027409
GeneID	13346
KEGG	mmu:13346
UCSC	uc007box.1
CTD	1674
MGI	MGI:94885
eggNOG	NOG147125
HOGENOM	HOG000230977
HOVERGEN	HBG013015
InParanoid	P31001
KO	K07610
OMA	VYQVSRS
OrthoDB	EOG7FV3Q8
PhylomeDB	P31001
TreeFam	TF330122
Reactome	REACT_232053
NextBio	283662
PMAP-CutDB	P31001
PRO	PR:P31001
Proteomes	UP000000589
Bgee	P31001
CleanEx	MM_DES
ExpressionAtlas	P31001
Genevestigator	P31001
GO	GO:0043292 GO:0005737 GO:0005856 GO:0005916 GO:0005882 GO:0005622 GO:0031594 GO:0042383 GO:0030018 GO:0005200 GO:0007517
InterPro	IPR027698 IPR001664 IPR006821 IPR018039
PANTHER	PTHR23239 PTHR23239:SF28
Pfam	PF00038 PF04732
PROSITE	PS00226

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0014873	response to muscle activity involved in regulation of muscle adaptation	PMID:21209367^[1]	ECO:0000315			P		Figure 6, Figure 7	complete
	GO:0048312	intracellular distribution of mitochondria	PMID:21209367^[1]	ECO:0000315			P		Figure 2 G	complete
part_of	GO:0005737	cytoplasm	PMID:26787680^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:26787680^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:26787680^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0045109	intermediate filament organization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P17661	P		Seeded From UniProt	complete
part_of	GO:0042383	sarcolemma	PMID:25394388^[3]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
colocalizes_with	GO:0005882	intermediate filament	PMID:16917092^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0097512	cardiac myofibril	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P17661	C		Seeded From UniProt	complete
part_of	GO:0045111	intermediate filament cytoskeleton	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P17661	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045109	intermediate filament organization	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P17661	P		Seeded From UniProt	complete
part_of	GO:0045098	type III intermediate filament	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:620686	C		Seeded From UniProt	complete
part_of	GO:0043292	contractile fiber	PMID:14627610^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P17661	F		Seeded From UniProt	complete
part_of	GO:0042383	sarcolemma	PMID:11694502^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0042383	sarcolemma	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P17661	C		Seeded From UniProt	complete
part_of	GO:0031594	neuromuscular junction	PMID:11694502^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:15138196^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:14627610^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:11694502^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:10532952^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:620686	C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	GO_REF:0000008	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P17661	C		Seeded From UniProt	complete
part_of	GO:0014704	intercalated disc	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P17661	C		Seeded From UniProt	complete
enables	GO:0008092	cytoskeletal protein binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P17661	F		Seeded From UniProt	complete
part_of	GO:0005921	gap junction	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:620686	C		Seeded From UniProt	complete
part_of	GO:0005916	fascia adherens	PMID:11732910^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005911	cell-cell junction	PMID:24532688^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	PMID:11694502^[6]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:32716)	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:21177767^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0097512	cardiac myofibril	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17661 ensembl:ENSP00000363071	C		Seeded From UniProt	complete
part_of	GO:0045111	intermediate filament cytoskeleton	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17661 ensembl:ENSP00000363071	C		Seeded From UniProt	complete
involved_in	GO:0045109	intermediate filament organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17661 ensembl:ENSP00000363071	P		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17661 ensembl:ENSP00000363071	F		Seeded From UniProt	complete
part_of	GO:0042383	sarcolemma	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17661 ensembl:ENSP00000363071	C		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17661 ensembl:ENSP00000363071	C		Seeded From UniProt	complete
part_of	GO:0014704	intercalated disc	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17661 ensembl:ENSP00000363071	C		Seeded From UniProt	complete
enables	GO:0008092	cytoskeletal protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P17661 ensembl:ENSP00000363071	F		Seeded From UniProt	complete
part_of	GO:0045111	intermediate filament cytoskeleton	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q53SB5 ensembl:ENSP00000363071	C		Seeded From UniProt	complete
enables	GO:0005198	structural molecule activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001664	F		Seeded From UniProt	complete
part_of	GO:0005882	intermediate filament	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001664 InterPro:IPR006821 InterPro:IPR027698	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007517	muscle organ development	PMID:7720554^[12]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005200	structural constituent of cytoskeleton	PMID:2370005^[13]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		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
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
part_of	GO:0005882	intermediate filament	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0403	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	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: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:0030018	Z disc	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0314	C		Seeded From UniProt	complete
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Notes

References

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

↑ ^1.0 ^1.1 Lovering, RM et al. (2011) Physiology, structure, and susceptibility to injury of skeletal muscle in mice lacking keratin 19-based and desmin-based intermediate filaments. Am. J. Physiol., Cell Physiol. 300 C803-13 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 Fuchs, C et al. (2016) Desmin enters the nucleus of cardiac stem cells and modulates Nkx2.5 expression by participating in transcription factor complexes that interact with the nkx2.5 gene. Biol Open 5 140-53 PubMed GONUTS page
↑ Clemen, CS et al. (2015) The toxic effect of R350P mutant desmin in striated muscle of man and mouse. Acta Neuropathol. 129 297-315 PubMed GONUTS page
↑ Yang, Z et al. (2006) Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ. Res. 99 646-55 PubMed GONUTS page
↑ ^5.0 ^5.1 Koh, TJ & Escobedo, J (2004) Cytoskeletal disruption and small heat shock protein translocation immediately after lengthening contractions. Am. J. Physiol., Cell Physiol. 286 C713-22 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 Poon, E et al. (2002) Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. J. Biol. Chem. 277 3433-9 PubMed GONUTS page
↑ Kramerova, I et al. (2004) Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. Hum. Mol. Genet. 13 1373-88 PubMed GONUTS page
↑ Yang, Q et al. (1999) In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy. Circ. Res. 85 841-7 PubMed GONUTS page
↑ Zhang, JQ et al. (2001) Ultrastructural and biochemical localization of N-RAP at the interface between myofibrils and intercalated disks in the mouse heart. Biochemistry 40 14898-906 PubMed GONUTS page
↑ Dey, BK et al. (2014) The H19 long noncoding RNA gives rise to microRNAs miR-675-3p and miR-675-5p to promote skeletal muscle differentiation and regeneration. Genes Dev. 28 491-501 PubMed GONUTS page
↑ Picchione, F et al. (2011) IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). Carcinogenesis 32 452-61 PubMed GONUTS page
↑ Braun, T et al. (1994) MyoD expression marks the onset of skeletal myogenesis in Myf-5 mutant mice. Development 120 3083-92 PubMed GONUTS page
↑ Li, ZL et al. (1990) Assignment of the mouse desmin gene to chromosome 1 band C3. Genet. Res. 55 101-5 PubMed GONUTS page

[PMID:21209367-1] 1.0 ^1.1 Lovering, RM et al. (2011) Physiology, structure, and susceptibility to injury of skeletal muscle in mice lacking keratin 19-based and desmin-based intermediate filaments. Am. J. Physiol., Cell Physiol. 300 C803-13 PubMed GONUTS page

[PMID:26787680-2] 2.0 ^2.1 ^2.2 Fuchs, C et al. (2016) Desmin enters the nucleus of cardiac stem cells and modulates Nkx2.5 expression by participating in transcription factor complexes that interact with the nkx2.5 gene. Biol Open 5 140-53 PubMed GONUTS page

[PMID:25394388-3] Clemen, CS et al. (2015) The toxic effect of R350P mutant desmin in striated muscle of man and mouse. Acta Neuropathol. 129 297-315 PubMed GONUTS page

[PMID:16917092-4] Yang, Z et al. (2006) Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ. Res. 99 646-55 PubMed GONUTS page

[PMID:14627610-5] 5.0 ^5.1 Koh, TJ & Escobedo, J (2004) Cytoskeletal disruption and small heat shock protein translocation immediately after lengthening contractions. Am. J. Physiol., Cell Physiol. 286 C713-22 PubMed GONUTS page

[PMID:11694502-6] 6.0 ^6.1 ^6.2 ^6.3 Poon, E et al. (2002) Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. J. Biol. Chem. 277 3433-9 PubMed GONUTS page

[PMID:15138196-7] Kramerova, I et al. (2004) Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. Hum. Mol. Genet. 13 1373-88 PubMed GONUTS page

[PMID:10532952-8] Yang, Q et al. (1999) In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy. Circ. Res. 85 841-7 PubMed GONUTS page

[PMID:11732910-9] Zhang, JQ et al. (2001) Ultrastructural and biochemical localization of N-RAP at the interface between myofibrils and intercalated disks in the mouse heart. Biochemistry 40 14898-906 PubMed GONUTS page

[PMID:24532688-10] Dey, BK et al. (2014) The H19 long noncoding RNA gives rise to microRNAs miR-675-3p and miR-675-5p to promote skeletal muscle differentiation and regeneration. Genes Dev. 28 491-501 PubMed GONUTS page

[PMID:21177767-11] Picchione, F et al. (2011) IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). Carcinogenesis 32 452-61 PubMed GONUTS page

[PMID:7720554-12] Braun, T et al. (1994) MyoD expression marks the onset of skeletal myogenesis in Myf-5 mutant mice. Development 120 3083-92 PubMed GONUTS page

[PMID:2370005-13] Li, ZL et al. (1990) Assignment of the mouse desmin gene to chromosome 1 band C3. Genet. Res. 55 101-5 PubMed GONUTS page

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MOUSE:DESM

Contents

Annotations

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References

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