C1orf216 and DES

Number of citations of the paper that reports this interaction (PubMedID 32296183)
50

Data Source:
BioGRID (two hybrid)

		C1orf216	DES
Description		chromosome 1 open reading frame 216	desmin
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component		Nucleus Nuclear Envelope Cytoplasm Cytosol Cytoskeleton Intermediate Filament Plasma Membrane Cell-cell Junction Fascia Adherens Intercalated Disc Membrane Z Disc Neuromuscular Junction Sarcolemma Contractile Muscle Fiber Intermediate Filament Cytoskeleton Cell Tip Extracellular Exosome Cardiac Myofibril Supramolecular Fiber
	Molecular Function	Protein Binding	Structural Constituent Of Cytoskeleton Protein Binding Cytoskeletal Protein Binding Identical Protein Binding
	Biological Process		Muscle Contraction Nuclear Envelope Organization Cytoskeleton Organization Regulation Of Heart Contraction Intermediate Filament Organization Skeletal Muscle Organ Development
Pathways			Striated Muscle Contraction
Drugs
Diseases			Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy Dilated cardiomyopathy (DCM) Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM) Scapuloperoneal myopathy (SPM)
GWAS			Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Resting heart rate ( 27798624)
Interacting Genes		71 interacting genes: ABI2 AIMP2 AMOT BORCS6 CCDC136 CCDC158 CCDC197 CDR2 CDR2L CENPH CEP170P1 CEP55 CMC2 DES DMAP1 EIF3F EXOC5 FSD2 GGA1 HAP1 HAUS8 IFT20 KLHL20 KRT13 KRT15 KRT16 KRT24 KRT27 KRT31 KRT33B KRT34 KRT36 KRT38 KRT39 KRT40 KRT75 KRT76 LRRC61 MAGEA6 MDFI MED4 MIS18A MLPH MRFAP1L1 MTUS2 MYRIP NECAB2 NMI NRBF2 NUP62 ODAD1 PKNOX2 PPP1R16A PSMC6 RALBP1 SERTAD3 SNW1 SYCE1L THAP1 TLE5 TMCO5A TPM1 TPM3 TRAF1 TRIM54 TRIM72 USHBP1 VPS52 WASHC1 ZDHHC17 ZNF620	58 interacting genes: AURKB BAG5 BRCA1 C1orf216 CAPN1 CDC73 CLIP4 CRYAB CT55 CWF19L2 DDX6 DSP DUX1 DUX4 EHHADH ENO1 GOLGA6L9 HSPB1 ITSN1 KRT13 KRT15 KRT20 KRT33B KRT37 LBX1 LENG1 LMO4 LONRF3 M1AP MAPKAPK2 NEB NEFL NEK6 PIAS2 PIH1D2 PKD1 PLEKHA5 POLR2G PPL PPP1R18 PRPH RNF4 ROCK1 S100A1 S100B SHBG SNAPIN SPTAN1 SYNC SYNM TCEA2 TFIP11 TRIM55 TRIM63 TRIM7 UBE2I YES1 ZMYM5
Entrez ID		127703	1674
HPRD ID		08798	00514
Ensembl ID		ENSG00000142686	ENSG00000175084
Uniprot IDs		Q8TAB5	P17661 Q53SB5
PDB IDs
Enriched GO Terms of Interacting Partners?		Intermediate Filament Organization Structural Constituent Of Skin Epidermis Intermediate Filament Cytoskeleton Organization Intermediate Filament-based Process Keratin Filament Intermediate Filament Supramolecular Fiber Organization Structural Molecule Activity Cytoskeleton Cytoskeleton Organization Epithelial Cell Differentiation Morphogenesis Of An Epithelium Tissue Morphogenesis Protein Binding Organelle Organization Anatomical Structure Morphogenesis Exocyst Intermediate Filament Cytoskeleton Structural Constituent Of Cytoskeleton Identical Protein Binding Cytosol Muscle Thin Filament Tropomyosin Myosin Binding Small GTPase Binding Epidermis Development Cell Differentiation Actin Filament Post-Golgi Vesicle-mediated Transport Actin Cytoskeleton	Intermediate Filament-based Process Intermediate Filament Cytoskeleton Organization Intermediate Filament Intermediate Filament Organization Structural Constituent Of Cytoskeleton Structural Molecule Activity Contractile Muscle Fiber Cytoskeleton Organization M Band Cytoskeleton Structural Constituent Of Skin Epidermis Protein Binding Z Disc Supramolecular Fiber Organization Keratin Filament Cytoplasm Intermediate Filament Cytoskeleton Cornified Envelope Tissue Morphogenesis Organelle Organization Morphogenesis Of An Epithelium Extracellular Exosome Anterograde Axonal Transport
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