DES and SPTAN1

Data Source:
HPRD (in vitro)

		DES	SPTAN1
Description		desmin	spectrin alpha, non-erythrocytic 1
Image		No pdb structure
GO Annotations	Cellular Component	Nucleus Cytosol Intermediate Filament Fascia Adherens Intercalated Disc Z Disc Neuromuscular Junction Sarcolemma Intermediate Filament Cytoskeleton Extracellular Exosome Cardiac Myofibril	Extracellular Region Cytosol Spectrin Microtubule Cytoskeleton Membrane Specific Granule Lumen Intracellular Membrane-bounded Organelle Extracellular Exosome Extracellular Vesicle Tertiary Granule Lumen
	Molecular Function	Structural Constituent Of Cytoskeleton Protein Binding Cytoskeletal Protein Binding Identical Protein Binding	Actin Binding Structural Constituent Of Cytoskeleton Calcium Ion Binding Protein Binding Calmodulin Binding Cadherin Binding
	Biological Process	Muscle Contraction Cytoskeleton Organization Regulation Of Heart Contraction Muscle Filament Sliding Intermediate Filament Organization	MAPK Cascade Endoplasmic Reticulum To Golgi Vesicle-mediated Transport Cytoskeleton Organization Axon Guidance Neutrophil Degranulation Actin Filament Capping
Pathways		Striated Muscle Contraction	Caspase-mediated cleavage of cytoskeletal proteins Nephrin family interactions NCAM signaling for neurite out-growth NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins RAF/MAP kinase cascade Neutrophil degranulation COPI-mediated anterograde transport
Drugs
Diseases		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) Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy Scapuloperoneal myopathy (SPM) Dilated cardiomyopathy (DCM)	Early infantile epileptic encephalopathy; Ohtahara syndrome
GWAS		Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Resting heart rate ( 27798624)	Axial length ( 24144296) Body mass index ( 26426971)
Interacting Genes		60 interacting genes: AURKB BAG5 BRCA1 C1orf216 CAPN1 CLIP4 CRYAB CT55 CWF19L2 DDX6 DSP DUX1 DUX4 EHHADH ENO1 GFAP GOLGA6L9 HSPB1 ITSN1 KRT13 KRT15 KRT20 KRT33B KRT37 KRT75 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 VIM YES1 ZMYM5	56 interacting genes: ABI1 ABL1 ACP1 ACTA1 ACTB AKIP1 ANK1 CAPN1 CASP3 CASP7 CEP63 CTNNA1 DDX24 DES EPB41 EPB41L2 EPB42 ERCC4 EVL EXOC1 FANCA FANCC GAP43 GRIA2 GRIN1 GRIN2A GRIN2B GRIN2D KALRN KARS1 MAPK6 NEFL PDE4D PIN4 PLEC PLEKHA5 PRKCB PTEN PTOV1 SHANK1 SHANK3 SLC9A2 SOS1 SPTB SPTBN1 SPTBN2 SPTBN4 SRC STAT1 SUMO2 SYN1 TAF1 TANC1 TES TSSC4 ZNF333
Entrez ID		1674	6709
HPRD ID		00514	01684
Ensembl ID		ENSG00000175084	ENSG00000197694
Uniprot IDs		P17661 Q53SB5	A0A384P5S9 Q13813
PDB IDs			2FOT 3F31 3FB2 5FW9 5FWB 5FWC 6ZEH
Enriched GO Terms of Interacting Partners?
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