Obscurin

OBSCN
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1V1C, 2CR6, 2DKU, 2DM7, 2E7B, 2EDF, 2EDH, 2EDL, 2EDQ, 2EDR, 2EDT, 2EDW, 2ENY, 2EO1, 2GQH, 2YZ8, 4C4K, 2MWC, 4RSV, 2N56
Identifiers
Aliases	OBSCN, ARHGEF30, UNC89, obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
External IDs	OMIM: 608616; MGI: 2681862; HomoloGene: 70869; GeneCards: OBSCN; OMA:OBSCN - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	228,378,876 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	59,029,996 bp
RNA expression pattern
	Top expressed in
	muscle of thigh; ; apex of heart; ; gastrocnemius muscle; ; Skeletal muscle tissue of rectus abdominis; ; right auricle of heart; ; left ventricle; ; body of tongue; ; biceps brachii; ; Skeletal muscle tissue of biceps brachii; ; right hemisphere of cerebellum;
	Top expressed in
	muscle of thigh; ; myocardium of ventricle; ; knee joint; ; skeletal muscle tissue; ; interventricular septum; ; triceps brachii muscle; ; quadriceps femoris muscle; ; temporal muscle; ; digastric muscle; ; extraocular muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	ankyrin binding; metal ion binding; nucleotide binding; protein kinase activity; transferase activity; protein serine/threonine kinase activity; kinase activity; structural constituent of muscle; calmodulin binding; ATP binding; titin binding; protein binding; guanyl-nucleotide exchange factor activity; phosphatidylinositol-4,5-bisphosphate binding; phosphatidylinositol-3,4,5-trisphosphate binding; phosphatidylinositol-5-phosphate binding; phosphatidylinositol-3-phosphate binding; phosphatidylinositol-3,4-bisphosphate binding; phosphatidylinositol-4-phosphate binding; lipid binding;
Cellular component	cytoplasm; myofibril; M band; Z discdkac; cytosol; nuclear body; nucleus; plasma membrane; membrane; sarcolemma;
Biological process	sarcomere organization; regulation of Rho protein signal transduction; multicellular organism development; positive regulation of apoptotic process; protein phosphorylation; protein localization to M-band; regulation of small GTPase mediated signal transduction; cell differentiation; phosphorylation; G protein-coupled receptor signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	84033
	380698
	ENSG00000154358
	ENSMUSG00000061462
	Q5VST9
	A2AAJ9
	NM_001098623; NM_001271223; NM_052843; NM_001386125
	NM_001171512; NM_199152
	NP_001092093; NP_001258152; NP_443075
	NP_001164983; NP_954603
	Wikidata
View/Edit Human	View/Edit Mouse

Obscurin is a protein that in humans is encoded by the OBSCN gene. Obscurin belongs to the family of giant sarcomeric signaling proteins that includes titin and nebulin. Obscurin is expressed in cardiac and skeletal muscle, and plays a role in the organization of myofibrils during sarcomere assembly. A mutation in the OBSCN gene has been associated with hypertrophic cardiomyopathy and altered obscurin protein properties have been associated with other muscle diseases.