Obscn - obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Gene

Mus musculus

Also known as Gm878; UNC89

Gene ID: 380698 | Gene type: protein coding

About Obscn

Summary

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 800 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein is one of three giant sacromeric signaling proteins that includes titin and nebulin. It may have a role in the organization of myofibrils during assembly and also may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been described although the full-length nature is not known for all splicing variants. [provided by RefSeq, Jan 2010]

Obscn Products(2)

mRNA	Protein	Name
NM_001171512.2	NP_001164983.2	obscurin isoform 1
NM_199152.3	NP_954603.3	obscurin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cadherin binding	IPI IPI: Inferred from physical interaction	23392350	MGI
enables phosphatidylinositol bisphosphate binding	IDA IDA: Inferred from direct assay	28826662	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	23392350	MGI
enables protein kinase activity	IDA IDA: Inferred from direct assay	23392350	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	28826662	MGI
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	23392350	MGI
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	23392350	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in M band	IDA IDA: Inferred from direct assay	18782775	MGI
located in Z disc	IDA IDA: Inferred from direct assay	23392350	MGI
located in extracellular space	IDA IDA: Inferred from direct assay	23392350	MGI
located in intercalated disc	IDA IDA: Inferred from direct assay	23392350	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	28826662	MGI
located in sarcolemma	IDA IDA: Inferred from direct assay	23392350	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

obscurin

obscurin-MLCK	obscurin-RhoGEF
obscurin-myosin light chain kinase

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09736	OBSCN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Obscn	NCBI	NCBI:84033

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