OBSCN

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 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 belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Description

Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Tissue specificity

Tissue enriched (skeletal muscle)

Subcell location

Plasma membrane, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

1 (228208044 - 228378876)

Ensembl ID

ENSG00000154358  (ver. 103.38)

Orthologs

Mouse Obscn: ENSMUSG00000061462

UniProt

Q5VST9

neXtProt

NX_Q5VST9

Human splice variants
Mouse splice variants

Protein structure