OBSCN Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | OBSCN |
| Official Name | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Source:HGNC Symbol;Acc:HGNC:15719] |
| Ensembl ID | ENSG00000154358 |
| Bio databases IDs | |
| Aliases | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
| Synonyms | ARHGEF30, BC046431, FLJ14124, Gm878, KIAA1639, LOC108352087, Obscnl, OBSCURIN, obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, RGD1305774, RHABDO1, UNC89 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human OBSCN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase
- Fibronectin type 3 domain
- Protein kinase domain
- T-cell surface glycoprotein CD3 delta chain
- Calmodulin-binding motif
- cytoskeletal protein binding
- ankyrin binding
- phosphatidylinositol-3,4,5-triphosphate binding
- phosphatidylinositol-4,5-bisphosphate binding
- Immunoglobulin like
- immunoglobulin-like protein domain
- PH domain
- cadherin binding
- Tyrosine kinase, catalytic domain
- Immunoglobulin V-set domain
- Protein kinase (unclassified specificity)
- MAPK-interacting and spindle-stabilising protein-like
- Protein tyrosine and serine/threonine kinase
- immunoglobulin domain
- Immunoglobulin I-set domain
- serine/threonine kinase domain
- protein binding
- Pleckstrin homology-like domain
- RhoGEF domain
- phosphatidylinositol binding
- Src Homology 3 domain superfamily
- kinase
- Serine/Threonine protein kinases, catalytic domain
- RhoGEF
- ankyrin binding domain
- binding protein
- Protein Kinases, catalytic domain
- CD19_double_Ig
- FN3
- guanyl-nucleotide exchange factor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- hereditary disorder
- susceptibility to rhabdomyolysis type 1
- autosomal recessive deafness type 120
- glioblastoma
- glioblastoma cancer
- androgenic alopecia
- infiltrating ductal breast carcinoma
role in cell
- expression in
- motility
- apoptosis
- cell viability
- invasion by
- epithelial-mesenchymal transition
- assembly
- structure
- organization
- colonization by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent-insoluble fractions
- Extracellular Space
- perinuclear region
- membrane surface
- Nucleus
- Plasma Membrane
- intercellular junctions
- sarcomere
- cytosol
- nuclear bodies
- m-bands
- intercalated disks
- sarcolemma
- Z line
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OBSCN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of small GTPase mediated signal transduction
- sarcomere organization
Cellular Component
Where in the cell the gene product is active
- Z disc
- nuclear body
- sarcolemma
- cytosol
- M band
- plasma membrane
- myofibril
Molecular Function
What the gene product does at the molecular level
- guanyl-nucleotide exchange factor activity
- protein serine/threonine kinase activity
- phosphatidylinositol-3,4-bisphosphate binding
- phosphatidylinositol-3,4,5-trisphosphate binding
- ATP binding
- phosphatidylinositol-4-phosphate binding
- phosphatidylinositol-4,5-bisphosphate binding
- calmodulin binding
- protein binding
- structural constituent of muscle
- ankyrin binding
- metal ion binding
- phosphatidylinositol-5-phosphate binding
- titin binding
- phosphatidylinositol-3-phosphate binding