SPTAN1

Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

Spectrin alpha chain, non-erythrocytic 1

Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.

Biological Process actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process actin filament cappingIEA:UniProtKB-KW

Cytoplasm, cytoskeleton
Cytoplasm, cell cortex
Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells.

Developmental and epileptic encephalopathy 5 (DEE5):
A disorder characterized by seizures associated with hypsarrhythmia, profound intellectual disability with lack of visual attention and speech development, as well as spastic quadriplegia.

Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro.