Alpha II Spectrin (SPTAN1) Antibody – Mouse Monoclonal

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]

Function: 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.

Subunit structure: Like erythrocyte spectrin, the spectrin-like proteins are capable of forming dimers which can further associate to tetramers. Interacts (via C-terminal spectrin repeats) with TRPC4. Interacts with CALM and EMD. Interacts with isoform 1 of ACP1. Identified in a complex with ACTN4, CASK, IQGAP1, MAGI2, NPHS1 and SPTBN1. Interacts with SHANK3 (via ANK repeats). Ref.14 Ref.15 Ref.17

Subcellular location: Cytoplasm › cytoskeleton. Cytoplasm › cell cortex. Note: Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells

By similarity.

Post-translational modification: Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro

By similarity.

Involvement in disease: Epileptic encephalopathy, early infantile, 5 (EIEE5) [MIM:613477]: A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.28

Sequence similarities: Belongs to the spectrin family.Contains 3 EF-hand domains.Contains 1 SH3 domain.Contains 23 spectrin repeats.

Sequence caution: The sequence BAD93097.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.