SPTAN1 - spectrin alpha, non-erythrocytic 1 (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-01-29
Description
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]
Enables cadherin binding activity. Predicted to be involved in actin cytoskeleton organization. Located in intracellular membrane-bounded organelle and microtubule cytoskeleton. Implicated in autosomal dominant distal hereditary motor neuronopathy 11 and developmental and epileptic encephalopathy 5.
- DEE5
- DEVEP
- EIEE5
- HMN11
- HMND11
- NEAS
- SPG91
- SPTA2
- spectrin alpha chain, non-erythrocytic 1
- alpha-II spectrin
- alpha-fodrin
- epididymis secretory sperm binding protein
- fodrin alpha chain
- spectrin, non-erythroid alpha chain
- spectrin, non-erythroid alpha subunit
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.
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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