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]

Description

Spectrin alpha, non-erythrocytic 1

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Microtubules

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (128552558 - 128633662)

Ensembl ID

ENSG00000197694  (ver. 103.38)

Orthologs

Mouse Sptan1: ENSMUSG00000057738

UniProt

Q13813

neXtProt

NX_Q13813

Human splice variants
Mouse splice variants

Protein structure