SPTBN1

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene.

Spectrin Beta, 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. Plays a critical role in central nervous system development and function.

Biological Process actin cytoskeleton organizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process actin filament cappingIEA:UniProtKB-KW
Biological Process central nervous system developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process central nervous system formationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process common-partner SMAD protein phosphorylationIEA:Ensembl
Biological Process Golgi to plasma membrane protein transportManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process membrane assemblyManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process mitotic cytokinesisManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process plasma membrane organizationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process positive regulation of interleukin-2 productionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of protein localization to plasma membraneManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein localization to plasma membraneManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of protein localization to plasma membraneManual Assertion Based On ExperimentIGI:UniProtKB
Biological Process regulation of SMAD protein signal transductionIEA:Ensembl

Cytoplasm, cytoskeleton
Cytoplasm, myofibril, sarcomere, M line
Cytoplasm, cytosol
Cell membrane
Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes.
Isoform 2
Cell membrane

Developmental delay, impaired speech, and behavioral abnormalities (DDISBA):
An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss.