Aliases for SPTBN1 Gene
External Ids for SPTBN1 Gene
Previous GeneCards Identifiers for SPTBN1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for SPTBN1 Gene
SPTBN1 (Spectrin Beta, Non-Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTBN1 include Neurofibromatosis, Type 2 and Beckwith-Wiedemann Syndrome. Among its related pathways are RET signaling and Transport to the Golgi and subsequent modification. GO annotations related to this gene include poly(A) RNA binding and protein complex binding. An important paralog of this gene is SPTBN2.
UniProtKB/Swiss-Prot for SPTBN1 Gene
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.