SPTBN1

SPTBN1

Identifiers Symbols SPTBN1; ELF; SPTB2; betaSpII External IDs OMIM: 182790 MGI: 98388 HomoloGene: 2354 GeneCards: SPTBN1 Gene

Gene Ontology
Molecular function	• actin binding • structural constituent of cytoskeleton • protein binding • calmodulin binding • phospholipid binding • ankyrin binding
Cellular component	• nucleolus • cytoplasm • cytosol • spectrin • spectrin-associated cytoskeleton • axolemma • M band • cuticular plate
Biological process	• cytokinesis after mitosis • plasma membrane organization • common-partner SMAD protein phosphorylation • SMAD protein import into nucleus • axon guidance • Golgi to plasma membrane protein transport • actin filament capping • membrane assembly • protein targeting to plasma membrane
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 6711 20742 Ensembl ENSG00000115306 ENSMUSG00000020315 UniProt Q01082 Q62261 RefSeq (mRNA) NM_003128 NM_009260 RefSeq (protein) NP_003119 NP_033286 Location (UCSC) Chr 2:
54.68 – 54.9 Mb Chr 11:
30.1 – 30.27 Mb PubMed search

Spectrin beta chain, brain 1 is a protein that in humans is encoded by the 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.