SPTBN1

Spectrin beta chain, brain 1 is a protein that in humans is encoded by the SPTBN1 gene.^[5]

SPTBN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1AA2, 1BKR, 3EDV
Identifiers
Aliases	SPTBN1, ELF, HEL102, SPTB2, betaSpII, spectrin beta, non-erythrocytic 1, DDISBA
External IDs	OMIM: 182790; MGI: 98388; HomoloGene: 2354; GeneCards: SPTBN1; OMA:SPTBN1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p16.2 Start 54,456,317 bp[1] End 54,671,446 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 A3.3|11 17.44 cM Start 30,049,395 bp[2] End 30,218,175 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell trigeminal ganglion skin of hip lateral nuclear group of thalamus pars compacta external globus pallidus synovial joint dorsal motor nucleus of vagus nerve superior vestibular nucleus pars reticulata Top expressed in right lung right lung lobe facial motor nucleus carotid body left lung iris endothelial cell of lymphatic vessel vestibular membrane of cochlear duct anterior horn of spinal cord gastrula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calmodulin binding structural constituent of cytoskeleton protein binding ankyrin binding GTPase binding actin binding phospholipid binding protein-containing complex binding RNA binding cadherin binding Cellular component cytoplasm M band cytosol spectrin membrane cortical cytoskeleton plasma membrane cuticular plate nucleolus axolemma spectrin-associated cytoskeleton extracellular exosome cytoskeleton nucleus postsynaptic density protein-containing complex postsynapse glutamatergic synapse Biological process common-partner SMAD protein phosphorylation mitotic cytokinesis MAPK cascade axon guidance endoplasmic reticulum to Golgi vesicle-mediated transport positive regulation of protein localization to plasma membrane actin filament capping plasma membrane organization membrane assembly regulation of protein localization to plasma membrane Golgi to plasma membrane protein transport cytoskeleton organization protein localization to plasma membrane regulation of molecular function regulation of SMAD protein signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6711 20742 Ensembl ENSG00000115306 ENSMUSG00000020315 UniProt Q01082 Q62261 RefSeq (mRNA) NM_003128 NM_178313 NM_009260 NM_175836 RefSeq (protein) NP_003119 NP_842565 NP_033286 NP_787030 Location (UCSC) Chr 2: 54.46 – 54.67 Mb Chr 11: 30.05 – 30.22 Mb PubMed search [3] [4]
Wikidata
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Function

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 that are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene.^[5]

Interactions

SPTBN1 has been shown to interact with Merlin.^[6]