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Ask your administrator if you think this is wrong. ======= SPTAN1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: SPTAN1 * **<color #00a2e8>Official Name</color>**: spectrin alpha, non-erythrocytic 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6709|6709]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13813|Q13813]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SPTAN1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SPTAN1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/182810|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |SH3 1| |efhand| |efhand Ca insen| |SH3 2| |Spectrin| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |spectrin| |actin filament capping| |negative regulation of actin filament depolymerization| |regulation of actin filament depolymerization| |negative regulation of actin filament polymerization| |tertiary granule lumen| |extracellular vesicle| |negative regulation of protein depolymerization| |specific granule lumen| |negative regulation of protein polymerization| |negative regulation of protein complex disassembly| |regulation of protein depolymerization| |structural constituent of cytoskeleton| |regulation of protein complex disassembly| |negative regulation of supramolecular fiber organization| |negative regulation of protein complex assembly| |negative regulation of cytoskeleton organization| |microtubule cytoskeleton| |regulation of actin filament polymerization| |regulation of actin polymerization or depolymerization| |regulation of actin filament length| |calmodulin binding| |endoplasmic reticulum to Golgi vesicle-mediated transport| |regulation of protein polymerization| |axon guidance| |regulation of actin filament organization| |neuron projection guidance| |actin binding| |cadherin binding| |regulation of actin cytoskeleton organization| |regulation of supramolecular fiber organization| |MAPK cascade| |axonogenesis| |Golgi vesicle transport| |negative regulation of organelle organization| |regulation of cellular component size| |regulation of actin filament-based process| |signal transduction by protein phosphorylation| |axon development| |cell morphogenesis involved in neuron differentiation| |regulation of protein complex assembly| |neuron projection morphogenesis| |plasma membrane bounded cell projection morphogenesis| |neutrophil degranulation| |cell projection morphogenesis| |neutrophil activation involved in immune response| |neutrophil mediated immunity| |neutrophil activation| |granulocyte activation| |leukocyte degranulation| |regulation of anatomical structure size| |cell part morphogenesis| |myeloid leukocyte mediated immunity| |myeloid cell activation involved in immune response| |regulation of cytoskeleton organization| |chemotaxis| |taxis| |cell morphogenesis involved in differentiation| |myeloid leukocyte activation| |leukocyte activation involved in immune response| |cell activation involved in immune response| |neuron projection development| |intracellular membrane-bounded organelle| |regulated exocytosis| |negative regulation of cellular component organization| |calcium ion binding| |cell morphogenesis| |leukocyte mediated immunity| |exocytosis| |neuron development| |cellular component morphogenesis| |leukocyte activation| |regulation of cellular component biogenesis| |protein phosphorylation| |secretion by cell| |neuron differentiation| |export from cell| |cell activation| |immune effector process| |cytoskeleton organization| |plasma membrane bounded cell projection organization| |secretion| |cell projection organization| |phosphorylation| |regulation of organelle organization| |locomotion| |intracellular transport| |generation of neurons| |movement of cell or subcellular component| |neurogenesis| |cell development| |intracellular signal transduction| |establishment of localization in cell| |immune response| |extracellular region| |vesicle-mediated transport| |membrane| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp72|LB-100 4.1μM R02 exp72]]|-1.91| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:r:ruvbl2|RUVBL2]]|0.445| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 11840 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 9.7 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='SPTAN1 Expression in NALM6 Cells: 9.7'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1