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Ask your administrator if you think this is wrong. ======= SNTA1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: SNTA1 * **<color #00a2e8>Official Name</color>**: syntrophin alpha 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6640|6640]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13424|Q13424]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SNTA1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SNTA1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601017|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]. * **<color #00a2e8>UniProt Summary</color>**: Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity). {ECO:0000250}. <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'> |PDZ| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |syntrophin complex| |negative regulation of peptidyl-cysteine S-nitrosylation| |regulation of peptidyl-cysteine S-nitrosylation| |nitric-oxide synthase binding| |dystrophin-associated glycoprotein complex| |ventricular cardiac muscle cell action potential| |regulation of ventricular cardiac muscle cell membrane repolarization| |regulation of cardiac muscle cell membrane repolarization| |sodium channel regulator activity| |regulation of membrane repolarization| |cardiac muscle cell action potential involved in contraction| |cardiac muscle cell contraction| |cardiac muscle cell action potential| |lateral plasma membrane| |regulation of sodium ion transmembrane transport| |neuromuscular junction| |cardiac muscle contraction| |ATPase binding| |heart contraction| |regulation of sodium ion transport| |intracellular| |PDZ domain binding| |actin-mediated cell contraction| |action potential| |regulation of heart rate| |sarcolemma| |heart process| |striated muscle contraction| |actin filament-based movement| |ion channel binding| |structural molecule activity| |calmodulin binding| |regulation of heart contraction| |muscle contraction| |synapse| |actin binding| |regulation of blood circulation| |muscle system process| |regulation of cation transmembrane transport| |cytoskeleton| |regulation of metal ion transport| |blood circulation| |circulatory system process| |regulation of membrane potential| |regulation of ion transmembrane transport| |cell junction| |regulation of transmembrane transport| |actin filament-based process| |regulation of system process| |negative regulation of protein modification process| |protein-containing complex| |regulation of ion transport| |negative regulation of cellular protein metabolic process| |negative regulation of protein metabolic process| |movement of cell or subcellular component| |regulation of protein modification process| |regulation of transport| |system process| </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:exp436|Dynasore 7μM R08 exp436]]|-1.84| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:r:rrm1|RRM1]]|0.563| </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>**: 11853 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.71 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='SNTA1 Expression in NALM6 Cells: 2.71'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1