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Ask your administrator if you think this is wrong. ======= TTN ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: TTN * **<color #00a2e8>Official Name</color>**: titin * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=7273|7273]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8WZ42|Q8WZ42]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TTN&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TTN|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/188840|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]. * **<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'> |Titin Z| |I-set| |ig| |PPAK| |Pkinase Tyr| |fn3| |V-set| |Pkinase| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |structural molecule activity conferring elasticity| |sarcomerogenesis| |detection of muscle stretch| |telethonin binding| |skeletal muscle myosin thick filament assembly| |striated muscle myosin thick filament assembly| |myosin filament assembly| |myosin filament organization| |actinin binding| |protein kinase A signaling| |skeletal muscle thin filament assembly| |skeletal myofibril assembly| |cardiac muscle fiber development| |mitotic chromosome condensation| |response to muscle stretch| |striated muscle thin filament| |I band| |muscle alpha-actinin binding| |cardiac myofibril assembly| |M band| |cardiac muscle hypertrophy| |condensed nuclear chromosome| |striated muscle hypertrophy| |muscle hypertrophy| |muscle filament sliding| |actin-myosin filament sliding| |chromosome condensation| |detection of mechanical stimulus| |structural constituent of muscle| |sarcomere organization| |sarcomere| |protein self-association| |muscle fiber development| |cardiac muscle cell development| |cardiac cell development| |myofibril assembly| |cardiac muscle tissue morphogenesis| |cardiac muscle contraction| |muscle tissue morphogenesis| |muscle organ morphogenesis| |heart contraction| |cardiac muscle cell differentiation| |protein tyrosine kinase activity| |actin-mediated cell contraction| |heart process| |protease binding| |cellular component assembly involved in morphogenesis| |striated muscle contraction| |mitotic sister chromatid segregation| |actin filament-based movement| |actomyosin structure organization| |cardiocyte differentiation| |detection of external stimulus| |detection of abiotic stimulus| |platelet degranulation| |Z disc| |striated muscle cell development| |sister chromatid segregation| |peptidyl-tyrosine phosphorylation| |mitotic nuclear division| |peptidyl-tyrosine modification| |muscle cell development| |response to calcium ion| |cardiac muscle tissue development| |DNA packaging| |striated muscle cell differentiation| |calmodulin binding| |actin filament binding| |response to mechanical stimulus| |nuclear chromosome segregation| |actin filament organization| |muscle cell differentiation| |muscle contraction| |heart morphogenesis| |positive regulation of protein secretion| |chromosome segregation| |striated muscle tissue development| |nuclear division| |positive regulation of peptide secretion| |muscle organ development| |muscle tissue development| |DNA conformation change| |muscle system process| |organelle fission| |enzyme binding| |protein serine/threonine kinase activity| |response to metal ion| |blood circulation| |circulatory system process| |positive regulation of secretion by cell| |positive regulation of protein transport| |positive regulation of secretion| |supramolecular fiber organization| |positive regulation of establishment of protein localization| |protein kinase binding| |regulation of protein secretion| |muscle structure development| |actin cytoskeleton organization| |regulation of peptide secretion| |heart development| |response to inorganic substance| |tissue morphogenesis| |actin filament-based process| |mitotic cell cycle process| |mitotic cell cycle| |detection of stimulus| |regulated exocytosis| |regulation of protein transport| |calcium ion binding| |regulation of peptide transport| |regulation of establishment of protein localization| |regulation of secretion by cell| |organelle assembly| |exocytosis| |regulation of protein kinase activity| |regulation of secretion| |cellular component morphogenesis| |cellular protein-containing complex assembly| |circulatory system development| |regulation of kinase activity| |peptidyl-amino acid modification| |anatomical structure formation involved in morphogenesis| |animal organ morphogenesis| |protein phosphorylation| |regulation of transferase activity| |positive regulation of transport| |cell cycle process| |secretion by cell| |regulation of protein localization| |export from cell| |chromosome organization| |identical protein binding| |cytoskeleton organization| |secretion| |response to abiotic stimulus| |phosphorylation| |cell cycle| |regulation of protein phosphorylation| |ATP binding| |movement of cell or subcellular component| |protein-containing complex assembly| |regulation of phosphorylation| |cell development| |intracellular signal transduction| |tissue development| |regulation of phosphate metabolic process| |regulation of phosphorus metabolic process| |regulation of protein modification process| |protein-containing complex subunit organization| |regulation of transport| |extracellular region| |vesicle-mediated transport| |system process| |positive regulation of gene expression| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' 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:exp409|THZ531 0.11μM R07 exp409]]|1.89| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </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>**: 9857 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 8.61 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='TTN Expression in NALM6 Cells: 8.61'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:37by 127.0.0.1