Homo sapiens Protein: TTN | |||||||||||||||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-76093.7 | ||||||||||||||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||||||||||||||
Gene Symbol | TTN | ||||||||||||||||||||||||||||||||||||||||||||
Protein Name | titin | ||||||||||||||||||||||||||||||||||||||||||||
Synonyms | CMD1G; CMH9; CMPD4; EOMFC; HMERF; LGMD2J; MYLK5; TMD; | ||||||||||||||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000343764 | ||||||||||||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-76091 (TTN) | ||||||||||||||||||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||||||||||||||||||
Function | Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase. {ECO:0000269PubMed:9804419}. | ||||||||||||||||||||||||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000305PubMed:16410549}. Nucleus {ECO:0000269PubMed:16410549}. | ||||||||||||||||||||||||||||||||||||||||||||
Disease Associations | Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]: Autosomal dominant, adult-onset myopathy with early respiratory muscle involvement. {ECO:0000269PubMed:15802564}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, familial hypertrophic 9 (CMH9) [MIM:613765]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269PubMed:10462489}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:11788824, ECO:0000269PubMed:11846417, ECO:0000269PubMed:16465475}. Note=The disease is caused by mutations affecting the gene represented in this entry.Tardive tibial muscular dystrophy (TMD) [MIM:600334]: Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. {ECO:0000269PubMed:12145747, ECO:0000269PubMed:12891679}. Note=The disease is caused by mutations affecting the gene represented in this entry.Limb-girdle muscular dystrophy 2J (LGMD2J) [MIM:608807]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. Note=The disease is caused by mutations affecting the gene represented in this entry.Early-onset myopathy with fatal cardiomyopathy (EOMFC) [MIM:611705]: Early-onset myopathies are inherited muscle disorders that manifest typically from birth or infancy with hypotonia, muscle weakness, and delayed motor development. EOMFC is a titinopathy that, in contrast with the previously described examples, involves both heart and skeletal muscle, has a congenital onset, and is purely recessive. This phenotype is due to homozygous out-of-frame TTN deletions, which lead to a total absence of titin's C-terminal end from striated muscles and to secondary CAPN3 depletion. {ECO:0000269PubMed:17444505}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||||||||||||||||||||||
Tissue Specificity | Isoforms 3, 7 and 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in skeletal muscle (at protein level). {ECO:0000269PubMed:11717165, ECO:0000269PubMed:7819249}. | ||||||||||||||||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 70 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||||||||||||||
InterPro |
IPR000719
Protein kinase domain IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002035 von Willebrand factor, type A IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR003596 Immunoglobulin V-set, subgroup IPR003598 Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR003961 Fibronectin, type III IPR004168 PPAK motif IPR007110 Immunoglobulin-like domain IPR011009 Protein kinase-like domain IPR012337 Ribonuclease H-like domain IPR013098 Immunoglobulin I-set IPR013106 Immunoglobulin V-set domain IPR013151 Immunoglobulin IPR015129 Titin Z IPR020635 Tyrosine-protein kinase, catalytic domain IPR022682 Peptidase C2, calpain, large subunit, domain III IPR029058 Alpha/Beta hydrolase fold |
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PFAM |
PF00069
PF07714 PF00092 PF00041 PF01108 PF02818 PF07679 PF07686 PF00047 PF09042 PF01067 |
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PRINTS |
PR00109
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PIRSF | |||||||||||||||||||||||||||||||||||||||||||||
SMART |
SM00327
SM00220 SM00406 SM00408 SM00409 SM00060 SM00219 |
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TIGRFAMs | |||||||||||||||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||||||||||||
SwissProt | Q8WZ42 | ||||||||||||||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q8WZ42 | ||||||||||||||||||||||||||||||||||||||||||||
TrEMBL | C9JQJ2 | ||||||||||||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||||||||||||
Entrez Gene | 7273 | ||||||||||||||||||||||||||||||||||||||||||||
UniGene | Hs.738948 | ||||||||||||||||||||||||||||||||||||||||||||
RefSeq | NP_596869 | ||||||||||||||||||||||||||||||||||||||||||||
HUGO | HGNC:12403 | ||||||||||||||||||||||||||||||||||||||||||||
OMIM | 188840 | ||||||||||||||||||||||||||||||||||||||||||||
CCDS | CCDS54424 | ||||||||||||||||||||||||||||||||||||||||||||
HPRD | 01787 | ||||||||||||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||||||||||||
EMBL | AC009948 AC010680 AC023270 AF058332 AF525413 AJ277892 AJ277893 AL713647 BC013396 BC058824 BC070170 BC107797 DQ248309 FJ695199 X64697 X64698 X64699 X69490 X83270 X90568 X90569 X98114 X98115 | ||||||||||||||||||||||||||||||||||||||||||||
GenPept | AAD22603 AAD22604 AAH13396 AAH58824 AAH70170 AAI07798 AAP80791 AAX88844 ABB55264 CAA45938 CAA45939 CAA45940 CAA49245 CAA58243 CAA62188 CAA62189 CAA66795 CAA66796 CAD12455 CAD12456 CAD12457 CAD12458 CAD12459 CAD28458 | ||||||||||||||||||||||||||||||||||||||||||||