Recombinant Human Titin(TTN),partial

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Code CSB-EP025267HU
Size US$2062
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity Greater than 85% as determined by SDS-PAGE.
Target Names TTN
Uniprot No. Q8WZ42
Research Area Epigenetics and Nuclear Signaling
Alternative Names MPRM; Cardiomyopathy dilated 1G (autosomal dominant); CMD1G; CMH 9; CMH9; CMPD 4; CMPD4; Connectin; DKFZp451N061; EOMFC; FLJ26020; FLJ26409; FLJ32040; FLJ34413; FLJ39564; FLJ43066; HMERF; LGMD2J; MU RMS 40.14; MYLK5; Rhabdomyosarcoma antigen; Rhabdomyosarcoma antigen MU RMS 40.14; Rhabdomyosarcoma antigen MU-RMS-40.14; Titin; TITIN_HUMAN; TMD; TTN
Species Homo sapiens (Human)
Source E.coli
Expression Region 14257-14543aa
Target Protein Sequence RCEEGKDNWIRCNMKLVPELTYKVTGLEKGNKYLYRVSAENKAGVSDPSEILGPLTADDAFVEPTMDLSAFKDGLEVIVPNPITILVPSTGYPRPTATWCFGDKVLETGDRVKMKTLSAYAELVISPSERSDKGIYTLKLENRVKTISGEIDVNVIARPSAPKELKFGDITKDSVHLTWEPPDDDGGSPLTGYVVEKREVSRKTWTKVMDFVTDLEFTVPDLVQGKEYLFKVCARNKCGPGEPAYVDEPVNMSTPATVPDPPENVKWRDRTANSIFLTWDPPKNDGG
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 36.9 kDa
Protein Length Partial
Tag Info N-terminal 10xHis-tagged and C-terminal Myc-tagged
Form Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time 3-7 business days
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA Please contact us to get it.

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Target Background

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.
Gene References into Functions
  1. Among the 120 dilated cardiomyopathy patients, 20 (16.7%) had TTN truncating variants. PMID: 29386531
  2. In a case-control study, there was a statistically significant association between an LOF variant in the TTN gene and early-onset AF, with the variant present in a small percentage of participants with early-onset AF (the case group). PMID: 30535219
  3. novel titin gene-truncating mutation NM_001267550: p.Leu23499fs/c.70497_40498insT found in the proband as well as in her mother in woman with peripartum cardiomyopathy PMID: 29997384
  4. Titin isoform expression differs in aortic stenosis and aortic regurgitation as adaptive response to different pathophysiologic scenarios. PMID: 29472025
  5. TTN missense variants were commonly identified in arrhythmogenic cardiomyopathy patients in this cohort, but did not appear to play a primary role in ACM as causative variants. PMID: 29750433
  6. This is the first study to suggest the involvement of the novel missense CACNA1C c.1786G>A and TTN c.49415G>A variants in the inheritance of symptomatic bradycardia and development of sick sinus syndrome. PMID: 29568937
  7. We employed WES to detect the mutations of DCM patients and identified 2 novel mutations. Our study expands the spectrum of TTN mutations and offers accurate genetic testing information for DCM patients who are still clinically negative. PMID: 27544385
  8. urinary concentration of titin correlated significantly with serum creatine kinase concentration, the best-known biomarker of Duchenne muscular dystrophy; the N-terminal fragment of titin in urine has potential as a diagnostic and clinical biomarker for DMD PMID: 29175173
  9. we considered titin fragments as promising candidates for reliable and non-invasive biomarkers of muscle injury. PMID: 27991570
  10. TTN plays a role in regulation of cardiac electrical conductance and coupling, and is a risk factor for cardiac arrhythmias and sudden cardiac death PMID: 27321809
  11. The T-allele at rs10497520 in the TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in habitually trained men. PMID: 28581678
  12. An overview of the different neuromuscular disorders caused by mutations in the TTN gene, reviewing the molecular findings as well as the clinical data (review). PMID: 27854229
  13. This review considers data on structural and functional features of titin, on the role of this protein in determination of mechanical properties of sarcomeres, and on specific features of regulation of the stiffness and elasticity of its molecules, and possible amyloid aggregation of this protein PMID: 29523065
  14. Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. PMID: 26392295
  15. Study found that there is a missense mutation in the TTN gene, c.100126A > G (p.Thr33376Ala), in a family whose members suffer from familial dilated cardiomyopathy. TTN is closely related to dilated cardiomyopathy and is an important causative gene of familial dilated cardiomyopathy. PMID: 29109008
  16. Truncating titin mutations cause a mild and treatable form of dilated cardiomyopathy. PMID: 27813223
  17. Activation of titin protein represents an initial step forward adaptive remodelling of the exercised muscle and may also be involved in the initiation of myofibre repair. PMID: 28712031
  18. Novel A178D missense mutation in titin is a cause of a highly penetrant familial cardiomyopathy with features of left ventricular noncompaction. PMID: 27625337
  19. Quantitative models derived from large-scale human genetic and phenotypic data can be applied to truncating mutations in titin in dilated cardiomyopathy. PMID: 27625338
  20. Variants near TTN and CCDC8 were associated with KI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in hepatitis B-related hepatocellular carcinoma patients. PMID: 28700999
  21. Recent studies classify pathogenic variants in the TTN gene as the main responsible for Familial Dilated Cardiomyopathy. PMID: 27736720
  22. TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death. PMID: 28822653
  23. Heterozygous loss of RBM20 suffices to profoundly impair myocyte biomechanics by its disturbance of TTN splicing causing dilated cardiomyopathy. PMID: 27496873
  24. Study identified a probable association between variation in TTN gene and patients with sudden unexpected death syndrome. PMID: 28704380
  25. We report that missense variant in the A-band of TTN gene is the strongest candidate mutation for autosomal-dominant inguinal hernia with incomplete penetrance. PMID: 27115767
  26. Titin-truncating variant is associated with dilated cardiomyopathy. PMID: 27869827
  27. Data suggest that disulfide bonds can alter mechanical stability of proteins in different ways depending on properties of system. Disulfide-bonded E coli FimG (minor component of type 1 fimbriae) undergoes a 30% increase in its mechanical stability compared with its reduced counterpart. Unfolding force of human titan I91 domain exhibits decrease of 15% relative to the wild-type form. PMID: 28642368
  28. TTN truncating variants were observed in nearly one fourth of young dilated cardiomyopathy patient population, in vast majority without conduction system disease. PMID: 28045975
  29. detected an Linkage Disequilibrium block associated with a rapid functional decline in patients with sporadic ALS, which is linked to decreased expression of TTN. PMID: 26746183
  30. An estimated probability of pathogenicity of TTN truncating mutations affecting all transcripts of TTN, identified in unselected dilated cardiomyopathy patients is 97.8%. PMID: 26777568
  31. TTN variant segregated with hypertrophic cardiomyopathy in affected members of the family. PMID: 28223422
  32. A distinct phenotype for patients with distal myopathy is associated with novel recessive TTN variants including a Serbian founder variant. PMID: 28295036
  33. Results show that the titin I27Y9P variant has similar mechanical stability as the wildtype. PMID: 27021163
  34. Phosphorylating Titin's Cardiac N2B Element by ERK2 or CaMKIIdelta Lowers the Single Molecule and Cardiac Muscle Force PMID: 26682816
  35. Suggest a potential biological role for some TTN missense variants in dilated cardiomyopathy. PMID: 26567375
  36. Data suggest that titin functions as an integrated protein chain where functionalities emerge from the joint action of titan and other sarcomere/A-band components (such as TCAP); titin exhibits tertiary elasticity and molecular shape memory. [REVIEW] PMID: 26517893
  37. a large number of VUS in the TTN gene were identified from a cohort of samples from patients suffering cardiac diseases associated with sudden cardiac death. PMID: 26516846
  38. TTN mutations have been strongly associated with four cardiomyopathies: Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy and Restrictive cardiomyopathy. PMID: 26024954
  39. The distribution of truncating variants in a large series of women with peripartum cardiomyopathy was remarkably similar to that found in patients with idiopathic dilated cardiomyopathy. PMID: 26735901
  40. Cleavage of C-terminal titin by CAPN3 is associated with limb-girdle muscular dystrophy 2A and tibial muscular dystrophy. PMID: 25877298
  41. findings indicate that titin mutations cause dilated cardiomyopathy by disrupting critical linkages between sarcomerogenesis and adaptive remodeling PMID: 26315439
  42. Engineered all four of the naturally occurring human M10 (the extreme C-terminus of titin) missense mutants and biophysically characterized them in vitro. PMID: 25739468
  43. an increase in intracellular Ca(2+) concentration leads to Ca(2+) binding to the PEVK region of titin. PMID: 25421125
  44. An increase in the degree of titin phosphorylation results in increased proteolytic degradation of this protein, that contributes to the development of skeletal muscle atrophy. PMID: 26394485
  45. TTNtv is the most common genetic cause of dilated cardiomyopathy in ambulant patients PMID: 25589632
  46. MMP-2 degraded Titin fragment in serum is related to induction of skeletal muscle atrophy. PMID: 25077715
  47. individual subfragments of titin and myomesin composed of Fn type III and Ig-like domains can activate expression of two IGF-1 splice forms in cultured myoblasts PMID: 25152160
  48. Patients with hypertension and heart failure with preserved ejection fraction had an increase in S11878(S26), no change in S12022(S170) and a decrease in S4185(S469). There were no significant differences between HTN(-)HFpEF or controls at these 3 sites. PMID: 25637629
  49. Results suggest that mutation in TTN could be implicated in the pathogenesis of puerperal cardiomyopathies. PMID: 24558114
  50. this study presents here the X-ray structure of the human titin:obscurin M10:O1 complex extending our previous work on the M10:OL1 interaction. PMID: 25490259

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Involvement in disease Hereditary myopathy with early respiratory failure (HMERF); Cardiomyopathy, familial hypertrophic 9 (CMH9); Cardiomyopathy, dilated 1G (CMD1G); Tardive tibial muscular dystrophy (TMD); Limb-girdle muscular dystrophy 2J (LGMD2J); Salih myopathy (SALMY)
Subcellular Location Cytoplasm. Nucleus.
Protein Families Protein kinase superfamily, CAMK Ser/Thr protein kinase family
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).
Database Links

HGNC: 12403

OMIM: 188840

KEGG: hsa:7273

STRING: 9606.ENSP00000343764

UniGene: Hs.134602

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