| Gene Symbol |
TTN
|
| Entrez Gene |
7273
|
| Alt Symbol |
CMD1G, CMH9, CMPD4, EOMFC, HMERF, LGMD2J, MYLK5, TMD
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
titin
|
| Other Description |
connectin|rhabdomyosarcoma antigen MU-RMS-40.14
|
| Swissprots |
Q7KYN5 Q6PDB1 Q92761 E7EQE6 Q92762 A6NKB1 Q9Y6L9 Q8WZ52 Q7Z2X3 Q7LDM3 Q7KYN4 K7ENY1 Q8TCG8 Q10465 Q15598 E7ET18 Q8WZ42 Q4U1Z6 Q2XUS3 Q9UD97 Q4ZG20 Q6PJP0 Q9UP84 Q8WZ51 Q10466 Q8WZB3 Q32Q60 Q8WZ53 Q6NSG0 Q7KYM2
|
| Accessions |
AAD22603 AAD22604 AAX88844 ACN81321 CAA45940 CAD12455 CAD12456 CAD12457 CAD12458 CAD12459 CAD12460 EAX11013 EAX11014 EAX11015 EAX11016 EAX11017 EAX11018 EAX11019 Q8WZ42 AF321609 AAT09768 AF525413 AAP80791 AK056602 AK091732 AK092284 BAC03850 AK096883 AK125056 AK129531 AK129919 AL713647 CAD28458 AL832094 AL832351 AL833110 AL833292 BC013396 AAH13396 BC017983 BC026297 BC029400 BC030823 BC058824 AAH58824 BC070170 AAH70170 BC107797 AAI07798 BX537998 CAD97954 DQ248309 ABB55264 EF212153 ABN05229 EF212154 ABN05230 EF212155 ABN05231 EF212156 ABN05232 EU428784 ACA00206 JX424570 AGL91770 X64697 CAA45938 X64698 CAA45939 X69490 CAA49245 X83270 CAA58243 X90568 CAA62188 X90569 CAA62189 X98114 CAA66795 X98115 CAA66796 XM_011511729 XP_011510031 XM_011511730 XP_011510032 XM_011511731 XP_011510033 XM_011511732 XP_011510034 NM_001256850 NP_001243779 NM_001267550 NP_001254479 NM_003319 NP_003310 NM_133378 NP_596869 NM_133379 NP_596870 NM_133432 NP_597676 NM_133437 NP_597681
|
| 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:0000269|PubMed:9804419}.
|
| Subcellular Location |
Cytoplasm {ECO:0000305|PubMed:16410549}. Nucleus {ECO:0000269|PubMed:16410549}.
|
| 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:0000269|PubMed:11717165, ECO:0000269|PubMed:7819249}.
|
| Top Pathways |
Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy
|