Version 5.4
Homo sapiens Gene: TTN
Summary
InnateDB Gene IDBG-76091.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TTN
Gene Name titin
Synonyms CMD1G; CMH9; CMPD4; EOMFC; HMERF; LGMD2J; MYLK5; TMD
Species Homo sapiens
Ensembl Gene ENSG00000155657
Encoded Proteins
IDBP-76093
titin
IDBP-76095
titin
IDBP-76097
titin
IDBP-76107
titin
IDBP-387839
titin
IDBP-387841
titin
IDBP-387842
titin
IDBP-387845
titin
IDBP-387846
titin
IDBP-387848
titin
IDBP-387849
titin
IDBP-586507
titin
IDBP-755628
IDBP-755618
IDBP-812718
titin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:178525989-178830802
Strand Reverse strand
Band q31.2
Transcripts
ENST00000342992 ENSP00000343764
ENST00000342175 ENSP00000340554
ENST00000359218 ENSP00000352154
ENST00000360870 ENSP00000354117
ENST00000414766 ENSP00000401501
ENST00000426232 ENSP00000392336
ENST00000446966 ENSP00000408004
ENST00000425332 ENSP00000396805
ENST00000448510 ENSP00000399176
ENST00000436599 ENSP00000405517
ENST00000412264 ENSP00000394672
ENST00000460472 ENSP00000434586
ENST00000470257
ENST00000591111 ENSP00000465570
ENST00000589042 ENSP00000467141
ENST00000615779 ENSP00000483597
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.
Experimentally validated
Total 70 [view]
Protein-Protein 70 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0003676 nucleic acid binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005488 binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008307 structural constituent of muscle
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0030506 ankyrin binding
GO:0031433 telethonin binding
GO:0042802 identical protein binding
GO:0042805 actinin binding
GO:0043621 protein self-association
GO:0051015 actin filament binding
GO:0051371 muscle alpha-actinin binding
GO:0097493 structural molecule activity conferring elasticity
Biological Process
GO:0001701 in utero embryonic development
GO:0001756 somitogenesis
GO:0002576 platelet degranulation
GO:0003007 heart morphogenesis
GO:0003300 cardiac muscle hypertrophy
GO:0006468 protein phosphorylation
GO:0006936 muscle contraction
GO:0006941 striated muscle contraction
GO:0007076 mitotic chromosome condensation
GO:0007507 heart development
GO:0007512 adult heart development
GO:0007596 blood coagulation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0030049 muscle filament sliding
GO:0030168 platelet activation
GO:0030240 skeletal muscle thin filament assembly
GO:0030241 skeletal muscle myosin thick filament assembly
GO:0035995 detection of muscle stretch
GO:0043056 forward locomotion
GO:0045214 sarcomere organization
GO:0045859 regulation of protein kinase activity
GO:0048739 cardiac muscle fiber development
GO:0048769 sarcomerogenesis
GO:0050790 regulation of catalytic activity
GO:0051592 response to calcium ion
GO:0055002 striated muscle cell development
GO:0055003 cardiac myofibril assembly
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
GO:1901897 regulation of relaxation of cardiac muscle
Cellular Component
GO:0000794 condensed nuclear chromosome
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005865 striated muscle thin filament
GO:0030017 sarcomere
GO:0030018 Z disc
GO:0031430 M band
GO:0031672 A band
GO:0031674 I band
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000051747
View Gene Order
Pathways
NETPATH
REACTOME
REACT_318
Platelet degranulation pathway
REACT_1280
Response to elevated platelet cytosolic Ca2+ pathway
REACT_16969
Striated Muscle Contraction pathway
REACT_798
Platelet activation, signaling and aggregation pathway
REACT_17044
Muscle contraction pathway
REACT_604
Hemostasis pathway
KEGG
hsa05410
Hypertrophic cardiomyopathy (HCM) pathway
hsa05414
Dilated cardiomyopathy pathway
INOH
PID NCI
Cross-References
SwissProt Q8WZ42
TrEMBL C9JQJ2
UniProt Splice Variant
Entrez Gene 7273
UniGene Hs.134602 Hs.609542 Hs.736412 Hs.736806 Hs.738948
RefSeq NM_133432 NM_001256850 NM_001267550 NM_003319 NM_133378 NM_133379 NM_133437 XM_005246831 XM_006712725
HUGO HGNC:12403
OMIM 188840
CCDS CCDS54423 CCDS33337 CCDS54421 CCDS54422 CCDS54424 CCDS59435 CCDS74610
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
RNA Seq Atlas 7273

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca