InnateDB Protein
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IDBP-387848.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TTN
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Protein Name
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titin
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Synonyms
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CMD1G; CMH9; CMPD4; EOMFC; HMERF; LGMD2J; MYLK5; TMD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000405517
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InnateDB Gene
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IDBG-76091 (TTN)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm {ECO:0000305PubMed:16410549}. Nucleus {ECO:0000269PubMed:16410549}.
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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.
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
70
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
4 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR015129
Titin Z
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PFAM |
PF09042
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8WZ42
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PhosphoSite |
PhosphoSite-Q8WZ42
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
7273
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UniGene |
Hs.738948
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RefSeq |
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HUGO |
HGNC:12403
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OMIM |
188840
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CCDS |
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HPRD |
01787
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IMGT |
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EMBL |
AC009948
AC010680
AC023270
AF058332
AF525413
AJ277892
AJ277893
AL713647
BC013396
BC058824
BC070170
BC107797
DQ248309
FJ695199
X64697
X64698
X64699
X69490
X83270
X90568
X90569
X98114
X98115
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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
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