Protein: Q8WZ42

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
Q8WZ42 (Uniprot) TITIN_HUMAN TTN Titin human No
Uniprot: 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. more..
MoonDB Dissimilar Functions
GO ID 1 Function 1 Module ID 1 GO ID 2 Function 2 Module ID 2 Association Probability (PrOnto) Interaction Probability (PrOnto)
GO:0019538 protein metabolic process 306, 376 GO:0000377 RNA splicing, via transesterification reactions with bulged adenosine as nucleophile 467 1.88e-02 4.66e-37
Biological Processes
Module ID (MoonGO) GO ID (BP) GO Name
25 GO:0006464 cellular protein modification process
25 GO:0010467 gene expression
25 GO:0060255 regulation of macromolecule metabolic process
25 GO:0007165 signal transduction
77 GO:0007165 signal transduction
144 GO:0009059 macromolecule biosynthetic process
144 GO:0090304 nucleic acid metabolic process
189 GO:0090304 nucleic acid metabolic process
191 GO:0006355 regulation of transcription, DNA-templated
225 GO:0016070 RNA metabolic process
225 GO:0010467 gene expression
243 GO:0034645 cellular macromolecule biosynthetic process
243 GO:0044271 cellular nitrogen compound biosynthetic process
243 GO:0006464 cellular protein modification process
243 GO:0031325 positive regulation of cellular metabolic process
243 GO:0010604 positive regulation of macromolecule metabolic process
243 GO:0051173 positive regulation of nitrogen compound metabolic process
243 GO:0051252 regulation of RNA metabolic process
243 GO:0031326 regulation of cellular biosynthetic process
243 GO:0032268 regulation of cellular protein metabolic process
243 GO:0010468 regulation of gene expression
243 GO:0010556 regulation of macromolecule biosynthetic process
243 GO:0007165 signal transduction
267 GO:0044271 cellular nitrogen compound biosynthetic process
267 GO:0010467 gene expression
267 GO:0009059 macromolecule biosynthetic process
267 GO:0090304 nucleic acid metabolic process
267 GO:0019538 protein metabolic process
267 GO:0060255 regulation of macromolecule metabolic process
306 GO:0044267 cellular protein metabolic process
306 GO:0060255 regulation of macromolecule metabolic process
306 GO:0007165 signal transduction
337 GO:0022607 cellular component assembly
337 GO:0035556 intracellular signal transduction
337 GO:0006468 protein phosphorylation
337 GO:0060255 regulation of macromolecule metabolic process
376 GO:0044267 cellular protein metabolic process
376 GO:0007165 signal transduction
381 GO:0006464 cellular protein modification process
381 GO:0010467 gene expression
381 GO:0016310 phosphorylation
381 GO:0010604 positive regulation of macromolecule metabolic process
381 GO:0050790 regulation of catalytic activity
381 GO:0032268 regulation of cellular protein metabolic process
381 GO:0007165 signal transduction
458 GO:0006139 nucleobase-containing compound metabolic process
467 GO:0000398 mRNA splicing, via spliceosome
467 GO:0060255 regulation of macromolecule metabolic process
551 GO:0034645 cellular macromolecule biosynthetic process
551 GO:0090304 nucleic acid metabolic process
551 GO:0034654 nucleobase-containing compound biosynthetic process
551 GO:0010604 positive regulation of macromolecule metabolic process
551 GO:0051173 positive regulation of nitrogen compound metabolic process
557 GO:0034645 cellular macromolecule biosynthetic process
557 GO:0044265 cellular macromolecule catabolic process
557 GO:0044271 cellular nitrogen compound biosynthetic process
557 GO:0035556 intracellular signal transduction
557 GO:0016071 mRNA metabolic process
557 GO:0010629 negative regulation of gene expression
557 GO:0031325 positive regulation of cellular metabolic process
557 GO:0051247 positive regulation of protein metabolic process
557 GO:0051252 regulation of RNA metabolic process
557 GO:0009894 regulation of catabolic process
557 GO:0031326 regulation of cellular biosynthetic process
557 GO:0010556 regulation of macromolecule biosynthetic process
557 GO:0031399 regulation of protein modification process
558 GO:0010467 gene expression
619 GO:0010604 positive regulation of macromolecule metabolic process
619 GO:0006355 regulation of transcription, DNA-templated
619 GO:0007165 signal transduction
674 GO:0006464 cellular protein modification process
674 GO:0031324 negative regulation of cellular metabolic process
674 GO:0010605 negative regulation of macromolecule metabolic process
674 GO:0051172 negative regulation of nitrogen compound metabolic process
674 GO:0010604 positive regulation of macromolecule metabolic process
674 GO:2000112 regulation of cellular macromolecule biosynthetic process
674 GO:0010468 regulation of gene expression
674 GO:1903506 regulation of nucleic acid-templated transcription
674 GO:0007165 signal transduction
674 GO:0006351 transcription, DNA-templated
679 GO:0031325 positive regulation of cellular metabolic process
679 GO:0010604 positive regulation of macromolecule metabolic process
679 GO:0051173 positive regulation of nitrogen compound metabolic process
679 GO:0006357 regulation of transcription from RNA polymerase II promoter
679 GO:0007165 signal transduction
747 GO:0010467 gene expression
747 GO:0090304 nucleic acid metabolic process
750 GO:0048468 cell development
750 GO:0060255 regulation of macromolecule metabolic process
750 GO:0007165 signal transduction
775 GO:0044267 cellular protein metabolic process
775 GO:0010467 gene expression
775 GO:0006139 nucleobase-containing compound metabolic process
775 GO:0060255 regulation of macromolecule metabolic process
779 GO:0034645 cellular macromolecule biosynthetic process
779 GO:0090304 nucleic acid metabolic process
779 GO:0034654 nucleobase-containing compound biosynthetic process
779 GO:0060255 regulation of macromolecule metabolic process
824 GO:0044267 cellular protein metabolic process
824 GO:0010467 gene expression
824 GO:0007165 signal transduction
Cellular Components
Module ID (MoonGO) GO ID (CC) GO Name
25 GO:0005829 cytosol
25 GO:0005634 nucleus
30 GO:0005829 cytosol
30 GO:0043232 intracellular non-membrane-bounded organelle
77 GO:0070013 intracellular organelle lumen
77 GO:0005634 nucleus
144 GO:0043232 intracellular non-membrane-bounded organelle
144 GO:0031981 nuclear lumen
189 GO:0005634 nucleus
191 GO:0031981 nuclear lumen
213 GO:0005634 nucleus
225 GO:0031981 nuclear lumen
243 GO:0005829 cytosol
243 GO:0070013 intracellular organelle lumen
243 GO:0044428 nuclear part
267 GO:0005829 cytosol
267 GO:0070013 intracellular organelle lumen
267 GO:0005634 nucleus
306 GO:0070062 extracellular exosome
337 GO:0005829 cytosol
337 GO:0043232 intracellular non-membrane-bounded organelle
337 GO:0005634 nucleus
346 GO:0043232 intracellular non-membrane-bounded organelle
346 GO:0005634 nucleus
376 GO:0005829 cytosol
376 GO:0005634 nucleus
381 GO:0005829 cytosol
381 GO:0005634 nucleus
458 GO:0005634 nucleus
467 GO:0005654 nucleoplasm
551 GO:0005829 cytosol
551 GO:0005615 extracellular space
551 GO:0043232 intracellular non-membrane-bounded organelle
551 GO:0005654 nucleoplasm
551 GO:0031982 vesicle
557 GO:0005829 cytosol
557 GO:0044421 extracellular region part
557 GO:0005654 nucleoplasm
557 GO:0031982 vesicle
558 GO:0005634 nucleus
619 GO:0005829 cytosol
619 GO:0031981 nuclear lumen
674 GO:0005829 cytosol
674 GO:0043232 intracellular non-membrane-bounded organelle
674 GO:0005654 nucleoplasm
679 GO:0031981 nuclear lumen
747 GO:0070013 intracellular organelle lumen
747 GO:0005634 nucleus
750 GO:0005829 cytosol
750 GO:0043232 intracellular non-membrane-bounded organelle
750 GO:0005634 nucleus
750 GO:0005886 plasma membrane
775 GO:0005829 cytosol
775 GO:0005634 nucleus
779 GO:0043232 intracellular non-membrane-bounded organelle
779 GO:0070013 intracellular organelle lumen
779 GO:0044428 nuclear part
GO ID (BP) GO Name Evidence Code (GO EC)
GO:0002576 platelet degranulation TAS
GO:0003300 cardiac muscle hypertrophy IMP
GO:0006936 muscle contraction TAS
GO:0006941 striated muscle contraction TAS
GO:0007076 mitotic chromosome condensation IEP
GO:0010628 positive regulation of gene expression IMP
GO:0010737 protein kinase A signaling IMP
GO:0018108 peptidyl-tyrosine phosphorylation IEA
GO:0030049 muscle filament sliding TAS
GO:0030240 skeletal muscle thin filament assembly IMP
GO:0030241 skeletal muscle myosin thick filament assembly IMP
GO:0035995 detection of muscle stretch IDA
GO:0045214 sarcomere organization IMP
GO:0045859 regulation of protein kinase activity IMP
GO:0048739 cardiac muscle fiber development IMP
GO:0048769 sarcomerogenesis IMP
GO:0050714 positive regulation of protein secretion IMP
GO:0050790 regulation of catalytic activity IMP
GO:0051592 response to calcium ion IDA
GO:0055003 cardiac myofibril assembly IMP
GO:0055008 cardiac muscle tissue morphogenesis IMP
GO:0060048 cardiac muscle contraction IMP
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0000794 condensed nuclear chromosome IDA
GO:0005576 extracellular region TAS
GO:0005829 cytosol TAS
GO:0005859 muscle myosin complex IBA
GO:0030018 Z disc IDA
GO:0031430 M band IBA
GO:0031674 I band IDA
GO:0070062 extracellular exosome IDA
No pairs of PrOnto dissimilar CC GO terms found.
PMID Article Title
1582406 Towards a molecular understanding of titin.
7569978 Titins, giant proteins in charge of muscle ultrastructure and elasticity.
7613868 Tertiary structure of an immunoglobulin-like domain from the giant muscle protein titin: a new member of the I set.
7819249 Dissecting titin into its structural motifs: identification of an alpha helix near the N-terminus.
8351016 Titin antibodies in myasthenia gravis: identification of a major immunogenic region of titin.
8404852 Phosphorylation of KSF motifs in the C-terminal region of titin in differentiating myoblasts.
8937992 The central Z-disk region of titin is assembled from a novel repeat in variable copy numbers.
9645487 Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin.
9782056 The three-dimensional structure of a type I module from titin: a prototype of intracellular fibronectin type III domains.
9804419 Structural basis for activation of the titin kinase domain during myofibrillogenesis.
10051295 Familial dilated cardiomyopathy locus maps to chromosome 2q31.
10462489 Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
10850961 Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity.
11525170 Structural evidence for a possible role of reversible disulphide bridge formation in the elasticity of the muscle protein titin.
11717165 The complete gene sequence of titin, expression of an unusual ~700 kDa titin isoform and its interaction with obscurin identify a novel Z-line to I-band linking system.
11788824 Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
11846417 Titin mutations as the molecular basis for dilated cardiomyopathy.
12145747 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
12432079 Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2.
12444090 The hydrophilic domain of small ankyrin-1 interacts with the two N-terminal immunoglobulin domains of titin.
12482578 Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin.
12785098 Species variations in cDNA sequence and exon splicing patterns in the extensible I-band region of cardiac titin: relation to passive tension.
12891679 Tibial muscular dystrophy in a Belgian family.
14583192 The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules.
14676215 Association of the chaperone alphaB-crystallin with titin in heart muscle.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15802564 The kinase domain of titin controls muscle gene expression and protein turnover.
15815621 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15967462 MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination.
16407954 Palindromic assembly of the giant muscle protein titin in the sarcomeric Z-disk.
16410549 Nuclear titin interacts with A- and B-type lamins in vitro and in vivo.
16465475 Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.
16537787 Mechanical stress-strain sensors embedded in cardiac cytoskeleton: Z disk, titin, and associated structures.
17344846 Patterns of somatic mutation in human cancer genomes.
17444505 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
17974005 The full-ORF clone resource of the German cDNA consortium.
20634290 Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.
23033978 Diagnostic exome sequencing in persons with severe intellectual disability.
25173926 Novel alpha-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
OMIM ID Disease Name
600334 Tardive tibial muscular dystrophy
603689 Hereditary myopathy with early respiratory failure
604145 Cardiomyopathy, dilated 1G
608807 Limb-girdle muscular dystrophy 2J
611705 Salih myopathy
Domain Name Domain ID Source
I38344 I38344 PIR
I38346 I38346 PIR
Prot_kinase_dom IPR000719 InterPro
Ig_sub2 IPR003598 InterPro
Ig_sub IPR003599 InterPro
FN3_dom IPR003961 InterPro
PPAK_motif IPR004168 InterPro
Ig-like_dom IPR007110 InterPro
Tyr_kinase_AS IPR008266 InterPro
Kinase-like_dom_sf IPR011009 InterPro
Ig_I-set IPR013098 InterPro
Ig_V-set IPR013106 InterPro
Ig-like_fold IPR013783 InterPro
Titin_Z_rpt IPR015129 InterPro
FN3_sf IPR036116 InterPro
Ig-like_dom_sf IPR036179 InterPro
fn3 PF00041 Pfam
Pkinase PF00069 Pfam
PPAK PF02818 Pfam
I-set PF07679 Pfam
Titin_Z PF09042 Pfam
PROTEIN_KINASE_DOM PS50011 PROSITE
IG_LIKE PS50835 PROSITE
FN3 PS50853 PROSITE
FN3 SM00060 SMART
IGv SM00406 SMART
IGc2 SM00408 SMART
IG SM00409 SMART
SSF48726 SSF48726 SUPFAM
SSF49265 SSF49265 SUPFAM
SSF56112 SSF56112 SUPFAM
FN3 cd00063 CDD