Reactome | UniProt:Q8WZ42 TTN

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UniProt:Q8WZ42 TTN Show undefined attributes

chain	chain:1-34350
checksum	DEB216410AD560D9
comment	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.CATALYTIC ACTIVITY L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+)CATALYTIC ACTIVITY L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+)COFACTOR Full activation of the protein kinase domain requires both phosphorylation of Tyr-32341, preventing it from blocking the catalytic aspartate residue, and binding of Ca/CALM to the C-terminal regulatory tail of the molecule which results in ATP binding to the kinase.SUBUNIT Interacts with MYOM1, MYOM2, tropomyosin and myosin. Interacts with actin, primarily via the PEVK domains and with MYPN (By similarity). Interacts with FHL2, NEB, CRYAB, LMNA/lamin-A and LMNB/lamin-B. Interacts with TCAP/telethonin and/or ANK1 isoform Mu17/ank1.5, via the first two N-terminal immunoglobulin domains. Interacts with TRIM63 and TRIM55, through several domains including immunoglobulin domains 141 and 142. Interacts with ANKRD1, ANKRD2 and ANKRD23, via the region between immunoglobulin domains 77 and 78 and interacts with CAPN3, via immunoglobulin domain 79. Interacts with NBR1 through the protein kinase domain. Interacts with CALM/calmodulin. Isoform 6 interacts with OBSCN isoform 3. Interacts with CMYA5.INTERACTION A number of isoforms may be produced, ranging from 27000 to 33000 residues in different striated muscle tissues, the size of the full-length protein may be up to 38138 residues.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).DOMAIN ZIS1 and ZIS5 regions contain multiple SPXR consensus sites for ERK- and CDK-like protein kinases as well as multiple SP motifs. ZIS1 could adopt a closed conformation which would block the TCAP-binding site.DOMAIN The PEVK region may serve as an entropic spring of a chain of structural folds and may also be an interaction site to other myofilament proteins to form interfilament connectivity in the sarcomere.PTM Autophosphorylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS In some isoforms, after the PEVK repeat region there is a long PEVK duplicated region. On account of this region, it has been very difficult to sequence the whole protein. The length of this region (ranging from 183 to 2174 residues), may be a key elastic element of titin.SIMILARITY Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.SEQUENCE CAUTION Contaminating sequence. Potential poly-A sequence starting in position 553.SEQUENCE CAUTION Contaminating sequence. Potential poly-A sequence starting in position 627.SEQUENCE CAUTION Titin entry
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:12167457] PDB:3B43 [DatabaseIdentifier:12316620] RefSeq:NP_001243779.1 [DatabaseIdentifier:12316618] RefSeq:NP_001254479.2 [DatabaseIdentifier:12316621] RefSeq:NP_596870.2 [DatabaseIdentifier:12316619] RefSeq:NP_003310.4 [DatabaseIdentifier:12316617] RefSeq:NP_597676.3 [DatabaseIdentifier:12316616] RefSeq:NP_596869.4 [DatabaseIdentifier:12283696] Pharos - Targets:Q8WZ42 [DatabaseIdentifier:12242509] PRO:Q8WZ42 [DatabaseIdentifier:12167472] PDB:1TNM [DatabaseIdentifier:12167483] PDB:4QEG [DatabaseIdentifier:12167486] PDB:5JDE [DatabaseIdentifier:12167481] PDB:2WWM [DatabaseIdentifier:12167498] PDB:2J8H [DatabaseIdentifier:12167495] PDB:3QP3 [DatabaseIdentifier:12167478] PDB:2WWK [DatabaseIdentifier:12167494] PDB:1NCT [DatabaseIdentifier:12167482] PDB:2F8V [DatabaseIdentifier:12167474] PDB:3LPW [DatabaseIdentifier:12167465] PDB:4JNW [DatabaseIdentifier:12167476] PDB:1BPV [DatabaseIdentifier:12167477] PDB:8P35 [DatabaseIdentifier:12167496] PDB:4C4K [DatabaseIdentifier:12167488] PDB:1WAA [DatabaseIdentifier:12167471] PDB:1TNN [DatabaseIdentifier:12167493] PDB:2Y9R [DatabaseIdentifier:12167492] PDB:2J8O [DatabaseIdentifier:12167470] PDB:8BW6 [DatabaseIdentifier:12167466] PDB:1YA5 [DatabaseIdentifier:12152075] PDB:8G4L [DatabaseIdentifier:12167491] PDB:1NCU [DatabaseIdentifier:12167467] PDB:4UOW [DatabaseIdentifier:12167459] PDB:1TIU [DatabaseIdentifier:12167487] PDB:2RQ8 [DatabaseIdentifier:12167480] PDB:2A38 [DatabaseIdentifier:12167485] PDB:7AHS [DatabaseIdentifier:12167475] PDB:8BVO [DatabaseIdentifier:12167469] PDB:3PUC [DatabaseIdentifier:12167489] PDB:6H4L [DatabaseIdentifier:12167461] PDB:4O00 [DatabaseIdentifier:12167490] PDB:1TKI [DatabaseIdentifier:12167473] PDB:8BNQ [DatabaseIdentifier:12167464] PDB:8OTY [DatabaseIdentifier:12167479] PDB:5JDJ [DatabaseIdentifier:12167468] PDB:5JOE [DatabaseIdentifier:12167463] PDB:8OQ9 [DatabaseIdentifier:12167460] PDB:1TIT [DatabaseIdentifier:12167484] PDB:5JDD [DatabaseIdentifier:12167497] PDB:1G1C [DatabaseIdentifier:12167462] PDB:7NIP [DatabaseIdentifier:12167458] PDB:3LCY [DatabaseIdentifier:12167445] PDB:8OMW [DatabaseIdentifier:12167437] PDB:2ILL [DatabaseIdentifier:12167456] PDB:3KNB [DatabaseIdentifier:12167441] PDB:8OVU [DatabaseIdentifier:12167440] PDB:8ORL [DatabaseIdentifier:12167444] PDB:6YGN [DatabaseIdentifier:12167451] PDB:8OT5 [DatabaseIdentifier:12167452] PDB:6I0Y [DatabaseIdentifier:12167448] PDB:8BXR [DatabaseIdentifier:12167454] PDB:6DL4 [DatabaseIdentifier:11448080] ENSEMBL:ENSG00000155657 [DatabaseIdentifier:11536323] ENSEMBL:ENSP00000434586 [DatabaseIdentifier:11536326] ENSEMBL:ENSP00000465570 [DatabaseIdentifier:11536327] ENSEMBL:ENSP00000343764 [DatabaseIdentifier:11536324] ENSEMBL:ENSP00000354117 [DatabaseIdentifier:11536325] ENSEMBL:ENSP00000352154 [DatabaseIdentifier:11659024] ENSEMBL:ENST00000460472 [DatabaseIdentifier:11659022] ENSEMBL:ENST00000359218 [DatabaseIdentifier:11659025] ENSEMBL:ENST00000360870 [DatabaseIdentifier:11659026] ENSEMBL:ENST00000591111 [DatabaseIdentifier:11659023] ENSEMBL:ENST00000342992 [DatabaseIdentifier:11781000] Guide to Pharmacology - Targets:2265 [DatabaseIdentifier:11785779] GeneCards:TTN [DatabaseIdentifier:11801319] GlyGen:Q8WZ42 [DatabaseIdentifier:11834176] HMDB Protein:HMDBP08825 [DatabaseIdentifier:11838863] HPA:ENSG00000155657-TTN [DatabaseIdentifier:12123377] OpenTargets:ENSG00000155657 [DatabaseIdentifier:12137943] Orphanet:TTN [DatabaseIdentifier:12167442] PDB:8OS3 [DatabaseIdentifier:12167449] PDB:3Q5O [DatabaseIdentifier:12167450] PDB:6HCI [DatabaseIdentifier:12167453] PDB:6FWX [DatabaseIdentifier:12167455] PDB:8OSD [DatabaseIdentifier:12167447] PDB:8OIY [DatabaseIdentifier:12167446] PDB:2NZI [DatabaseIdentifier:12154181] PDB:5BS0 [DatabaseIdentifier:12167438] PDB:6SDB [DatabaseIdentifier:12167443] PDB:2WP3 [DatabaseIdentifier:12167439] PDB:2BK8
databaseName	UniProt
dbId	251341
description	recommendedName: Titin ecNumber: 2.7.11.1 alternativeName: Connectin alternativeName: Rhabdomyosarcoma antigen MU-RMS-40.14
displayName	UniProt:Q8WZ42 TTN
geneName	TTN
identifier	Q8WZ42
isSequenceChanged	false
keyword	3D-structure Alternative splicing ATP-binding Calcium Calmodulin-binding Cardiomyopathy Coiled coil Cytoplasm Direct protein sequencing Disease variant Disulfide bond Immunoglobulin domain Kinase Limb-girdle muscular dystrophy Magnesium Metal-binding Myofibrillar myopathy Nucleotide-binding Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Serine/threonine-protein kinase Transferase
modified	[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
moleculeType	Protein
name	TTN
otherIdentifier	11715320_s_at 11715339_at 1557994_PM_at 1557994_at 16905600 208195_PM_at 208195_at 241791_PM_at 241791_at 244839_PM_at 244839_at 2589292 2589293 2589295 2589296 2589297 2589299 2589300 2589301 2589303 2589304 2589305 2589306 2589307 2589308 2589309 2589312 2589314 2589315 2589317 2589318 2589319 2589320 2589321 2589322 2589323 2589325 2589326 2589327 2589328 2589329 2589330 2589331 2589332 2589333 2589334 2589335 2589336 2589338 2589339 2589340 2589341 2589342 2589343 2589344 2589345 2589346 2589347 2589348 2589349 2589350 2589351 2589352 2589353 2589354 2589355 2589356 2589357 2589358 2589359 2589360 2589361 2589362 2589363 2589364 2589365 2589366 2589367 2589368 2589369 2589370 2589371 2589372 2589373 2589374 2589375 2589376 2589377 2589378 2589379 2589380 2589381 2589383 2589384 2589386 2589387 2589389 2589390 2589391 2589392 2589394 2589395 2589396 2589398 2589399 2589400 2589401 2589402 2589403 2589404 2589405 2589406 2589407 2589408 2589409 2589410 2589411 2589412 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GO:0000228 GO:0000794 GO:0002020 GO:0003007 GO:0003009 GO:0003012 GO:0003300 GO:0003824 GO:0004672 GO:0004674 GO:0004713 GO:0005198 GO:0005509 GO:0005515 GO:0005516 GO:0005524 GO:0005576 GO:0005634 GO:0005694 GO:0005737 GO:0005829 GO:0005856 GO:0005865 GO:0006468 GO:0006936 GO:0006941 GO:0007076 GO:0008092 GO:0008307 GO:0010628 GO:0010737 GO:0015629 GO:0016301 GO:0016740 GO:0019887 GO:0019899 GO:0019901 GO:0030018 GO:0030049 GO:0030240 GO:0030241 GO:0031430 GO:0031433 GO:0031674 GO:0032991 GO:0035995 GO:0042802 GO:0042803 GO:0042805 GO:0045214 GO:0045989 GO:0046872 GO:0048769 GO:0048856 GO:0050714 GO:0051015 GO:0051371 GO:0051592 GO:0055003 GO:0055008 GO:0055013 GO:0060048 GO:0060298 GO:0065003 GO:0070062 GO:0097493 GO:0106310 GO:0140096 GO:1990733 HMNXSV003007721 HMNXSV003011847 Hs.192907.0.A1_3p_at Hs.283382.0.A1_3p_at Hs2.421311.1.S1_3p_at ILMN_1652056 ILMN_1653665 ILMN_1667504 ILMN_1769416 ILMN_2415634 PH_hs_0033344 TC02004724.hg TC02004725.hg TC02005047.hg X90568_at g4507720_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-350726] TTN [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-350729] TTN [extracellular region] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000155657] ENSEMBL:ENSG00000155657 TTN [ReferenceDNASequence:12723803] UCSC:Q8WZ42 TTN [ReferenceDNASequence:11313651] BioGPS Gene:7273 TTN [ReferenceDNASequence:11397613] COSMIC - genes:TTN TTN [ReferenceDNASequence:11410414] CTD Gene:7273 TTN [ReferenceDNASequence:11434333] dbSNP Gene:7273 TTN [ReferenceDNASequence:11817410] HGNC:12403 TTN [ReferenceDNASequence:11857165] KEGG:hsa:7273 TTN [ReferenceDNASequence:11943440] Monarch:7273 TTN [ReferenceDNASequence:12027533] NCBI Gene:7273 TTN [ReferenceDNASequence:12108902] OMIM:188840 TTN
referenceTranscript	[ReferenceRNASequence:12498678] RefSeq:NM_133378.4 TTN [ReferenceRNASequence:12498679] RefSeq:NM_133379.5 TTN [ReferenceRNASequence:12498675] RefSeq:NM_001267550.2 TTN [ReferenceRNASequence:12498677] RefSeq:NM_003319.4 TTN [ReferenceRNASequence:12498680] RefSeq:NM_133432.3 TTN [ReferenceRNASequence:12498676] RefSeq:NM_001256850.1 TTN
schemaClass	ReferenceGeneProduct
secondaryIdentifier	TITIN_HUMAN A0A0A0MTS7 A6NKB1 C9JQJ2 E7EQE6 E7ET18 K7ENY1 Q10465 Q10466 Q15598 Q2XUS3 Q32Q60 Q4U1Z6 Q4ZG20 Q6NSG0 Q6PDB1 Q6PJP0 Q7KYM2 Q7KYN4 Q7KYN5 Q7LDM3 Q7Z2X3 Q8TCG8 Q8WZ51 Q8WZ52 Q8WZ53 Q8WZB3 Q92761 Q92762 Q9UD97 Q9UP84 Q9Y6L9
sequenceLength	34350
species	[Species:48887] Homo sapiens
stId	uniprot:Q8WZ42
url	http://purl.uniprot.org/uniprot/Q8WZ42

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-350726] TTN [cytosol] [EntityWithAccessionedSequence:R-HSA-350729] TTN [extracellular region]
(interactor)	[UndirectedInteraction:11131513] UniProt:O75923 <-> UniProt:Q8WZ42 (IntAct) [UndirectedInteraction:11203611] UniProt:Q9GZQ8 <-> UniProt:Q8WZ42 (IntAct) [UndirectedInteraction:11253147] UniProt:Q96CV9 <-> UniProt:Q8WZ42 (IntAct) [UndirectedInteraction:11275793] UniProt:P52735 <-> UniProt:Q8WZ42 (IntAct) [UndirectedInteraction:11299547] UniProt:Q969Q1 <-> UniProt:Q8WZ42 (IntAct)

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