Entity Details

Primary name TITIN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WZ42
EntryNameTITIN_HUMAN
FullNameTitin
TaxID9606
Evidenceevidence at protein level
Length34350
SequenceStatuscomplete
DateCreated2006-06-13
DateModified2021-06-02

Ontological Relatives

GenesTTN

GO terms

Show/Hide Table
GOName
GO:0000794 condensed nuclear chromosome
GO:0002020 protease binding
GO:0002576 platelet degranulation
GO:0003300 cardiac muscle hypertrophy
GO:0004674 protein serine/threonine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005509 calcium ion binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005865 striated muscle thin filament
GO:0006936 muscle contraction
GO:0006941 striated muscle contraction
GO:0007076 mitotic chromosome condensation
GO:0008307 structural constituent of muscle
GO:0010628 positive regulation of gene expression
GO:0010737 protein kinase A signaling
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0030018 Z disc
GO:0030049 muscle filament sliding
GO:0030240 skeletal muscle thin filament assembly
GO:0030241 skeletal muscle myosin thick filament assembly
GO:0031430 M band
GO:0031433 telethonin binding
GO:0031674 I band
GO:0035995 detection of muscle stretch
GO:0042802 identical protein binding
GO:0042805 actinin binding
GO:0043621 protein self-association
GO:0045214 sarcomere organization
GO:0045859 regulation of protein kinase activity
GO:0048769 sarcomerogenesis
GO:0050714 positive regulation of protein secretion
GO:0050790 regulation of catalytic activity
GO:0051015 actin filament binding
GO:0051371 muscle alpha-actinin binding
GO:0051592 response to calcium ion
GO:0055003 cardiac myofibril assembly
GO:0055008 cardiac muscle tissue morphogenesis
GO:0060048 cardiac muscle contraction
GO:0070062 extracellular exosome
GO:0097493 structural molecule activity conferring elasticity
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR000719 Protein kinase domainDomainDomain
IPR003598 Immunoglobulin subtype 2DomainDomain
IPR003599 Immunoglobulin subtypeDomainDomain
IPR003961 Fibronectin type IIIDomainDomain
IPR004168 PPAK motifRepeatRepeat
IPR007110 Immunoglobulin-like domainDomainDomain
IPR008266 Tyrosine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR013098 Immunoglobulin I-setDomainDomain
IPR013106 Immunoglobulin V-set domainDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR015129 Titin, Z repeatRepeatRepeat
IPR036116 Fibronectin type III superfamilyFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily
IPR040849 MyBP-C, tri-helix bundle domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
613765 OMIMCardiomyopathy, familial hypertrophic 9 (CMH9)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. The disease is caused by variants affecting the gene represented in this entry.
611705 OMIMSalih myopathy (SALMY)An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry.
603689 OMIMMyopathy, myofibrillar, 9, with early respiratory failure (MFM9)An autosomal dominant myopathy characterized by adulthood onset of weakness in proximal, distal, axial and respiratory muscles. Pelvic girdle weakness, foot drop and neck weakness are the main symptoms at onset, but ultimately the weakness usually involves the proximal compartment of both upper and lower limbs. Additional features include variable degrees of Achilles tendon contractures, spinal rigidity and muscle hypertrophy. Respiratory involvement often leads to requirement for non-invasive ventilation support. The disease is caused by variants affecting the gene represented in this entry.
600334 OMIMTardive tibial muscular dystrophy (TMD)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. The disease is caused by variants affecting the gene represented in this entry.
604145 OMIMCardiomyopathy, dilated 1G (CMD1G)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
608807 OMIMMuscular dystrophy, limb-girdle, autosomal recessive 10 (LGMDR10)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

93 interactions

InteractorPartnerSourcesPublicationsLink
TITIN_HUMANTITIN_HUMANBioGRID, DIP, IntAct16407954 16962974 23414517 9804419 details
TITIN_HUMANACTN2_HUMANbhf-ucl, BioGRID, HPRD, IntAct, mbinfo, MINT11101506 11846417 16902413 23414517 9501083 details
TITIN_HUMANOBSCN_HUMANBioGRID, DIP, HPRD, IntAct, MINT, UniProt11448995 11717165 17716621 20133654 20489725 23414517 details
TITIN_HUMANNEBU_HUMANHPRD, MINT11851340 12482578 16902413 details
TITIN_HUMANFLNA_HUMANHPRD, MINT16902413 details
TITIN_HUMANTELT_HUMANbhf-ucl, BioGRID, DIP, HPRD, IntAct11846417 12446666 15582318 15802564 16407954 16962094 19622741 23414517 9645487 9804419 9817758 details
TITIN_HUMANTRI63_HUMANBioGRID, HPRD, IntAct, MINT11243782 11927605 12414993 15967462 17215480 18157088 23414517 24850911 31628103 details
TITIN_HUMANSMUF2_HUMANMINT18157088 details
TITIN_HUMANVAV2_HUMANBioGRID, IntAct18654987 23414517 details
TITIN_HUMANOBSL1_HUMANDIP, MINT20133654 20489725 details
TITIN_HUMANCAN3_HUMANBioGRID, HPRD, IntAct, MINT10987085 20860623 23414517 8537379 9185618 9642272 9763216 details
TITIN_HUMANFSTL1_HUMANMINT20860622 details
TITIN_HUMANDYSF_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANOPTN_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANMYOM2_HUMANBioGRID, HPRD, IntAct23414517 7505783 details
TITIN_HUMANAMOT_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANANKR1_HUMANBioGRID, HPRD, IntAct14583192 23414517 details
TITIN_HUMANANR28_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANASH2L_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANC1T9A_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANTCPZ_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANCLIP4_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANDNJB5_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANDNJB6_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANENOA_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANENOB_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANFHL1_HUMANBioGRID, IntAct22778266 23414517 details
TITIN_HUMANITBP2_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANITB5_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANJPH1_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANLIMS1_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANMAST2_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANMYPC2_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANMYBPH_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANPOMP_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANPYGM_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANRN167_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANSGCG_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANSHLB1_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANABLM1_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANABLM2_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANACTN3_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANACTN4_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANATPD_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANCHD4_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANEXOSX_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANFINC_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANFND3B_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANGBRAP_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANHS71A_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANHS71B_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANMYPC1_HUMANBioGRID, HPRD, IntAct1429890 23414517 details
TITIN_HUMANMYCB2_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANMYOM1_HUMANBioGRID, HPRD, IntAct23414517 7588733 details
TITIN_HUMANNEK9_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANNEO1_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANPARD3_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANSERA_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANRL12_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANRYR1_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANSF01_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANTAB2_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANTTC3_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANUBC9_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANUGPA_HUMANBioGRID, IntAct23414517 details
TITIN_HUMANSRPK2_HUMANBioGRID, IntAct23602568 details
TITIN_HUMANACTN1_HUMANBioGRID, HPRD, mbinfo11101506 11305911 11846417 9501083 details
TITIN_HUMANCALM2_HUMANbhf-ucl, BioGRID, HPRD11178895 7607248 details
TITIN_HUMANSYNEM_HUMANMINT25447537 details
TITIN_HUMANHSPB2_HUMANbhf-ucl, BioGRID26465331 details
TITIN_HUMANANR23_HUMANBioGRID, HPRD14583192 details
TITIN_HUMANMYPN_HUMANBioGRID14583192 details
TITIN_HUMANANKR2_HUMANBioGRID, HPRD14583192 details
TITIN_HUMANMYPC3_HUMANBioGRID, HPRD12202917 8631348 details
TITIN_HUMANANK1_HUMANBioGRID, HPRD12444090 16962094 details
TITIN_HUMANFHL2_HUMANBioGRID, HPRD12432079 details
TITIN_HUMANNBR1_HUMANBioGRID15802564 details
TITIN_HUMANSQSTM_HUMANBioGRID15802564 details
TITIN_HUMANTRI55_HUMANBioGRID18157088 31628103 details
TITIN_HUMANMK01_HUMANBioGRID22778266 details
TITIN_HUMANT22D2_HUMANBioGRID27337956 details
TITIN_HUMANDFFA_HUMANIntAct17353931 details
TITIN_HUMANDDX56_HUMANIntAct17353931 details
TITIN_HUMANMCRS1_HUMANIntAct17353931 details
TITIN_HUMAN1433T_HUMANBioGRID20618440 details
TITIN_HUMANCRYAB_HUMANBioGRID, HPRD14676215 details
TITIN_HUMANCALM1_HUMANBioGRID, HPRD11178895 7607248 details
TITIN_HUMANCALM3_HUMANBioGRID, HPRD11178895 7607248 details
TITIN_HUMANGAN_HUMANBioGRID26460568 details
TITIN_HUMANHEY1_HUMANBioGRID27129302 details
TITIN_HUMANTULP3_HUMANBioGRID33187986 details
TITIN_HUMANACTS_HUMANHPRD11701614 15507486 9251807 details
TITIN_HUMANMYH9_HUMANHPRD8063857 details