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    TTN titin [ Homo sapiens (human) ]

    Gene ID: 7273, updated on 12-Nov-2017
    Official Symbol
    TTNprovided by HGNC
    Official Full Name
    titinprovided by HGNC
    Primary source
    HGNC:HGNC:12403
    See related
    Ensembl:ENSG00000155657 MIM:188840; Vega:OTTHUMG00000154448
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMD; CMH9; CMD1G; CMPD4; EOMFC; HMERF; MYLK5; SALMY; LGMD2J
    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]
    Orthologs
    Location:
    2q31.2
    Exon count:
    364
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (178525989..178807423, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179390716..179672150, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene FK506 binding protein 7 Neighboring gene pleckstrin homology domain containing A3 Neighboring gene TTN antisense RNA 1 Neighboring gene uncharacterized LOC101927055 Neighboring gene RNA, U7 small nuclear 104 pseudogene Neighboring gene coiled-coil domain containing 141 Neighboring gene uncharacterized LOC105373766

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Dilated cardiomyopathy 1G Compare labs
    Distal myopathy Markesbery-Griggs type
    MedGen: C1838244 OMIM: 600334 GeneReviews: Udd Distal Myopathy
    Compare labs
    Familial hypertrophic cardiomyopathy 9
    MedGen: C1861065 OMIM: 613765 GeneReviews: Not available
    Compare labs
    Hereditary myopathy with early respiratory failure Compare labs
    Limb-girdle muscular dystrophy, type 2J
    MedGen: C1837342 OMIM: 608807 GeneReviews: Not available
    Compare labs
    Myopathy, early-onset, with fatal cardiomyopathy
    MedGen: C2673677 OMIM: 611705 GeneReviews: Salih Myopathy
    Compare labs
    Primary dilated cardiomyopathy Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    NHGRI GWA Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    NHGRI GWA Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
      Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ26020, FLJ26409, FLJ32040, FLJ34413, FLJ39564, FLJ43066, DKFZp451N061

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actinin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calmodulin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    muscle alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein self-association IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    structural constituent of muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    structural molecule activity conferring elasticity TAS
    Traceable Author Statement
    more info
    PubMed 
    telethonin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    telethonin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac myofibril assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    detection of muscle stretch IDA
    Inferred from Direct Assay
    more info
    PubMed 
    detection of muscle stretch TAS
    Traceable Author Statement
    more info
    PubMed 
    mitotic chromosome condensation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    muscle contraction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein secretion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein kinase A signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of catalytic activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sarcomerogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle myosin thick filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle thin filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    striated muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    M band IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    muscle myosin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    titin
    Names
    connectin
    rhabdomyosarcoma antigen MU-RMS-40.14
    NP_001243779.1
    NP_001254479.2
    NP_003310.4
    NP_596869.4
    NP_596870.2
    NP_597676.3
    NP_597681.4
    XP_016860308.1
    XP_016860309.1
    XP_016860310.1
    XP_016860311.1
    XP_016860312.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011618.3 RefSeqGene

      Range
      28380..309814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_391

    mRNA and Protein(s)

    1. NM_001256850.1NP_001243779.1  titin isoform N2BA

      See identical proteins and their annotated locations for NP_001243779.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (N2BA) encodes another major cardiac isoform (N2BA). It includes the N2A and N2B exons, and also the PEVK region. This variant is supported by annotation on DNA accession AJ277892.2 and by accompanying data in PMIDs 10850961 and 11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199
      Consensus CDS
      CCDS74610.1
      UniProtKB/Swiss-Prot
      Q8WZ42
      Related
      ENSP00000483597.1, ENST00000615779.5
      Conserved Domains (16) summary
      cd00096
      Location:58995968
      Ig; Immunoglobulin domain
      cd05747
      Location:3348533576
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:2172021791
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:46784744
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:1642516509
      FN3; Fibronectin type 3 domain
      smart00220
      Location:3217832432
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:2023220312
      IG; Immunoglobulin
      smart00410
      Location:2820728289
      IG_like; Immunoglobulin like
      cd00063
      Location:2582925921
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:88888977
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:3217732453
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam00047
      Location:68246907
      ig; Immunoglobulin domain
      pfam02818
      Location:1095510981
      PPAK; PPAK motif
      pfam05104
      Location:1012010296
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam13895
      Location:1339813462
      Ig_2; Immunoglobulin domain
      cl11960
      Location:2456924642
      Ig; Immunoglobulin domain
    2. NM_001267550.2NP_001254479.2  titin isoform IC

      Status: REVIEWED

      Description
      Transcript Variant: This variant (IC) represents an inferred complete model that includes all possible supported in-frame coding exons. The exons included in this inferred variant are supported by the original sequence analysis, publication data(PMID:11717165), available cDNA and EST data, and additional sequence analysis of the repetitive exons. This transcript is the longest and represents a 363-exon model encoding a predicted protein (isoform IC) of 35,991 amino acids.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199, KF459616
      Consensus CDS
      CCDS59435.1
      UniProtKB/TrEMBL
      A0A0A0MTS7
      Related
      ENSP00000467141.1, OTTHUMP00000263894, ENST00000589042.5, OTTHUMT00000450680
      Conserved Domains (17) summary
      cd00096
      Location:73407409
      Ig; Immunoglobulin domain
      cd05747
      Location:3512635217
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:2256722640
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:49955061
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:1806618150
      FN3; Fibronectin type 3 domain
      smart00220
      Location:3381934073
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:2187321953
      IG; Immunoglobulin
      smart00410
      Location:2984829930
      IG_like; Immunoglobulin like
      cd00063
      Location:2747027562
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:92059294
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:3381834094
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam00047
      Location:71417224
      ig; Immunoglobulin domain
      pfam02818
      Location:1127211298
      PPAK; PPAK motif
      pfam05104
      Location:1043710613
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam13895
      Location:1503915103
      Ig_2; Immunoglobulin domain
      pfam16031
      Location:1228612406
      TonB_N; TonB N-terminal region
      cl11960
      Location:2621026283
      Ig; Immunoglobulin domain
    3. NM_003319.4NP_003310.4  titin isoform N2-B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (N2-B) encodes the major cardiac muscle isoform (N2-B). It lacks multiple exons in the region encoding PEVK repeats. This results in a shortened PEVK region in isoform N2-B compared to isoform IC. This variant is supported by data in PMIDs 10850961 and 11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199
      Consensus CDS
      CCDS54421.1
      UniProtKB/Swiss-Prot
      Q8WZ42
      Related
      ENSP00000434586.1, OTTHUMP00000233810, ENST00000460472.6, OTTHUMT00000335575
      Conserved Domains (13) summary
      cd00096
      Location:2405324120
      Ig; Immunoglobulin domain
      cd05747
      Location:2606126152
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:1429614367
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:910976
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:90019085
      FN3; Fibronectin type 3 domain
      smart00220
      Location:2475425008
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:1782317904
      IG; Immunoglobulin
      smart00410
      Location:2078320865
      IG_like; Immunoglobulin like
      cd00063
      Location:1840518497
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:697
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:2475325029
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam13895
      Location:59746038
      Ig_2; Immunoglobulin domain
      cl11960
      Location:1714517218
      Ig; Immunoglobulin domain
    4. NM_133378.4NP_596869.4  titin isoform N2-A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (N2-A) encodes isoform N2-A, which is the predominant titin isoform in skeletal muscle. This variant lacks the N2B region but includes the PEVK region. This variant is supported by data in PMIDs 7569978, 10850961 and 11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199
      Consensus CDS
      CCDS54424.1
      UniProtKB/Swiss-Prot
      Q8WZ42
      Related
      ENSP00000343764.6, OTTHUMP00000233809, ENST00000342992.10, OTTHUMT00000335574
      Conserved Domains (16) summary
      cd00096
      Location:49725041
      Ig; Immunoglobulin domain
      cd05747
      Location:3255832649
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:1999920072
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:37513817
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:1549815582
      FN3; Fibronectin type 3 domain
      smart00220
      Location:3125131505
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:2728027362
      IG; Immunoglobulin
      smart00410
      Location:1930519385
      IG_like; Immunoglobulin like
      cd00063
      Location:2490224994
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:79618050
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:3125031526
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam00047
      Location:58975980
      ig; Immunoglobulin domain
      pfam02818
      Location:1002810054
      PPAK; PPAK motif
      pfam05104
      Location:91939369
      Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
      pfam13895
      Location:1247112535
      Ig_2; Immunoglobulin domain
      cl11960
      Location:2364223715
      Ig; Immunoglobulin domain
    5. NM_133379.4NP_596870.2  titin isoform novex-3

      See identical proteins and their annotated locations for NP_596870.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (novex-3) is the shortest transcript and encodes the shortest isoform (novex-3). Its last exon is nearly 8 kb and is not found in the other variants. The novex-3 isoform, which is found in all striated muscle, lacks the PEVK region and has a C-terminal truncation compared to longer isoforms. This variant is supported by data in PMID:11717165.
      Source sequence(s)
      AC023270, BX537998
      Consensus CDS
      CCDS33337.1
      UniProtKB/Swiss-Prot
      Q8WZ42
      UniProtKB/TrEMBL
      Q7Z3B7
      Related
      ENSP00000354117.4, OTTHUMP00000205904, ENST00000360870.9, OTTHUMT00000335713
      Conserved Domains (6) summary
      cd00096
      Location:35213594
      Ig; Immunoglobulin domain
      smart00408
      Location:9561022
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:31543233
      IG_like; Immunoglobulin like
      pfam07679
      Location:697
      I-set; Immunoglobulin I-set domain
      pfam09042
      Location:468491
      Titin_Z; Titin Z
      cl11960
      Location:2697
      Ig; Immunoglobulin domain
    6. NM_133432.3NP_597676.3  titin isoform novex-1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (novex-1) encodes the minor cardiac muscle isoform (novex-1 or novex-1/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 125 aa in the I-band region. This variant is supported by data in PMID:11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199
      Consensus CDS
      CCDS54423.1
      UniProtKB/Swiss-Prot
      Q8WZ42
      Related
      ENSP00000352154.5, ENST00000359218.10
      Conserved Domains (13) summary
      cd00096
      Location:2417824245
      Ig; Immunoglobulin domain
      cd05747
      Location:2618626277
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:1442114492
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:910976
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:91269210
      FN3; Fibronectin type 3 domain
      smart00220
      Location:2487925133
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:1686516945
      IG; Immunoglobulin
      smart00410
      Location:2090820990
      IG_like; Immunoglobulin like
      cd00063
      Location:1853018622
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:697
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:2487825154
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam13895
      Location:60996163
      Ig_2; Immunoglobulin domain
      cl11960
      Location:1727017343
      Ig; Immunoglobulin domain
    7. NM_133437.4NP_597681.4  titin isoform novex-2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (novex-2) encodes the minor cardiac and skeletal muscle isoform (novex-2 or novex-2/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 192 aa in the I-band region. This variant is supported by data in PMID:11717165.
      Source sequence(s)
      AC009948, AC010680, AC023270, FJ695199, KF459616
      Consensus CDS
      CCDS54422.1
      UniProtKB/TrEMBL
      A0A0A0MRA3
      Related
      ENSP00000340554.6, ENST00000342175.11
      Conserved Domains (13) summary
      cd00096
      Location:2424524312
      Ig; Immunoglobulin domain
      cd05747
      Location:2625326344
      Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
      cd05748
      Location:1448814559
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      smart00408
      Location:910976
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:91939277
      FN3; Fibronectin type 3 domain
      smart00220
      Location:2494625200
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      smart00409
      Location:1693217012
      IG; Immunoglobulin
      smart00410
      Location:2097521057
      IG_like; Immunoglobulin like
      cd00063
      Location:1859718689
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:697
      I-set; Immunoglobulin I-set domain
      cd14104
      Location:2494525221
      STKc_Titin; Catalytic domain of the Giant Serine/Threonine Kinase Titin
      pfam13895
      Location:61666230
      Ig_2; Immunoglobulin domain
      cl11960
      Location:1733717410
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      178525989..178807423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004821.1XP_016860310.1  titin isoform X3

    2. XM_017004820.1XP_016860309.1  titin isoform X2

    3. XM_017004823.1XP_016860312.1  titin isoform X5

    4. XM_017004822.1XP_016860311.1  titin isoform X4

    5. XM_017004819.1XP_016860308.1  titin isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      179396760..179678208 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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