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    TCAP titin-cap [ Homo sapiens (human) ]

    Gene ID: 8557, updated on 3-Jul-2016
    Official Symbol
    TCAPprovided by HGNC
    Official Full Name
    titin-capprovided by HGNC
    Primary source
    HGNC:HGNC:11610
    See related
    Ensembl:ENSG00000173991 HPRD:05133; MIM:604488; Vega:OTTHUMG00000133215
    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
    TELE; CMD1N; CMH25; T-cap; LGMD2G; telethonin
    Summary
    Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17q12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (39665346..39666554)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37821599..37822807)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1B Neighboring gene StAR related lipid transfer domain containing 3 Neighboring gene phenylethanolamine N-methyltransferase Neighboring gene post-GPI attachment to proteins 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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.
    • 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    BMP binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    FATZ binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding, bridging IDA
    Inferred from Direct Assay
    more info
    PubMed 
    structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    titin Z domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    titin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adult heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 hypertrophy in response to stress 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 mechanical stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    detection of muscle stretch IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    otic vesicle formation IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    response to muscle stretch TAS
    Traceable Author Statement
    more info
    PubMed 
    sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sarcomere organization TAS
    Traceable Author Statement
    more info
    PubMed 
    sarcomerogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle contraction IEP
    Inferred from Expression Pattern
    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 
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    I band ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    telethonin
    Names
    19 kDa sarcomeric protein
    limb girdle muscular dystrophy 2G (autosomal recessive)
    teneurin C-terminal associated peptide
    titin cap protein

    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_008892.1 RefSeqGene

      Range
      5001..6209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_210

    mRNA and Protein(s)

    1. NM_003673.3NP_003664.1  telethonin

      See identical proteins and their annotated locations for NP_003664.1

      Status: REVIEWED

      Source sequence(s)
      AJ000491, DA899335
      Consensus CDS
      CCDS11342.1
      UniProtKB/Swiss-Prot
      O15273
      UniProtKB/TrEMBL
      A2TDC0
      Related
      ENSP00000312624, OTTHUMP00000164283, ENST00000309889, OTTHUMT00000256942
      Conserved Domains (1) summary
      pfam09470
      Location:1167
      Telethonin; Telethonin protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      39665346..39666554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      38057420..38058628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)