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    TCAP titin-cap [ Homo sapiens (human) ]

    Gene ID: 8557, updated on 7-Sep-2023

    Summary

    Official Symbol
    TCAPprovided by HGNC
    Official Full Name
    titin-capprovided by HGNC
    Primary source
    HGNC:HGNC:11610
    See related
    Ensembl:ENSG00000173991 MIM:604488; AllianceGenome:HGNC:11610
    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; LGMDR7; 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]
    Expression
    Restricted expression toward heart (RPKM 1072.6) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TCAP in Genome Data Viewer
    Location:
    17q12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39665349..39666554)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40528914..40530119)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37821602..37822807)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37787615-37788534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37788535-37789454 Neighboring gene uncharacterized LOC124903998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37791542-37792165 Neighboring gene StAR related lipid transfer domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37810255-37810816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37814469-37815344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37822021-37822758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37822759-37823496 Neighboring gene VISTA enhancer hs1769 Neighboring gene phenylethanolamine N-methyltransferase Neighboring gene post-GPI attachment to proteins phospholipase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37835782-37836282

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables FATZ binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables molecular adaptor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables structural constituent of muscle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables titin Z domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables titin Z domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables titin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables titin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adult heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle hypertrophy in response to stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle tissue morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac myofibril assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cardiac myofibril assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in detection of mechanical stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in detection of muscle stretch IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in detection of muscle stretch IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in otic vesicle formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to muscle stretch TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sarcomere organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sarcomerogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in sarcomerogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in skeletal muscle contraction IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in skeletal muscle myosin thick filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in skeletal muscle myosin thick filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle thin filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in skeletal muscle thin filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in I band ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    telethonin
    Names
    19 kDa sarcomeric protein
    limb girdle muscular dystrophy 2G (autosomal recessive)
    teneurin C-terminal associated peptide
    titin cap protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_003673.4NP_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, Q96L27
      UniProtKB/TrEMBL
      A2TDC0
      Related
      ENSP00000312624.2, ENST00000309889.3
      Conserved Domains (1) summary
      pfam09470
      Location:17167
      Telethonin; Telethonin protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39665349..39666554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40528914..40530119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)