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TCAP titin-cap [ Homo sapiens (human) ]

Gene ID: 8557, updated on 26-Aug-2014
Official Symbol
TCAPprovided by HGNC
Official Full Name
titin-capprovided by HGNC
Primary source
HGNC:11610
See related
HPRD:05133; MIM:604488
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; 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]
See TCAP in Epigenomics, MapViewer
Location:
17q12
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (START) 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 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...
  • 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....
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
telethonin
titin cap protein
19 kDa sarcomeric protein
limb girdle muscular dystrophy 2G (autosomal recessive)

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 

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

mRNA and Protein(s)

  1. NM_003673.3NP_003664.1  telethonin

    See proteins identical to NP_003664.1

    Status: REVIEWED

    Source sequence(s)
    AJ000491, DA899335
    Consensus CDS
    CCDS11342.1
    UniProtKB/TrEMBL
    A2TDC0
    UniProtKB/Swiss-Prot
    O15273
    Conserved Domains (1) summary
    pfam09470
    Location:1167
    Blast Score: 822
    Telethonin; Telethonin protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

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

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    33615530..33616738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

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