Tcap titin-cap [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tcapprovided by MGI
Official Full Name: titin-capprovided by MGI
Primary source: MGI:MGI:1330233
See related: Ensembl:ENSMUSG00000007877 AllianceGenome:MGI:1330233
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable several functions, including BMP binding activity; cytoskeletal protein binding activity; and titin Z domain binding activity. Predicted to be a structural constituent of muscle. Acts upstream of or within adult heart development; otic vesicle formation; and somitogenesis. Located in Z disc. Is expressed in heart; otocyst; tail somite; and trunk somite. Used to study autosomal recessive limb-girdle muscular dystrophy type 2G. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2G and hypertrophic cardiomyopathy 25. Orthologous to human TCAP (titin-cap). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 497.5), mammary gland adult (RPKM 96.5) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 61.75 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (98274637..98275779)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (98383811..98384953)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The circadian E3 ligase FBXL21 regulates myoblast differentiation and sarcomere architecture via MYOZ1 ubiquitination and NFAT signaling.
Title: The circadian E3 ligase FBXL21 regulates myoblast differentiation and sarcomere architecture via MYOZ1 ubiquitination and NFAT signaling.
The GSK-3beta-FBXL21 Axis Contributes to Circadian TCAP Degradation and Skeletal Muscle Function.
Title: The GSK-3β-FBXL21 Axis Contributes to Circadian TCAP Degradation and Skeletal Muscle Function.
cardiac telethonin is constitutively bis-phosphorylated and suggest that such phosphorylation is critical for normal telethonin function, which may include maintenance of transverse tubule organization and intracellular Ca(2+) transients.
Title: Phosphoregulation of the titin-cap protein telethonin in cardiac myocytes.
Tcap is a critical, load-sensitive regulator of t-tubule structure and function.
Title: A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart.
Telethonin knockout mice develop heart failure following biomechanical stress, owing at least in part to apoptosis of cardiomyocytes, an effect that may also play a role in human heart failure.
Title: Telethonin deficiency is associated with maladaptation to biomechanical stress in the mammalian heart.
Whereas both promotor E boxes in Tcap are required for full activation by MyoD or myogenin in NIH3T3 cells, the promoter proximal E box has a greater contribution to activation in C2C12 cells and to activation by MyoD in NIH3T3 cells.
Title: Transcriptional analysis of the titin cap gene.
Findings suggest that TCAP knockdown with RNA interference alters normal muscle cell differentiation.
Title: TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables BMP binding	ISO Inferred from Sequence Orthology more info
enables FATZ binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
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
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info
enables structural constituent of muscle	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of muscle	ISO Inferred from Sequence Orthology more info
enables titin Z domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables titin Z domain binding	ISO Inferred from Sequence Orthology more info
enables titin binding	IBA Inferred from Biological aspect of Ancestor more info
enables titin binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in adult heart development	IEP Inferred from Expression Pattern more info	PubMed
involved_in adult heart development	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle cell development	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle hypertrophy	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle hypertrophy in response to stress	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle tissue morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in cardiac myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac myofibril assembly	ISO Inferred from Sequence Orthology more info
involved_in detection of muscle stretch	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of muscle stretch	ISO Inferred from Sequence Orthology more info
involved_in otic vesicle formation	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within sarcomere organization	ISO Inferred from Sequence Orthology more info	PubMed
involved_in sarcomere organization	ISO Inferred from Sequence Orthology more info
involved_in sarcomerogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in sarcomerogenesis	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle myosin thick filament assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle myosin thick filament assembly	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle thin filament assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle thin filament assembly	ISO Inferred from Sequence Orthology more info
involved_in somitogenesis	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in I band	IDA Inferred from Direct Assay more info	PubMed
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: telethonin

Names: titin cap protein

NCBI Reference Sequences (RefSeq)

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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.