InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: TCAP

Summary

InnateDB Gene

IDBG-45922.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TCAP

Gene Name

titin-cap

Synonyms

CMD1N; LGMD2G; T-cap; TELE; telethonin

Species

Homo sapiens

Ensembl Gene

ENSG00000173991

Encoded Proteins

IDBP-45924

titin-cap (telethonin)

IDBP-758745

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:39664187-39666555

Strand

Forward strand

Band

q12

Transcripts

ENST00000309889	ENSP00000312624
ENST00000578283	ENSP00000462787

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	25 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008307	structural constituent of muscle
GO:0030674	protein binding, bridging
GO:0031432	titin binding
GO:0044325	ion channel binding
GO:0051373	FATZ binding
GO:0070080	titin Z domain binding

Biological Process

GO:0001756	somitogenesis
GO:0003009	skeletal muscle contraction
GO:0003300	cardiac muscle hypertrophy
GO:0006461	protein complex assembly
GO:0007512	adult heart development
GO:0014898	cardiac muscle hypertrophy in response to stress
GO:0030049	muscle filament sliding
GO:0030240	skeletal muscle thin filament assembly
GO:0030241	skeletal muscle myosin thick filament assembly
GO:0030916	otic vesicle formation
GO:0035994	response to muscle stretch
GO:0035995	detection of muscle stretch
GO:0045214	sarcomere organization
GO:0048739	cardiac muscle fiber development
GO:0048769	sarcomerogenesis
GO:0050982	detection of mechanical stimulus
GO:0055003	cardiac myofibril assembly
GO:0055008	cardiac muscle tissue morphogenesis
GO:0060048	cardiac muscle contraction

Cellular Component

GO:0005829	cytosol
GO:0030018	Z disc
GO:0031674	I band

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000007877

View Gene Order

ENSBTAG00000011730

Not yet available

Pathways

NETPATH

REACTOME

REACT_16969

Striated Muscle Contraction pathway

REACT_17044

Muscle contraction pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

A9QT26 J3KT40

UniProt Splice Variant

Entrez Gene

8557

UniGene

Hs.77628

RefSeq

NM_003673

HUGO

HGNC:11610

OMIM

604488

CCDS

CCDS11342

HPRD

05133

IMGT

EMBL

AC087491 EU257805

GenPept

ABX57861

RNA Seq Atlas

8557