InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Ttn

Summary

InnateDB Gene

IDBG-182351.6

Last Modified

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

Gene Symbol

Ttn

Gene Name

titin

Synonyms

1100001C23Rik; 2310036G12Rik; 2310057K23Rik; 2310074I15Rik; AF006999; AV006427; D330041I19Rik; D830007G01Rik; L56; mdm; shru

Species

Mus musculus

Ensembl Gene

ENSMUSG00000051747

Encoded Proteins

IDBP-182302

titin

IDBP-182658

titin

IDBP-182670

titin

IDBP-257113

titin

IDBP-257117

titin

IDBP-540419

titin

IDBP-538649

titin

IDBP-533750

titin

IDBP-542456

titin

IDBP-537715

titin

IDBP-532187

titin

IDBP-537447

titin

IDBP-537615

titin

IDBP-539047

titin

IDBP-536681

titin

IDBP-541028

titin

IDBP-533503

titin

IDBP-539867

titin

IDBP-534634

titin

IDBP-535009

titin

IDBP-789981

titin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000155657:
This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:76703980-76982547

Strand

Reverse strand

Band

Transcripts

ENSMUST00000011934	ENSMUSP00000011934
ENSMUST00000099981	ENSMUSP00000097561
ENSMUST00000099980	ENSMUSP00000097560
ENSMUST00000111882	ENSMUSP00000107513
ENSMUST00000111846	ENSMUSP00000107477
ENSMUST00000134720	ENSMUSP00000116594
ENSMUST00000148747	ENSMUSP00000117447
ENSMUST00000149616	ENSMUSP00000123202
ENSMUST00000152185	ENSMUSP00000118492
ENSMUST00000130915	ENSMUSP00000115190
ENSMUST00000155365	ENSMUSP00000121095
ENSMUST00000128071	ENSMUSP00000118602
ENSMUST00000142251	ENSMUSP00000119894
ENSMUST00000137854	ENSMUSP00000117059
ENSMUST00000156257	ENSMUSP00000114666
ENSMUST00000150741	ENSMUSP00000117534
ENSMUST00000151097	ENSMUSP00000118209
ENSMUST00000126515	ENSMUSP00000119089
ENSMUST00000138542	ENSMUSP00000116031
ENSMUST00000139832
ENSMUST00000123448
ENSMUST00000123804
ENSMUST00000140091	ENSMUSP00000122470
ENSMUST00000147048
ENSMUST00000190813	ENSMUSP00000140714

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 95 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	95 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0003676	nucleic acid binding
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005089	Rho guanyl-nucleotide exchange factor activity
GO:0005200	structural constituent of cytoskeleton
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0008307	structural constituent of muscle
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0019899	enzyme binding
GO:0019901	protein kinase binding
GO:0030506	ankyrin binding
GO:0042802	identical protein binding
GO:0042805	actinin binding
GO:0043621	protein self-association
GO:0046872	metal ion binding
GO:0051015	actin filament binding
GO:0051371	muscle alpha-actinin binding

Biological Process

GO:0001701	in utero embryonic development
GO:0001756	somitogenesis
GO:0003007	heart morphogenesis
GO:0003300	cardiac muscle hypertrophy
GO:0006468	protein phosphorylation
GO:0006936	muscle contraction
GO:0007076	mitotic chromosome condensation
GO:0007507	heart development
GO:0007512	adult heart development
GO:0018108	peptidyl-tyrosine phosphorylation
GO:0030240	skeletal muscle thin filament assembly
GO:0030241	skeletal muscle myosin thick filament assembly
GO:0035023	regulation of Rho protein signal transduction
GO:0043056	forward locomotion
GO:0045214	sarcomere organization
GO:0045859	regulation of protein kinase activity
GO:0048739	cardiac muscle fiber development
GO:0048769	sarcomerogenesis
GO:0050790	regulation of catalytic activity
GO:0051592	response to calcium ion
GO:0055002	striated muscle cell development
GO:0055003	cardiac myofibril assembly
GO:0055008	cardiac muscle tissue morphogenesis
GO:0060048	cardiac muscle contraction
GO:1901897	regulation of relaxation of cardiac muscle

Cellular Component

GO:0000794	condensed nuclear chromosome
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005859	muscle myosin complex
GO:0005865	striated muscle thin filament
GO:0030017	sarcomere
GO:0030018	Z disc
GO:0031430	M band
GO:0031672	A band
GO:0031674	I band
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Homo sapiens

Gene ID

Gene Order

ENSG00000155657

View Gene Order

Pathways

NETPATH

REACTOME

REACT_230203

Platelet degranulation pathway

REACT_224553

Hemostasis pathway

REACT_232053

Striated Muscle Contraction pathway

REACT_224879

Platelet activation, signaling and aggregation pathway

REACT_262759

Muscle contraction pathway

REACT_206166

Response to elevated platelet cytosolic Ca2+ pathway

KEGG

mmu05410

Hypertrophic cardiomyopathy (HCM) pathway

mmu05414

Dilated cardiomyopathy pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

REACT_318

Platelet degranulation pathway

REACT_1280

Response to elevated platelet cytosolic Ca2+ pathway

REACT_16969

Striated Muscle Contraction pathway

REACT_798

Platelet activation, signaling and aggregation pathway

REACT_17044

Muscle contraction pathway

REACT_604

Hemostasis pathway

KEGG

hsa05410

Hypertrophic cardiomyopathy (HCM) pathway

hsa05414

Dilated cardiomyopathy pathway

INOH

PID NCI

Cross-References

SwissProt

A2ASS6

TrEMBL

A2AT61 A2AT63 Q3UT48 Q8BID4 Q8BUC9 Q8BUJ0 Q8BUJ6 Q8BUX4 Q8C139 Q8R4N1 Q9CTL3 Q9CV48

UniProt Splice Variant

Entrez Gene

22138

UniGene

Mm.373672 Mm.398923 Mm.398928 Mm.402907 Mm.446279 Mm.452281 Mm.453292 Mm.473358

RefSeq

NM_011652 NM_028004 XM_006499158

OMIM

CCDS

CCDS38154

HPRD

IMGT

MGI ID

MGI:98864

MGI Symbol

Ttn

EMBL

AF426843 AK003152 AK009648 AK029024 AK081896 AK084709 AK084780 AK085811 AK085832 AK139762 AL928681 AL928721 AL928789

GenPept

AAL84321 BAB22606 BAB26413 BAC26249 BAC38363 BAC39259 BAC39277 BAC39538 BAC39548 BAE24132 CAM23448 CAM23449 CAM23450 CAM24262 CAM24263 CAM27058 CAM27059 CAM27060

RNA Seq Atlas

102641264 22138