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GENE AND PROTEIN SUMMARY

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Gene name

TTN

Description

titin

Protein class

Enzymes, Kinases, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

High

Entrez gene summary

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

14 in total
1 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Golgi apparatus

Additional location(s)

Nucleus but not nucleoli, Cytoplasm 

Staining summary

Localized to the nucleus, cytoplasm and Golgi apparatus.

Reliability (APE)

Medium

Antibodies in assay

HPA007042, CAB022682
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression mainly in heart and skeletal muscle.

Tissue specificity

Expressed in 33 out of 81 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA007042, CAB022682
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 41% of the cancers

Antibodies in assay

HPA007042, CAB022682
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA007042

CAB022682

HPA007042

CAB022682

A-431 Skin Low
ModerateNegative
A-549 Lung Low
CACO-2 Colon Low
HEK 293 Embryonal kidney Low
HeLa Cervix Low
Hep-G2 Liver Low
MCF-7 Pleural effusion Low
PC-3 Bone marrow Low
RT-4 Urinary bladder Low
U-2 OS Bone Low
ModerateNegative
U-251 MG Brain Low
ModerateNegative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA007042 pAb
CAB022682 mAb