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  3. COMP

COMP (Cartilage oligomeric matrix protein)

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Summary of COMP

The COMP gene encodes the COMP protein, which help play a role in bone formation. It may also play a role in cell growth and division, programmed cell death, and regulating cell movement (R). 

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The Function of COMP

May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7.

Protein names

Recommended name:

Cartilage oligomeric matrix protein

Short name:

COMP

Alternative name(s):

Thrombospondin-5
TSP5

COMP SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS28936368 (COMP) ??

Top Gene-Substance Interactions

Substances That Increase COMP

Substances Interaction Organism Category

Substances That Decrease COMP

Substances Interaction Organism Category

Advanced Summary

     multiple epiphyseal dysplasia More than 20 mutations in the COMP gene that cause dominant multiple epiphyseal dysplasia have been identified. This disorder can also be caused by mutations in four other genes; however, the majority of individuals have mutations in the COMP gene. Mutations in the COMP gene that cause dominant multiple epiphyseal dysplasia change one protein building block (amino acid) or result in small additions or deletions of amino acids in the COMP protein. All identified mutations have occurred in two regions of the COMP protein, which are referred to as the type III and C-terminal domains. COMP mutations lead to the improper folding of the COMP protein in the endoplasmic reticulum, a structure in the cell involved in protein processing and transport. The abnormal COMP protein is unable to leave the endoplasmic reticulum, which causes this cellular structure to enlarge. The endoplasmic reticulum eventually becomes so large that it is no longer able to function normally, and the chondrocyte dies. The premature death of chondrocytes results in diminished growth of the long bones and short stature. Researchers believe that the lack of COMP protein in the spaces between the chondrocytes leads to the formation of abnormal cartilage. This abnormal cartilage probably breaks down easily, which results in early-onset osteoarthritis. pseudoachondroplasia About 60 mutations in the COMP gene have been identified in individuals with pseudoachondroplasia. One particular mutation is found in approximately 30 percent of affected individuals. This mutation results in the deletion of a single amino acid, called aspartic acid, in the COMP protein. This gene mutation is usually written as 469delD or D469del. Most other COMP gene mutations involve the substitution of one amino acid for another amino acid in the COMP protein. Mutations in the COMP gene that cause pseudoachondroplasia also result in the buildup of COMP protein in the endoplasmic reticulum and eventual chondrocyte death. It is not clear why some mutations in the COMP gene cause pseudoachondroplasia and other mutations cause dominant multiple epiphyseal dysplasia.

     The COMP gene provides the instructions for making the COMP protein. This protein is found in the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, the COMP protein is located in the extracellular matrix surrounding the cells that make up ligaments and tendons, and near cartilage-forming cells (chondrocytes). Chondrocytes play an important role in bone formation (osteogenesis). In the bones of the spine, hips, and limbs, the process of osteogenesis starts with the formation of cartilage, which is then converted into bone. The normal function of the COMP protein is not fully known. It is believed to play a role in cell growth and division (proliferation) and the self-destruction of cells (apoptosis), as well as in the regulation of cell movement and attachment. Research has also shown that the COMP protein binds strongly to calcium .

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • Sp1
  • p300

Tissue specificity:

Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the area adjacent to the main defect.

Gene Pathways:

  • TGF-beta signaling pathway
  • Extracellular matrix organization
  • Malaria
  • Phagosome

Developmental stage:

Present during the earliest stages of limb maturation and is later found in regions where the joints develop.

Cofactor:

Binds 11-14 calcium ions per subunit.

Molecular Function:

  • Calcium Ion Binding
  • Collagen Binding
  • Extracellular Matrix Structural Constituent
  • Heparan Sulfate Proteoglycan Binding
  • Heparin Binding
  • Protease Binding

Biological Processes:

  • Animal Organ Morphogenesis
  • Apoptotic Process
  • Cell Adhesion
  • Extracellular Matrix Organization
  • Growth Plate Cartilage Development
  • Limb Development
  • Negative Regulation Of Apoptotic Process
  • Skeletal System Development
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| MED| AS27_02369| AS28_10225| cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)| CB1_000878018| EDM1| epd1| H920_16009| I79_005088| M959_10457| N300_07785| N301_02758| N302_05466| N303_15330| N305_04288| N306_01037| N307_05757| N308_00786| N309_05294| N310_00867| N311_09260| N312_09692| N320_04327| N322_02835| N324_10062| N326_02894| N327_02117| N328_05094| N329_11495| N330_02270| N332_05839| N333_02126| N334_07312| N335_12808| N336_06371| N339_06811| N340_14133| PAL_GLEAN10006702| PANDA_000564| PSACH| pseudoachondroplasia (epiphyseal dysplasia 1, multiple)| putative cartilage oligomeric matrix protein| thbs5| thrombospondin 4| thrombospondin 5| thrombospondin-5| TREES_T100014719| Tsp-4b| TSP5| UY3_18725| Y1Q_024320| Y956_15533| Z169_12926| comp

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