InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COMP

Summary

InnateDB Protein

IDBP-38818.6

Last Modified

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

Gene Symbol

COMP

Protein Name

cartilage oligomeric matrix protein

Synonyms

EDM1; EPD1; MED; PSACH; THBS5;

Species

Homo sapiens

Ensembl Protein

ENSP00000222271

InnateDB Gene

IDBG-38816 (COMP)

Protein Structure

UniProt Annotation

Function

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 (By similarity). {ECO:0000250}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix.

Disease Associations

Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269PubMed:11565064, ECO:0000269PubMed:21922596, ECO:0000269PubMed:7670472, ECO:0000269PubMed:9021009, ECO:0000269PubMed:9184241, ECO:0000269PubMed:9452026, ECO:0000269PubMed:9463320, ECO:0000269PubMed:9921895}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pseudoachondroplasia (PSACH) [MIM:177170]: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease. {ECO:0000269PubMed:11746044, ECO:0000269PubMed:11746045, ECO:0000269PubMed:21922596, ECO:0000269PubMed:7670471, ECO:0000269PubMed:7670472, ECO:0000269PubMed:9184241, ECO:0000269PubMed:9452026, ECO:0000269PubMed:9452063, ECO:0000269PubMed:9463320}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:16542502}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0002020	protease binding
GO:0005201	extracellular matrix structural constituent
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0005518	collagen binding
GO:0008201	heparin binding
GO:0043395	heparan sulfate proteoglycan binding

Biological Process

GO:0001501	skeletal system development
GO:0003417	growth plate cartilage development
GO:0006915	apoptotic process
GO:0007155	cell adhesion
GO:0009887	organ morphogenesis
GO:0030198	extracellular matrix organization
GO:0043066	negative regulation of apoptotic process
GO:0060173	limb development

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
IPR003367 Thrombospondin, type 3-like repeat
IPR008859 Thrombospondin, C-terminal
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR024665 Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain
IPR028974 TSP type-3 repeat

PFAM

PF00008
PF07645
PF02412
PF05735
PF11598

PRINTS

PIRSF

SMART

SM00181
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P49747