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P49747 Proteins EGF-like domain Repeats
Uniprot ID:P49747
Protein name: Cartilage oligomeric matrix protein
Gene : COMP
Protein Family:Thrombospondin family
Squence Length : 757
Sequnce
>P49747 758 MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQQSVRTGLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSGPTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRAQRFCPDGSPSECHEHADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDGVPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPNSDQKDSDGDGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPTVPNSAQEDSDHDGQGDACDDDDDNDGVPDSRDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREIVQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAVKSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGGRLGVFCFSQENIIWANLRYRCNDTIPEDYETHQLRQA
Domains
DOMAIN 87 126 EGF-like 1 DOMAIN 127 179 EGF-like 2 calcium-binding DOMAIN 180 222 EGF-like 3 calcium-binding DOMAIN 225 267 EGF-like 4 DOMAIN 532 746 TSP C-terminal
EGF-like sequence regions
87 - 126 LHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDV 127 - 179 NECNAHPCFPRVRCINTSPGFRCEACPPGYSGPTHQGVGLAFAKANKQVCTDI 180 - 222 NECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRR 225 - 267 RFCPDGSPSECHEHADCVLERDGSRSCVCAVGWAGNGILCGRD
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)"
Motifs
MOTIF 367 369 Cell attachment site
Disease
"DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: 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 Note=The disease is caused by mutations affecting the gene represented in this entry"