ID:ECM1_HUMAN DESCRIPTION: RecName: Full=Extracellular matrix protein 1; AltName: Full=Secretory component p85; Flags: Precursor; FUNCTION: Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity. SUBUNIT: Interacts (via C-terminus) with HSPG2 (via C-terminus). Interacts with EFEMP1/FBLN3 and LAMB3. Interacts with MMP9. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. TISSUE SPECIFICITY: Expressed in breast cancer tissues. Little or no expression observed in normal breast tissues. Expressed in skin; wide expression is observed throughout the dermis with minimal expression in the epidermis. DISEASE: Defects in ECM1 are the cause of lipoid proteinosis (LiP) [MIM:247100]; also known as lipoid proteinosis of Urbach and Wiethe or hyalinosis cutis et mucosae. LiP is a rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q16610
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001503 ossification GO:0001525 angiogenesis GO:0001938 positive regulation of endothelial cell proliferation GO:0001960 negative regulation of cytokine-mediated signaling pathway GO:0002576 platelet degranulation GO:0002828 regulation of type 2 immune response GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006954 inflammatory response GO:0007165 signal transduction GO:0010466 negative regulation of peptidase activity GO:0030500 regulation of bone mineralization GO:0030502 negative regulation of bone mineralization GO:0031214 biomineral tissue development GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0045766 positive regulation of angiogenesis GO:2000404 regulation of T cell migration
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
