Extracellular matrix protein 1 (ECM1) This family consists of several eukaryotic extracellular matrix protein 1 (ECM1) sequences. ECM1 has been shown to regulate endochondral bone formation, stimulate the proliferation of endothelial cells and induce angiogenesis. Mutations in the ECM1 gene can cause lipoid proteinosis, a disorder which causes generalised thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness.
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 SLCterminus) with HSPG2 (via SLCterminus). 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:
Lipoid proteinosis (LiP) [MIM:247100]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
SWISS:
Q16610
Gene ID:
1893
Database links:
Entrez Gene: 1893
Human
Entrez Gene: 1721 Mouse
Entrez Gene: 116662 Rat
GenBank: NP_073155 Human
Omim: 602201 Human
SwissProt: Q16610 Human
SwissProt: Q61508 Mouse
SwissProt: Q62894 Rat
Unigene: 81071 Human
Unigene: 97792 Rat
ECM1是一种分泌性糖蛋白，ECM1可促进血管内皮细胞的增殖和血管的生成, 经研究发现，ECM1的表达可能与肿瘤及肿瘤的转移有关联, 而目前在多种肿瘤的研究中也已确认细胞外基质与肿瘤的发生、发展及转移等有密切的关系, ECM1是目前肿瘤研究的热点。
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