ECM1
Summary: This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
extracellular matrix protein 1 | MIM:602201 | Ensembl:ENSG00000143369 | HGNC:HGNC:3153 | PA27598 | 1q21.2 |
GO terms in ECM1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IPI | GO:0002020 | protease binding |
MF | IEA | GO:0005134 | interleukin-2 receptor binding |
MF | IPI | GO:0005515 | protein binding |
MF | IPI | GO:0008022 | protein C-terminus binding |
MF | IPI | GO:0019899 | enzyme binding |
MF | IPI | GO:0043236 | laminin binding |
CC | TAS | GO:0005576 | extracellular region |
CC | IDA | GO:0031012 | extracellular matrix |
CC | NAS | GO:0031012 | extracellular matrix |
CC | TAS | GO:0031089 | platelet dense granule lumen |
CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
CC | HDA | GO:0070062 | extracellular exosome |
BP | IEA | GO:0001503 | ossification |
BP | IEA | GO:0001525 | angiogenesis |
BP | IDA | GO:0001938 | positive regulation of endothelial cell proliferation |
BP | IEA | GO:0001960 | negative regulation of cytokine-mediated signaling pathway |
BP | TAS | GO:0002576 | platelet degranulation |
BP | IEA | GO:0002828 | regulation of type 2 immune response |
BP | IEA | GO:0006357 | regulation of transcription by RNA polymerase II |
BP | IEA | GO:0006954 | inflammatory response |
BP | IEA | GO:0007165 | signal transduction |
BP | IDA | GO:0010466 | negative regulation of peptidase activity |
BP | IDA | GO:0030502 | negative regulation of bone mineralization |
BP | IEA | GO:0031214 | biomineral tissue development |
BP | HMP | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling |
BP | IDA | GO:0045766 | positive regulation of angiogenesis |
BP | IEA | GO:2000404 | regulation of T cell migration |
Gene expression in normal tissue: ECM1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ECM1
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-109582 | Hemostasis |
reactome | R-HSA-114608 | Platelet degranulation |
reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
reactome | R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD77 | Itraconazole | 2 |
iGMDRD231 | Importazole | 3 |
iGMDRD188 | Piperlongumine | 3 |
iGMDRD871 | BRD6368 | 3 |
iGMDRD286 | Nsc 632839 | 4 |
iGMDRD399 | Selumetinib | 3 |
iGMDRD577 | BIX01294 | 4 |
iGMDRD888 | Compound 44 | 6 |
iGMDRD562 | Navitoclax | 1 |
iGMDRD398 | Sepantronium | 2 |
iGMDRD505 | Pevonedistat | 3 |
iGMDRD300 | Tozasertib | 3 |
iGMDRD886 | Compound 1541A | 2 |
iGMDRD60 | Quinoclamine | 3 |
iGMDRD126 | Tipifarnib | 1 |
iGMDRD387 | CHIR-99021 | 1 |
iGMDRD889 | Compound 7d-cis | 3 |
iGMDRD248 | BRD4354 | 1 |
iGMDRD420 | Leucascandrolide A | 2 |
iGMDRD150 | RITA | 4 |
iGMDRD144 | NSC95397 | 4 |
iGMDRD427 | ABT737 | 1 |
iGMDRD781 | Sirolimus | 2 |
iGMDRD79 | Gemcitabine | 3 |
iGMDRD446 | LY 2183240 | 2 |
iGMDRD341 | Triacsin c | 4 |
iGMDRD718 | Pyrvinium pamoate | 1 |
iGMDRD152 | 179324-69-7 | 3 |
iGMDRD466 | Chaetocin | 1 |
iGMDRD154 | NSC23766 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ECM1