Homo sapiens Protein: ECM1
Summary
InnateDB Protein IDBP-102124.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ECM1
Protein Name extracellular matrix protein 1
Synonyms URBWD;
Species Homo sapiens
Ensembl Protein ENSP00000358045
InnateDB Gene IDBG-102122 (ECM1)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:11165938, ECO:0000269PubMed:11292659, ECO:0000269PubMed:16512877}.
Subcellular Localization Secreted, extracellular space, extracellular matrix.
Disease Associations 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. {ECO:0000269PubMed:11929856, ECO:0000269PubMed:12603844}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269PubMed:11292659, ECO:0000269PubMed:12604605}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0004871 signal transducer activity
GO:0005134 interleukin-2 receptor binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0019899 enzyme binding
GO:0043236 laminin binding
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: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: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
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 IPR008605 Extracellular matrix 1
IPR020858 Serum albumin-like
PFAM PF05782
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q16610
PhosphoSite PhosphoSite-Q16610
TrEMBL
UniProt Splice Variant
Entrez Gene 1893
UniGene Hs.81071
RefSeq NP_001189787
HUGO HGNC:3153
OMIM 602201
CCDS CCDS55632
HPRD 03727
IMGT
EMBL AK097046 AK292435 AK301369 AK302279 AL356356 BC023505 CH471121 U65932 U65933 U65934 U65935 U65936 U65937 U65938 U68186 U68187
GenPept AAB05933 AAB05934 AAB88081 AAB88082 AAH23505 BAF85124 BAG53412 BAG62911 BAG63622 CAI15491 CAI15492 CAI15493 EAW53544 EAW53545 EAW53546