Homo sapiens Gene: ECM1
Summary
InnateDB Gene IDBG-102122.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ECM1
Gene Name extracellular matrix protein 1
Synonyms URBWD;
Species Homo sapiens
Ensembl Gene ENSG00000143369
Encoded Proteins
extracellular matrix protein 1
extracellular matrix protein 1
extracellular matrix protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:150508062-150513789
Strand Forward strand
Band q21.2
Transcripts
ENST00000369049 ENSP00000358045
ENST00000346569 ENSP00000271630
ENST00000369047 ENSP00000358043
ENST00000470432
ENST00000498579
ENST00000496744
ENST00000490346
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q16610
TrEMBL C8CHS3
UniProt Splice Variant
Entrez Gene 1893
UniGene Hs.81071
RefSeq NM_001202858 NM_004425 NM_022664
HUGO HGNC:3153
OMIM 602201
CCDS CCDS55632 CCDS953 CCDS954
HPRD
IMGT
EMBL AK097046 AK292435 AK301369 AK302279 AL356356 BC023505 CH471121 GQ404379 U65932 U65933 U65934 U65935 U65936 U65937 U65938 U68186 U68187
GenPept AAB05933 AAB05934 AAB88081 AAB88082 AAH23505 ACV13189 BAF85124 BAG53412 BAG62911 BAG63622 CAI15491 CAI15492 CAI15493 EAW53544 EAW53545 EAW53546
RNA Seq Atlas 1893