InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-102124

extracellular matrix protein 1

IDBP-102126

extracellular matrix protein 1

IDBP-102128

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

ENSMUSG00000028108

View Gene Order

Ortholuge

SSD Ortholog

Ortholog supports species divergence

ENSBTAG00000003806

Not yet available

Ortholuge

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