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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]
ECM1 (Extracellular Matrix Protein 1) is a Protein Coding gene. Diseases associated with ECM1 include Lipoid Proteinosis Of Urbach And Wiethe and Lichen Sclerosus Et Atrophicus. Among its related pathways are Integrin Pathway and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein C-terminus binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 16512877 |
GO:0005134 | interleukin-2 receptor binding | IEA | -- |
GO:0005201 | extracellular matrix structural constituent | RCA | 25037231 |
GO:0005515 | protein binding | IPI | 19275936 |
GO:0008022 | protein C-terminus binding | IPI | 12604605 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
GO:0031012 | extracellular matrix | TAS,NAS | 9367673 |
GO:0031089 | platelet dense granule lumen | TAS | -- |
GO:0062023 | collagen-containing extracellular matrix | HDA,IDA | 20870722 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
3 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
4 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
5 | Cell adhesion_Cell-matrix glycoconjugates |
Cell adhesion_Cell-matrix glycoconjugates
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001503 | ossification | IEA | -- |
GO:0001525 | angiogenesis | IEA | -- |
GO:0001938 | positive regulation of endothelial cell proliferation | IDA | 11292659 |
GO:0001960 | negative regulation of cytokine-mediated signaling pathway | IEA | -- |
GO:0002063 | chondrocyte development | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ECM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ECM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ECM1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ecm1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ecm1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ECM1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ECM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ecm1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ECM1 (2 of 2) 31 |
|
OneToMany | |
ecm1b 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709803 | Benign: not provided | 150,512,510(+) | C/T | SYNONYMOUS_VARIANT | |
711736 | Benign: not provided | 150,512,422(+) | G/A | MISSENSE_VARIANT | |
729430 | Benign: not provided | 150,513,392(+) | C/T | SYNONYMOUS_VARIANT | |
736513 | Likely Benign: not provided | 150,509,980(+) | C/T | SYNONYMOUS_VARIANT | |
737232 | Benign: not provided | 150,512,763(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1006838 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lipoid proteinosis of urbach and wiethe |
|
|
lichen sclerosus et atrophicus |
|
|
balanitis xerotica obliterans |
|
|
joubert syndrome 31 |
|
|
urethral syndrome |
|
|