ECM1

GENE INFORMATION

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Gene name

ECM1

Synonyms

Description

Extracellular matrix protein 1 (HGNC Symbol)

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]

Chromosome

1

Cytoband

q21.2

Chromosome location (bp)

150508062 - 150513789

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000143369 (version 78.38)

Entrez gene

1893

UniProt

Q16610 (UniProt - Evidence at protein level)

neXtProt

NX_Q16610

Antibodypedia

ECM1 antibodies
 

PROTEIN VIEW

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ECM1-011
 
ECM1-012
 
ECM1-013
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ECM1-011 ENSP00000358043
ENST00000369047
Q16610
Show all »
Show » Show » 540 60.7 Yes 0
ECM1-012 ENSP00000358045
ENST00000369049
Q16610
Show all »
Show » Show » 567 63.6 Yes 0
ECM1-013 ENSP00000271630
ENST00000346569
Q16610
Show all »
Show » Show » 415 46.1 Yes 0