Extracellular Matrix Protein 1 (ECM1)

Secretory component p85

SPN	U398
HGNC	3153
MGI	103060
PubMed	12603844
RGD	620357
UniProt	Q16610
Wiki	ECM1

Extracellular matrix protein 1 is an extracellular protein containing motifs with a cysteine pattern characteristic of the cysteine pattern of the ligand-binding "double-loop" domains of the albumin protein family. This gene maps outside of the epidermal differentiation complex (EDC), a cluster of three gene families involved in epidermal differentiation. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Defects in ECM1 are the cause of lipoid proteinosis also known as lipoid proteinosis of Urbach and Wiethe or hyalinosis cutis et mucosae. LiP is a 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.

Reference

"The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization."
Genomics 45:487-495(1997) [PubMed] [Europe PMC] [Abstract]

"Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21."
Matrix Biol. 16:289-292(1997) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Recombinant human extracellular matrix protein 1 inhibits alkaline phosphatase activity and mineralization of mouse embryonic metatarsals in vitro."
Bone 28:14-20(2001) [PubMed] [Europe PMC] [Abstract]

"Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells."
FASEB J. 15:988-994(2001) [PubMed] [Europe PMC] [Abstract]

"Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)."
Hum. Mol. Genet. 11:833-840(2002) [PubMed] [Europe PMC] [Abstract]

"Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis."
J. Biol. Chem. 278:17491-17499(2003) [PubMed] [Europe PMC] [Abstract]

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

"Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions."
Exp. Dermatol. 15:300-307(2006) [PubMed] [Europe PMC] [Abstract]

"ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain."
Matrix Biol. 28:160-169(2009) [PubMed] [Europe PMC] [Abstract]

"A strategy for precise and large scale identification of core fucosylated glycoproteins."
Mol. Cell. Proteomics 8:913-923(2009) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation."
J. Invest. Dermatol. 120:345-350(2003) [PubMed] [Europe PMC] [Abstract]