The Human Extracellular Matrix Gene 1 (ECM1): Genomic Structure, cDNA Cloning, Expression Pattern, and Chromosomal Localization

Smits, Patrick; Ni, Jian; Feng, Ping; Wauters, J.; Hul, Wim Van; Boutaibi, Mohamed El; Dillon, Patrick; Merregaert, J.

doi:10.1006/geno.1997.4918

Cited by 93 publications

(128 citation statements)

References 15 publications

Supporting

Mentioning

121

Contrasting

Unclassified

Order By: Relevance

“…1A) [2,3]. The protein harbours abundant cysteine residues (4.8%) with a typical arrangement distributed according to the CC-(X [7][8][9][10] )-C pattern of six cysteine doublets [2].…”

Section: Structure Of Ecm1mentioning

confidence: 99%

“…The human ECM1 gene maps to a region on chromosome 1q21.2 centromeric to a gene cluster generally known as the epidermal differentiation complex, showing a remarkable density of genes that fulfil important functions in epidermal differentiation [3][4][5]43]. The expression of ECM1a was found in the epidermal basal layer, in dermal blood vessels, the outer root sheath of hair follicles and in sebaceous lobules and epithelium of sweat glands, while ECM1b was expressed in the suprabasal layers of the epidermis.…”

Section: Ecm1 Is Not Essential For Epidermal Differentiationmentioning

confidence: 99%

“…After cloning of the ECM1 gene in 1997 [3], its expression in human tissues and its role in human diseases such as LiP and lichen sclerosus has been demonstrated [5,23,24]. However, the underlying mechanisms through which the ECM1 mutations lead to a warty epidermal thickening, scarring and dermal hyalinosis are not well understood.…”

Section: Ecm1 Plays An Important Role In the Maintenance Of The Dermamentioning

confidence: 99%

“…The human ECM1 gene is located on chromosome 1q21.2 [3,4] and encodes for four splice variants (Fig. 1A).…”

Section: Introductionmentioning

confidence: 99%

“…1A). ECM1a (1.8kb, 540 aa) contains 10 exons and is expressed in liver, small intestines, lung, ovary, prostate, testis, skeletal muscle, pancreas, kidney, placenta, heart, basal keratinocytes, dermal blood vessels and adnexal epithelia including hair follicles and glands [3,[5][6][7]. ECM1b (1.4kb, 415 aa), which lacks exon 7, is detected in tonsils and the spinous and granular layers of the epidermis [5].…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Importance of Extracellular Matrix Protein 1 (ECM1) in Maintaining the Functional Integrity of the Human Skin

Sercu¹,

Oyama²,

Merregaert³

2009

TODJ

Self Cite

View full text Add to dashboard Cite

Abstract:The extracellular matrix protein 1 (ECM1) is an 85 kDa glycoprotein first identified in 1994. The threedimensional structure of ECM1 based on the third serum albumin domain was determined by in silico modelling in order to predict the most important binding site(s) of ECM1 with other protein partners in human skin. ECM1 consists of four domains: a first domain existing of -helices ( D1), the serum albumin subdomain-like (SASDL) domain 2, the sequence homology comparable with the first subdomain of the third serum albumin domain, SASDL3 and SASDL4, resulting in four "finger-like" structures ideal for binding with different proteins. A role for ECM1 was proposed in endochondral bone formation, angiogenesis and skin differentiation. Increased evidence has emerged for a pivotal biological function of ECM1 in human skin; loss of function mutations in the ECM1 gene causes the autosomal recessive genodermatosis lipoid proteinosis and auto-antibodies against ECM1 in the auto-immune disease lichen sclerosus, sharing comparable skin pathology in the affected lesions. ECM1 is capable of binding variable skin structural and extracellular matrix molecules like perlecan, laminin 332, fibulin-1C/D, fibulin-3 and heparin, as well as dermal interstitial molecules like MMP-9, collagen type IV, fibronectin, hyaluronic acid and chondroitin sulphate. In this way, ECM1 could be one of the proteins capable of connecting the basolateral surface of the epidermis through the basement membrane to the underlying dermis, which suggest a role for ECM1 as "biological glue" in maintaining skin integrity and function.

show abstract

“…1A) [2,3]. The protein harbours abundant cysteine residues (4.8%) with a typical arrangement distributed according to the CC-(X [7][8][9][10] )-C pattern of six cysteine doublets [2].…”

Section: Structure Of Ecm1mentioning

confidence: 99%