Extracellular Matrix Protein 1

Alternative Names

  • ECM1
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OMIM Number

602201

NCBI Gene ID

1893

Uniprot ID

Q16610

Length

5,779 bases

No. of Exons

10

No. of isoforms

4

Protein Name

Extracellular Matrix Protein 1

Molecular Mass

60674 Da

Amino Acid Count

540

Genomic Location

chr1:150,508,011-150,513,789

Gene Map Locus
1q21

Description

Extracellular matrix protein 1 (ECM1) is a glycoprotein that was first discovered in 1994. This protein was initially designated 'p85' based on its size, but was also named ECM1 because of its association with various other connective tissue proteins including type 1 collagen, osteonectin, cathepsin and sialo bone protein. It has been shown to have several important biological functions. It is plausible that the protein may help in maintaining dermal homeostasis, regulating basement membrane and collagen micro-fibril assembly, and binding of growth factor.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
ECM1, 1163-BP DELSaudi ArabiaPathogenicPathogenicLipoid Proteinosis of Urbach and Wiethe7473
NM_004425.4:c.1019delAKuwaitNC_000001.11:g.150511767delLikely Pathogenic, PathogenicPathogenicLipoid Proteinosis of Urbach and WietheNG_012062.1:g.8757delA; NM_004425.4:c.1019delA; NP_004416.2:p.Gln340ArgfsTer377784737137471
NM_004425.4:c.121+1G>CLebanonNC_000001.11:g.150509582G>CPathogenicLipoid Proteinosis of Urbach and WietheNG_012062.1:g.6572G>C; NM_004425.4:c.121+1G>C
NM_004425.4:c.1300_1301delAASaudi Arabiachr1:150512568-150512569PathogenicLipoid Proteinosis of Urbach and WietheNG_012062.1:g.9558_9559delAA; NM_004425.4:c.1300_1301delAA
NM_004425.4:c.389C>TLebanonNC_000001.11:g.150510879C>TBenignLikely PathogenicLipoid Proteinosis of Urbach and WietheNG_012062.1:g.7869C>T; NM_004425.4:c.389C>T; NP_004416.2:p.Thr130Met37372401222321
NM_004425.4:c.70+1G>CPalestinechr1:150508280PathogenicLipoid Proteinosis of Urbach and WietheNG_012062.1:g.5270G>C; NM_004425.4:c.70+1G>C1429863804
NM_004425.4:c.806G>ASaudi ArabiaNC_000001.11:g.150511554G>APathogenicPathogenicLipoid Proteinosis of Urbach and WietheNG_012062.1:g.8544G>A; NM_004425.4:c.806G>A; NP_004416.2:p.Cys269Tyr7569774751192520
NM_004425.4:c.93_94delinsTTLibyachr1:150509553-150509554PathogenicPathogenicLipoid Proteinosis of Urbach and WietheNG_012062.1:g.6543_6544delinsTT; NM_004425.4:c.93_94delinsTT; NP_004416.2:p.Arg31_Gln32delinsSerTer869025567222949
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