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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ECM1
extracellular matrix protein 1
Chromosome 1 · 1q21.2
NCBI Gene: 1893Ensembl: ENSG00000143369.16HGNC: HGNC:3153UniProt: A0A140VJI7
132PubMed Papers
21Diseases
0Drugs
32Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protease bindingprotein bindingpositive regulation of endothelial cell proliferationnegative regulation of peptidase activitylipoid proteinosisgenetic disordermultisite chronic painosteoarthritis
✦AI Summary

ECM1 (extracellular matrix protein 1) is a multifunctional extracellular matrix protein with primary roles in tissue homeostasis and inflammatory regulation. Mechanistically, ECM1 stabilizes latent transforming growth factor-β1 (TGF-β1) through interactions with αv integrins and inhibits its activation by binding thrombospondins and ADAMTS proteases via their KRFK/KTFR motifs 12. ECM1 also suppresses matrix metalloproteinase-2/9 proteolytic activity 2 and regulates macrophage M1 polarization through granulocyte-macrophage colony-stimulating factor/STAT5 signaling 3. Clinically, ECM1 deficiency causes spontaneous hepatic fibrosis and requires early therapeutic intervention 1. ECM1 expression inversely correlates with liver fibrosis severity in chr1 liver disease patients 12. The protein protects against metabolic dysfunction-associated steatotic liver disease by maintaining iron homeostasis via PCBP1 interaction 4. ECM1 also suppresses anti-androgen resistance in bone metastatic prostate cancer through ENO1 receptor signaling 5, and its downregulation alleviates inflammatory kidney disease 6. Genetically, ECM1 mutations cause lipoid proteinosis, a rare autosomal recessive disorder featuring skin infiltration, neuropsychiatric abnormalities, and amygdala calcifications 7. Mendelian randomization analysis suggests ECM1 elevation may exacerbate aging processes 8.

Sources cited
1
Mechanistically, ECM1 stabilizes latent transforming growth factor-β1 (TGF-β1) through interactions with αv integrins and inhibits its activation by binding thrombospondins and ADAMTS proteases via their KRFK/KTFR motifs , .
PMID: 39448254
2
ECM1 also suppresses matrix metalloproteinase-2/9 proteolytic activity and regulates macrophage M1 polarization through granulocyte-macrophage colony-stimulating factor/STAT5 signaling .
PMID: 31980528
3
Mechanistically, ECM1 stabilizes latent transforming growth factor-β1 (TGF-β1) through interactions with αv integrins and inhibits its activation by binding thrombospondins and ADAMTS proteases via their KRFK/KTFR motifs , .
PMID: 31362006
4
The protein protects against metabolic dysfunction-associated steatotic liver disease by maintaining iron homeostasis via PCBP1 interaction .
PMID: 40372944
5
ECM1 also suppresses anti-androgen resistance in bone metastatic prostate cancer through ENO1 receptor signaling , and its downregulation alleviates inflammatory kidney disease .
PMID: 39563492
6
ECM1 also suppresses anti-androgen resistance in bone metastatic prostate cancer through ENO1 receptor signaling , and its downregulation alleviates inflammatory kidney disease .
PMID: 39494325
7
Genetically, ECM1 mutations cause lipoid proteinosis, a rare autosomal recessive disorder featuring skin infiltration, neuropsychiatric abnormalities, and amygdala calcifications .
PMID: 26564090
8
Mendelian randomization analysis suggests ECM1 elevation may exacerbate aging processes .
PMID: 38572516
Disease Associationsⓘ21
lipoid proteinosisOpen Targets
0.78Strong
genetic disorderOpen Targets
0.19Weak
multisite chronic painOpen Targets
0.19Weak
osteoarthritisOpen Targets
0.19Weak
chronic musculoskeletal painOpen Targets
0.16Weak
aortic aneurysmOpen Targets
0.15Weak
Hip painOpen Targets
0.13Weak
autismOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
insomniaOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
atopic eczemaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
van der Woude syndromeOpen Targets
0.08Suggestive
Varicose veinsOpen Targets
0.08Suggestive
Hepatic fibrosisOpen Targets
0.08Suggestive
circadian rhythmOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
Lipoid proteinosisUniProt
Pathogenic Variants32
NM_004425.4(ECM1):c.760C>T (p.Arg254Ter)Pathogenic
not provided|Lipid proteinosis
★★☆☆2026→ Residue 254
NM_004425.4(ECM1):c.233del (p.Pro78fs)Pathogenic
Lipid proteinosis|not provided|ECM1-related disorder
★★☆☆2024→ Residue 78
NM_004425.4(ECM1):c.1246C>T (p.Arg416Ter)Pathogenic
Lipid proteinosis
★★☆☆2024→ Residue 416
NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr)Pathogenic
Lipid proteinosis
★★☆☆2024→ Residue 269
NM_004425.4(ECM1):c.157C>T (p.Arg53Ter)Pathogenic
Lipid proteinosis|not provided
★★☆☆2024→ Residue 53
NM_004425.4(ECM1):c.18_22dup (p.Ala8fs)Pathogenic
Lipid proteinosis
★☆☆☆2025→ Residue 8
NM_004425.4(ECM1):c.607_613dup (p.Arg205fs)Pathogenic
not provided
★☆☆☆2025→ Residue 205
NM_004425.4(ECM1):c.1441C>T (p.Arg481Ter)Pathogenic
Lipid proteinosis|not provided
★☆☆☆2025→ Residue 481
NM_004425.4(ECM1):c.68G>T (p.Gly23Val)Likely pathogenic
not provided|Gastric cancer
★☆☆☆2025→ Residue 23
NM_004425.4(ECM1):c.49_52del (p.Ala17fs)Likely pathogenic
Lipid proteinosis
★☆☆☆2024→ Residue 17
NM_004425.4(ECM1):c.1304+33_*300delPathogenic
Lipid proteinosis
★☆☆☆2024
NM_004425.4(ECM1):c.1077G>A (p.Trp359Ter)Pathogenic
Lipid proteinosis
★☆☆☆2024→ Residue 359
NM_004425.4(ECM1):c.1051C>T (p.Gln351Ter)Likely pathogenic
Lipid proteinosis
★☆☆☆2024→ Residue 351
NM_004425.4(ECM1):c.507del (p.Arg171fs)Pathogenic
Lipid proteinosis|ECM1-related disorder
★☆☆☆2023→ Residue 171
NM_004425.4(ECM1):c.240_241del (p.Gln81fs)Likely pathogenic
ECM1-related disorder
★☆☆☆2023→ Residue 81
NM_004425.4(ECM1):c.1450_1454del (p.Ala484fs)Pathogenic
Lipid proteinosis
★☆☆☆2022→ Residue 484
NM_004425.4(ECM1):c.542_543insAACCAAATCTGAA (p.Cys181Ter)Pathogenic
Lipid proteinosis
★☆☆☆2022→ Residue 181
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)Likely pathogenic
Lipid proteinosis
★☆☆☆2022→ Residue 167
NM_004425.4(ECM1):c.1209_1210insTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTTCC (p.Asn404Ter)Pathogenic
Lipid proteinosis
★☆☆☆2022→ Residue 404
NM_004425.4(ECM1):c.1287_1288del (p.Arg430fs)Pathogenic
Lipid proteinosis
★☆☆☆2022→ Residue 430
View on ClinVar ↗
Related Genes
HSPG2Protein interaction100%MMP9Protein interaction100%EFEMP1Protein interaction96%FN1Protein interaction75%TIMP3Protein interaction73%AGGF1Shared pathway29%
Tissue Expression6 tissues
Liver
100%
Heart
96%
Lung
59%
Ovary
21%
Brain
13%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
ECM1HSPG2MMP9EFEMP1FN1TIMP3AGGF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q16610
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.68–1.05]
RankingsWhere ECM1 stands among ~20K protein-coding genes
  • #3,520of 20,598
    Most Researched132 · top quartile
  • #1,750of 5,498
    Most Pathogenic Variants32
  • #10,519of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedECM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ECM1 Prevents Activation of Transforming Growth Factor β, Hepatic Stellate Cells, and Fibrogenesis in Mice.
PMID: 31362006
Gastroenterology · 2019
1.00
2
ECM1 protects against liver steatosis through PCBP1-mediated iron homeostasis.
PMID: 40372944
Hepatology · 2026
0.90
3
ECM1 is an essential factor for the determination of M1 macrophage polarization in IBD in response to LPS stimulation.
PMID: 31980528
Proc Natl Acad Sci U S A · 2020
0.80
4
Osteoblast-Derived ECM1 Promotes Anti-Androgen Resistance in Bone Metastatic Prostate Cancer.
PMID: 39563492
Adv Sci (Weinh) · 2025
0.70
5
Identification of prospective aging drug targets via Mendelian randomization analysis.
PMID: 38572516
Aging Cell · 2024
0.60