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Aliases for ECM1 Gene

Aliases for ECM1 Gene

  • Extracellular Matrix Protein 1 2 3
  • Secretory Component P85 3 4
  • URBWD 3 6

External Ids for ECM1 Gene

Previous GeneCards Identifiers for ECM1 Gene

  • GC01P148322
  • GC01P146227
  • GC01P147255
  • GC01P147697
  • GC01P147293
  • GC01P148747
  • GC01P150480
  • GC01P121858

Summaries for ECM1 Gene

Entrez Gene Summary for ECM1 Gene

  • 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]

GeneCards Summary for ECM1 Gene

ECM1 (Extracellular Matrix Protein 1) is a Protein Coding gene. Diseases associated with ECM1 include urbach-wiethe disease and lichen sclerosus. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include signal transducer activity and protein C-terminus binding.

UniProtKB/Swiss-Prot for ECM1 Gene

  • Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity.

Gene Wiki entry for ECM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECM1 Gene

Genomics for ECM1 Gene

Regulatory Elements for ECM1 Gene

Genomic Location for ECM1 Gene

Start:
150,508,011 bp from pter
End:
150,513,789 bp from pter
Size:
5,779 bases
Orientation:
Plus strand

Genomic View for ECM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ECM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECM1 Gene

Proteins for ECM1 Gene

  • Protein details for ECM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16610-ECM1_HUMAN
    Recommended name:
    Extracellular matrix protein 1
    Protein Accession:
    Q16610
    Secondary Accessions:
    • A8K8S0
    • B4DW49
    • B4DY60
    • O43266
    • Q5T5G4
    • Q5T5G5
    • Q5T5G6
    • Q8IZ60

    Protein attributes for ECM1 Gene

    Size:
    540 amino acids
    Molecular mass:
    60674 Da
    Quaternary structure:
    • Interacts (via C-terminus) with HSPG2 (via C-terminus). Interacts with EFEMP1/FBLN3 and LAMB3. Interacts with MMP9.

    Alternative splice isoforms for ECM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECM1 Gene

Proteomics data for ECM1 Gene at MOPED

Post-translational modifications for ECM1 Gene

  • Glycosylation at Tyr43, Ser48, Ser119, Asn354, Thr391, Asn444, and Asn530
  • Modification sites at PhosphoSitePlus

Other Protein References for ECM1 Gene

Antibody Products

No data available for DME Specific Peptides for ECM1 Gene

Domains for ECM1 Gene

Protein Domains for ECM1 Gene

Suggested Antigen Peptide Sequences for ECM1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ECM1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ECM1 Gene

Function for ECM1 Gene

Molecular function for ECM1 Gene

GENATLAS Biochemistry: extracellular matrix protein 1,with two alternative spliced isoform,1.8kb,expressed in heart,placenta,1.4kb,in tonsils and keratinocytes
UniProtKB/Swiss-Prot Function: Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity.

Gene Ontology (GO) - Molecular Function for ECM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 16512877
GO:0004871 signal transducer activity IMP 12761501
GO:0005134 interleukin-2 receptor binding IEA --
GO:0005515 protein binding IPI 19275936
GO:0008022 protein C-terminus binding IPI 12604605
genes like me logo Genes that share ontologies with ECM1: view
genes like me logo Genes that share phenotypes with ECM1: view

Animal Models for ECM1 Gene

MGI Knock Outs for ECM1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for ECM1 Gene

Localization for ECM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECM1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ECM1 Gene COMPARTMENTS Subcellular localization image for ECM1 gene
Compartment Confidence
extracellular 5
cytoskeleton 1
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ECM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005578 proteinaceous extracellular matrix NAS 9367673
GO:0005615 extracellular space IEA --
GO:0031012 extracellular matrix IDA 20870722
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with ECM1: view

Pathways for ECM1 Gene

genes like me logo Genes that share pathways with ECM1: view

Pathways by source for ECM1 Gene

1 GeneGo (Thomson Reuters) pathway for ECM1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ECM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0001525 angiogenesis IEA --
GO:0001938 positive regulation of endothelial cell proliferation IDA 11292659
GO:0001960 negative regulation of cytokine-mediated signaling pathway IEA --
GO:0002828 regulation of type 2 immune response IEA --
genes like me logo Genes that share ontologies with ECM1: view

Transcripts for ECM1 Gene

Unigene Clusters for ECM1 Gene

Extracellular matrix protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ECM1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ECM1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - - - - -
SP3: -
SP4: - -
SP5: - -
SP6: -
SP7:
SP8: - - - - - -
SP9: -

Relevant External Links for ECM1 Gene

GeneLoc Exon Structure for
ECM1
ECgene alternative splicing isoforms for
ECM1

Expression for ECM1 Gene

mRNA expression in normal human tissues for ECM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ECM1 Gene

This gene is overexpressed in Esophagus - Mucosa (23.9), Cervix - Ectocervix (5.9), and Vagina (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ECM1 Gene

SOURCE GeneReport for Unigene cluster for ECM1 Gene Hs.81071

mRNA Expression by UniProt/SwissProt for ECM1 Gene

Q16610-ECM1_HUMAN
Tissue specificity: Expressed in breast cancer tissues. Little or no expression observed in normal breast tissues. Expressed in skin; wide expression is observed throughout the dermis with minimal expression in the epidermis.
genes like me logo Genes that share expressions with ECM1: view

In Situ Assay Products

Orthologs for ECM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ECM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ECM1 35
  • 99.51 (n)
  • 98.89 (a)
ECM1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ECM1 35
  • 84.28 (n)
  • 76.22 (a)
ECM1 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ECM1 35
  • 85.16 (n)
  • 76.58 (a)
ECM1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ecm1 35
  • 79.22 (n)
  • 69.57 (a)
Ecm1 16
Ecm1 36
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECM1 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ecm1 35
  • 79.72 (n)
  • 70.5 (a)
lizard
(Anolis carolinensis)
Reptilia ECM1 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ecm1 35
  • 51.62 (n)
  • 39.23 (a)
zebrafish
(Danio rerio)
Actinopterygii ECM1 (2 of 2) 36
  • 34 (a)
OneToMany
ecm1b 36
  • 26 (a)
OneToMany
Species with no ortholog for ECM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ECM1 Gene

ENSEMBL:
Gene Tree for ECM1 (if available)
TreeFam:
Gene Tree for ECM1 (if available)

Paralogs for ECM1 Gene

Pseudogenes.org Pseudogenes for ECM1 Gene

genes like me logo Genes that share paralogs with ECM1: view

No data available for Paralogs for ECM1 Gene

Variants for ECM1 Gene

Sequence variations from dbSNP and Humsavar for ECM1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs13294 - 150,512,511(+) ACATC(A/G)GTCGA missense, reference
rs875514 -- 150,512,079(+) CCATC(C/G)GTCCA intron-variant
rs945715 -- 150,513,055(+) CACAT(C/T)TGTCA intron-variant
rs1050867 -- 150,508,145(+) GCCGG(C/G)CCTTC utr-variant-5-prime
rs1050874 -- 150,510,982(+) CGGCT(C/G)GATGG synonymous-codon, reference

Relevant External Links for ECM1 Gene

HapMap Linkage Disequilibrium report
ECM1
Human Gene Mutation Database (HGMD)
ECM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ECM1 Gene

Disorders for ECM1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for ECM1 Gene including...

Search for ECM1 Gene in MalaCards »

(1) OMIM Diseases for ECM1 Gene (602201)

UniProtKB/Swiss-Prot

ECM1_HUMAN
  • Lipoid proteinosis (LiP) [MIM:247100]: 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. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane. {ECO:0000269 PubMed:11929856, ECO:0000269 PubMed:12603844}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ECM1 Gene

(12) Novoseek inferred disease relationships for ECM1 Gene

Disease -log(P) Hits PubMed IDs
proteinosis lipoid 98.1 40
lichen sclerosus 84.2 19
breast carcinoma 42.3 3
thyroid nodule 42 2
skin diseases 34.8 4

Relevant External Links for ECM1

Genetic Association Database (GAD)
ECM1
Human Genome Epidemiology (HuGE) Navigator
ECM1
genes like me logo Genes that share disorders with ECM1: view

Publications for ECM1 Gene

  1. The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization. (PMID: 9367673) Smits P. … Merregaert J. (Genomics 1997) 2 3 4 23
  2. Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21. (PMID: 9501329) Johnson M.R. … Francomano C.A. (Matrix Biol. 1997) 2 3 4 23
  3. ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain. (PMID: 19275936) Sercu S. … Merregaert J. (Matrix Biol. 2009) 3 4 23
  4. Recombinant human extracellular matrix protein 1 inhibits alkaline phosphatase activity and mineralization of mouse embryonic metatarsals in vitro. (PMID: 11165938) Deckers M.M.L. … Merregaert J. (Bone 2001) 3 4 23
  5. Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells. (PMID: 11292659) Han Z. … Zhang L. (FASEB J. 2001) 3 4 23

Products for ECM1 Gene

Sources for ECM1 Gene

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