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Aliases for ECM1 Gene

Aliases for ECM1 Gene

  • Extracellular Matrix Protein 1 2 3 5
  • Secretory Component P85 3 4
  • Testicular Tissue Protein Li 61 3
  • URBWD 3

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 Phospholipase-C Pathway. GO annotations related to this gene include enzyme binding 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

Enhancers for ECM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ECM1 on UCSC Golden Path with GeneCards custom track

Promoters for ECM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ECM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ECM1 Gene

Chromosome:
1
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

Genes around ECM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Tyr 43, Ser 119, Asn 354, Thr 391, Asn 444, and Asn 530
  • Modification sites at PhosphoSitePlus

Other Protein References for ECM1 Gene

Antibody Products

No data available for DME Specific Peptides for ECM1 Gene

Domains & Families 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
genes like me logo Genes that share ontologies with ECM1: view
genes like me logo Genes that share phenotypes with ECM1: view

Human Phenotype Ontology for ECM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ECM1 Gene

MGI Knock Outs for ECM1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for ECM1 Gene

Pathways & Interactions for ECM1 Gene

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

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:0007165 signal transduction IMP 12761501
GO:0010466 negative regulation of peptidase activity IDA 16512877
GO:0030502 negative regulation of bone mineralization IDA 11165938
genes like me logo Genes that share ontologies with ECM1: view

No data available for SIGNOR curated interactions for ECM1 Gene

Drugs & Compounds for ECM1 Gene

No Compound Related Data Available

Transcripts for ECM1 Gene

Unigene Clusters for ECM1 Gene

Extracellular matrix protein 1:
Representative Sequences:

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 (x23.9), Cervix - Ectocervix (x5.9), and Vagina (x5.0).

Protein differential expression in normal tissues from HIPED for ECM1 Gene

This gene is overexpressed in Cervix (17.5), Plasma (11.8), Serum (9.6), Urine (7.0), and Synovial fluid (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ECM1: view

No data available for Protein tissue co-expression partners for ECM1 Gene

Orthologs for ECM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ECM1 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia ECM1 35
  • 99.51 (n)
  • 98.89 (a)
ECM1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ecm1 35
  • 79.72 (n)
  • 70.5 (a)
oppossum
(Monodelphis domestica)
Mammalia ECM1 36
  • 53 (a)
OneToOne
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
VAR_014761 -
rs1050901 - 150,513,426(+) CTGGA(A/G)GAACA reference, missense
rs1050904 - 150,513,448(+) CACCT(C/T)TGAGC reference, missense
VAR_018690 -
VAR_018691 Lipoid proteinosis (LiP)

Variation tolerance for ECM1 Gene

Residual Variation Intolerance Score: 66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.47; 85.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECM1 Gene

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

(7) MalaCards diseases for ECM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
urbach-wiethe disease
  • lipoid proteinosis
lichen sclerosus
  • lichen sclerosis
benign mesenchymoma
  • mesenchymoma, benign
epidermodysplasia verruciformis
  • lewandowsky-lutz syndrome
mesenchymoma
- elite association - COSMIC cancer census association via MalaCards
Search ECM1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ECM1

Genetic Association Database (GAD)
ECM1
Human Genome Epidemiology (HuGE) Navigator
ECM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECM1
genes like me logo Genes that share disorders with ECM1: view

No data available for Genatlas for ECM1 Gene

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 67
  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 23
  3. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. (PMID: 19861958) Festen E.A. … Weersma R.K. (Am. J. Gastroenterol. 2010) 3 23
  4. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. (PMID: 19068216) Anderson C.A. … Parkes M. (Gastroenterology 2009) 3 23
  5. 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 23

Products for ECM1 Gene

Sources for ECM1 Gene

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