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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 Urb... See more...
Aliases for ECM1 Gene
Aliases for ECM1 Gene
External Ids for ECM1 Gene
- HGNC: 3153
- Entrez Gene: 1893
- Ensembl: ENSG00000143369
- OMIM: 602201
- UniProtKB: Q16610
Previous GeneCards Identifiers for ECM1 Gene
- GC01P148322
- GC01P146227
- GC01P147255
- GC01P147697
- GC01P147293
- GC01P148747
- GC01P150480
- GC01P121858
Summaries 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 Lipoid Proteinosis Of Urbach And Wiethe and Lichen Sclerosus Et Atrophicus. Among its related pathways are Integrin Pathway and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein C-terminus binding.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for ECM1 Gene
- HGNC(3153)
- Entrez Gene(1893)
- Ensembl(ENSG00000143369)
- OMIM(602201)
- UniProtKB(Q16610)
- Open Targets Platform(ENSG00000143369)
- Monarch Initiative
- Search for ECM1 at DataMed
- Search for ECM1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECM1 Gene
Genomics for ECM1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ECM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ECM1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ECM1
- Top Transcription factor binding sites by QIAGEN in the ECM1 gene promoter:
-
- AP-1
- c-Myb
- CREB
- ISGF-3
- NF-1
- NF-1/L
- NF-E2
- NF-E2 p45
- PPAR-alpha
- YY1
Genomic Locations for ECM1 Gene
Genomic Locations for ECM1 Gene
- chr1:150,508,062-150,513,789
- (GRCh38/hg38)
- Size:
- 5,728 bases
- Orientation:
- Plus strand
- chr1:150,480,487-150,486,265
- (GRCh37/hg19)
- 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:
-
- 1q21.2 by HGNC
- 1q21.2 by Entrez Gene
- 1q21.2 by Ensembl
ECM1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
- Miscellaneous:
-
- [Isoform 4]: May be due to intron retention.
Protein Expression for ECM1 Gene
Post-translational modifications for ECM1 Gene
Other Protein References for ECM1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ECM1 Antibody
- NSJ Bioreagents Secretory Component Antibody (Mouse Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for ECM1
- Novus Biologicals Antibodies for ECM1
-
Abcam antibodies for ECM1
- Invitrogen Antibodies for ECM1 (AFLGC-ECM1)
-
Biorbyt antibodies for ECM1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ECM1
- Sino Biological Antibodies for ECM1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ECM1
- Origene Custom Protein Services for ECM1
- Sino Biological Cell Lysates for ECM1
- Sino Biological Recombinant Proteins for ECM1
-
Signalway Proteins for ECM1
-
Abcam proteins for ECM1
Assay Products
- RayBiotech Human ECM-1 ELISA
-
Signalway ELISA kits for ECM1
- Sino Biological Assays for ECM1
No data available for DME Specific Peptides for ECM1 Gene
Domains & Families for ECM1 Gene
Gene Families for ECM1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted secreted proteins
Protein Domains for ECM1 Gene
- InterPro:
- Blocks:
-
- Extracellular matrix 1
- ProtoNet:
Suggested Antigen Peptide Sequences for ECM1 Gene
- GenScript: Design optimal peptide antigens:
-
- Truncated extracellular matrix protein 1 (C8CHS3_HUMAN)
- Secretory component p85 (ECM1_HUMAN)
- ECM1 short variant (Q2QKP8_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ECM1 Gene
Function for ECM1 Gene
Molecular function for ECM1 Gene
- 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.
- GENATLAS Biochemistry:
- extracellular matrix protein 1,with two alternative spliced isoform,1.8kb,expressed in heart,placenta,1.4kb,in tonsils and keratinocytes
Phenotypes From GWAS Catalog for ECM1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IPI | 16512877 |
| GO:0005134 | interleukin-2 receptor binding | IEA | -- |
| GO:0005201 | extracellular matrix structural constituent | RCA | 25037231 |
| GO:0005515 | protein binding | IPI | 19275936 |
| GO:0008022 | protein C-terminus binding | IPI | 12604605 |
Phenotypes for ECM1 Gene
- MGI mutant phenotypes for ECM1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ECM1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased viability ratio
- Negative genetic interaction between BLM-/- and BLM+/+
- Downregulation of Wnt pathway after Wnt3A stimulation
- Increased HPV18 LCR reporter activity
- Decreased homologous recombination repair frequency
- Increased homologous recombination repair frequency
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ECM1 - Select products 50% OFF >
- * ECM1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ECM1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ECM1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ECM1
miRNA for ECM1 Gene
- miRTarBase miRNAs that target ECM1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ECM1
- Browse OriGene Inhibitory RNA Products For ECM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECM1
Clone Products
- Applied Biological Materials (abm): Clones for ECM1 - Select products 50% OFF >
- * ECM1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222722
- MR222722
- MR222722L3
- MR222722L4
- MR230513
- RC201118
- RC201118L1
- RC201118L2
- RC201118L3
- RC201118L4
- RC219532
- RC219532L3
- RC219532L4
- RC234451
- RG201118
- RG219532
- RG234451
- RR214914
- RR214914L3
- RR214914L4
- MR222722L3V
- MR222722L4V
- RC201118L1V
- RC201118L2V
- RC201118L3V
- RC201118L4V
- RC219532L3V
- RC219532L4V
- RR214914L3V
- RR214914L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ECM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ECM1
Cell Line Products
-
Horizon Cell Lines for ECM1
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA,IBA | 21873635 |
| GO:0031012 | extracellular matrix | TAS,NAS | 9367673 |
| GO:0031089 | platelet dense granule lumen | TAS | -- |
| GO:0062023 | collagen-containing extracellular matrix | HDA,IDA | 20870722 |
Pathways & Interactions for ECM1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
| 2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 3 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 4 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
| 5 | Cell adhesion_Cell-matrix glycoconjugates |
Cell adhesion_Cell-matrix glycoconjugates
-
|
|
Pathways by source for ECM1 Gene
4 Reactome pathways for ECM1 Gene
1 GeneGo (Thomson Reuters) pathway for ECM1 Gene
- Cell adhesion_Cell-matrix glycoconjugates
13 Qiagen pathways for ECM1 Gene
- ERK Signaling
- FAK1 Signaling
- GnRH Signaling
- ILK Signaling
- Inhibition of Angiogenesis by TSP1
Interacting Proteins for ECM1 Gene
Selected Interacting proteins:
Q16610-ECM1_HUMAN
ENSP00000358045
for ECM1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ECM1
| 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:0002063 | chondrocyte development | IEA | -- |
Transcripts for ECM1 Gene
mRNA/cDNA for ECM1 Gene
- 3 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000470432 3066 nts (view in UCSC)
- ENST00000369049 1925 nts (view in UCSC)
- ENST00000498579 943 nts (view in UCSC)
- ENST00000369047 2046 nts (view in UCSC)
- ENST00000496744 1030 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ECM1 - Select products 50% OFF >
- * ECM1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ECM1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ECM1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ECM1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ECM1
- Browse OriGene Inhibitory RNA Products For ECM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECM1
Clone Products
- Applied Biological Materials (abm): Clones for ECM1 - Select products 50% OFF >
- * ECM1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222722
- MR222722
- MR222722L3
- MR222722L4
- MR230513
- RC201118
- RC201118L1
- RC201118L2
- RC201118L3
- RC201118L4
- RC219532
- RC219532L3
- RC219532L4
- RC234451
- RG201118
- RG219532
- RG234451
- RR214914
- RR214914L3
- RR214914L4
- MR222722L3V
- MR222722L4V
- RC201118L1V
- RC201118L2V
- RC201118L3V
- RC201118L4V
- RC219532L3V
- RC219532L4V
- RR214914L3V
- RR214914L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ECM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ECM1
| 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
Expression for ECM1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Endocardial Tube Cells Endocardium
-
Ovary (Reproductive System)
- Granulosa Cells Primary Follicle
- Eye (Sensory Organs)
-
Uterus (Reproductive System)
-
Gall Bladder (Hepatobiliary System)
-
Esophagus (Gastrointestinal Tract)
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).
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, MaxQB, and MOPED for ECM1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ECM1
SOURCE GeneReport for Unigene cluster for ECM1 Gene:
Hs.81071mRNA 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.
Evidence on tissue expression from TISSUES for ECM1 Gene
- Skin(4.8)
- Liver(4.6)
- Bone marrow(4.3)
- Nervous system(3.9)
- Thyroid gland(3)
- Heart(2.5)
- Muscle(2.4)
- Blood(2.3)
- Intestine(2.2)
- Stomach(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ECM1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- eye
- face
- head
- larynx
- lip
- mouth
- neck
- scalp
- tongue
- vocal cord
Limb:
- digit
- foot
- lower limb
- nail
- toe
General:
- blood
- hair
- skin
- sweat gland
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for ECM1
-
OriGene qPCR primer pairs and template standards for ECM1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ECM1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ECM1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ECM1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ecm1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ecm1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ECM1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ECM1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ecm1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ECM1 (2 of 2) 31 |
|
OneToMany | |
| ecm1b 31 |
|
OneToMany |
- Species where no ortholog for ECM1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ECM1: view image
Paralogs for ECM1 Gene
Pseudogenes.org Pseudogenes for ECM1 Gene
No data available for Paralogs for ECM1 Gene
Variants for ECM1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ECM1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 709803 | Benign: not provided | 150,512,510(+) | C/T | SYNONYMOUS_VARIANT | |
| 711736 | Benign: not provided | 150,512,422(+) | G/A | MISSENSE_VARIANT | |
| 729430 | Benign: not provided | 150,513,392(+) | C/T | SYNONYMOUS_VARIANT | |
| 736513 | Likely Benign: not provided | 150,509,980(+) | C/T | SYNONYMOUS_VARIANT | |
| 737232 | Benign: not provided | 150,512,763(+) | G/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1006838 | CNV | gain | 25217958 |
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)
Additional Variant Information for ECM1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECM1 Gene
Disorders for ECM1 Gene
(12) MalaCards diseases for ECM1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lipoid proteinosis of urbach and wiethe |
|
|
| lichen sclerosus et atrophicus |
|
|
| balanitis xerotica obliterans |
|
|
| joubert syndrome 31 |
|
|
| urethral syndrome |
|
|
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.
Additional Disease Information for ECM1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ECM1 Gene
Publications for ECM1 Gene
- Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21. (PMID: 9501329) Johnson MR … Francomano CA (Matrix biology : journal of the International Society for Matrix Biology 1997) 2 3 4 23
- 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
- Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. (PMID: 19861958) Festen EA … Weersma RK (The American journal of gastroenterology 2010) 3 23 41
- 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 biology : journal of the International Society for Matrix Biology 2009) 3 4 23
- Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. (PMID: 16512877) Fujimoto N … Uitto J (Experimental dermatology 2006) 3 4 23
ExternalLinks
Products for ECM1 Gene
- View all 8 R&D Systems ECM1 (ECM1) Products
- View all R&D Systems ECM1 (ECM1) Proteins and Enzymes
- View all 5 R&D Systems ECM1 (ECM1) Primary Antibodies
- View all R&D Systems ECM1 (ECM1) ELISAs
- View all R&D Systems ECM1 (ECM1) Proteome Profiler Antibody Arrays
- Learn more about R&D Systems custom ECM1 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for ECM1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for ECM1
- Origene Custom Protein Services for ECM1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ECM1
- Browse OriGene Inhibitory RNA Products For ECM1
- OriGene qPCR primer pairs for ECM1
- OriGene qPCR primer pairs and template standards for ECM1
- OriGene CRISPR knockouts for ECM1
- MG222722
- MR222722
- MR222722L3
- MR222722L4
- MR230513
- RC201118
- RC201118L1
- RC201118L2
- RC201118L3
- RC201118L4
- RC219532
- RC219532L3
- RC219532L4
- RC234451
- RG201118
- RG219532
- RG234451
- RR214914
- RR214914L3
- RR214914L4
- MR222722L3V
- MR222722L4V
- RC201118L1V
- RC201118L2V
- RC201118L3V
- RC201118L4V
- RC219532L3V
- RC219532L4V
- RR214914L3V
- RR214914L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ECM1
- Sino Biological Human cDNA Clone for ECM1
- Sino Biological Cell Lysates for ECM1
- Sino Biological Recombinant Proteins for ECM1
- Sino Biological Antibodies for ECM1
- Sino Biological Assays for ECM1
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ECM1
- Novus Biologicals proteins and lysates for ECM1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ECM1
- Abcam proteins for ECM1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for ECM1 (AFLGC-ECM1)
- VectorBuilder Custom and pre-made DNA vectors for ECM1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ECM1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ECM1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ECM1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ECM1
- antibodies-online: Show 7 available ECM1 Antibodies ranked by validation data
- Compare Top ECM1 Antibodies
- antibodies-online: Show 58 available ECM1 Elisa Kits ranked by validation data
- Compare Top ECM1 Elisa Kits
- Quality Products:
- antibodies-online: Show 12 available ECM1 Proteins ranked by validation data
- Compare Top ECM1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ECM1
- Search Santa Cruz Biotechnology (SCBT) for ECM1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ECM1
- Horizon Cell Lines for ECM1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ECM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ECM1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ECM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECM1
- Biorbyt antibodies for ECM1
Sources for ECM1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB