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ECM1 Gene

protein-coding   GIFtS: 64
GCID: GC01P150480

Extracellular Matrix Protein 1

  See ECM1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Extracellular Matrix Protein 11 2
Secretory Component P852 3
URBWD2 5

External Ids:    HGNC: 31531   Entrez Gene: 18932   Ensembl: ENSG000001433697   OMIM: 6022015   UniProtKB: Q166103   

Export aliases for ECM1 gene to outside databases

Previous GC identifers: GC01P148322 GC01P146227 GC01P147255 GC01P147697 GC01P147293 GC01P148747 GC01P121858


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 lipoid proteinosis, and lichen sclerosus. GO annotations related to this gene include protein C-terminus binding and signal transducer activity.

UniProtKB/Swiss-Prot: ECM1_HUMAN, Q16610
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 Wiki entry for ECM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ECM1 gene promoter:
         NF-1   NF-1/L   ISGF-3   AP-1   NF-E2 p45   YY1   PPAR-alpha   CREB   c-Myb   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidECM1 promoter sequence
   Search Chromatin IP Primers for ECM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ECM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

ECM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ECM1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P150480:  view genomic region     (about GC identifiers)

Start:
150,480,487 bp from pter      End:
150,486,265 bp from pter
Size:
5,779 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ECM1_HUMAN, Q16610 (See protein sequence)
Recommended Name: Extracellular matrix protein 1 precursor  
Size: 540 amino acids; 60674 Da
Subunit: Interacts (via C-terminus) with HSPG2 (via C-terminus). Interacts with EFEMP1/FBLN3 and LAMB3. Interacts
with MMP9
Secondary accessions: A8K8S0 B4DW49 B4DY60 O43266 Q5T5G4 Q5T5G5 Q5T5G6 Q8IZ60
Alternative splicing: 4 isoforms:  Q16610-1   Q16610-2   Q16610-3   Q16610-4   (May be due to intron retention)

Explore the universe of human proteins at neXtProt for ECM1: NX_Q16610

Explore proteomics data for ECM1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Tyr43, Ser48, Ser119, Asn354, Thr391, Asn444, Asn530
  • Modification sites at PhosphoSitePlus

  • See ECM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001189787.1  NP_004416.2  NP_073155.2  

    ENSEMBL proteins: 
     ENSP00000358045   ENSP00000358043   ENSP00000271630  

    ECM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ECM1
    OriGene Protein Over-expression Lysate for ECM1
    OriGene MassSpec for ECM1
    OriGene Custom Protein Services for ECM1
    GenScript Custom Purified and Recombinant Proteins Services for ECM1
    Novus Biologicals ECM1 Protein
    Novus Biologicals ECM1 Lysates
    Sino Biological Recombinant Protein for ECM1
    Sino Biological Cell Lysate for ECM1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ECM1

     
    Search eBioscience for Proteins for ECM1 

    ECM1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ECM1 (ECM-1)
    OriGene Antibodies for ECM1
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    Novus Biologicals ECM1 Antibodies
    Abcam antibodies for ECM1
    Cloud-Clone Corp. Antibodies for ECM1
    ThermoFisher Antibody for ECM1
    LSBio Antibodies in human, mouse, rat for ECM1

    ECM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ECM1
    R&D Systems Proteome Profiler Antibody Arrays for ECM1 (ECM-1)
    GenScript Custom Assay Services for ECM1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ECM1
    Cloud-Clone Corp. CLIAs for ECM1
    Search eBioscience for ELISAs for ECM1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR008605 ECM1
     IPR020858 Serum_albumin-like

    Graphical View of Domain Structure for InterPro Entry Q16610

    ProtoNet protein and cluster: Q16610

    1 Blocks protein domain: IPB008605 Extracellular matrix 1


    Find genes that share domains with ECM1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ECM1_HUMAN, Q16610
    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 entry for ECM1:
    extracellular matrix protein 1,with two alternative spliced isoform,1.8kb,expressed in heart,placenta,1.4kb,in
    tonsils and keratinocytes

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI16512877
    GO:0004871signal transducer activity IMP12761501
    GO:0005134interleukin-2 receptor binding IEA--
    GO:0005515protein binding IPI19275936
    GO:0008022protein C-terminus binding IPI12604605
         
    Find genes that share ontologies with ECM1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ECM1:
     Decreased Wnt reporter activit  Decreased homologous recombina  Increased HPV18 LCR reporter a 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ecm1):
     hematopoietic system  immune system  mortality/aging 

    Find genes that share phenotypes with ECM1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ecm1tm1Bsun for ECM1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ECM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ECM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ECM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ECM1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ECM1 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate ECM1:
    hsa-miR-3650 hsa-miR-3659 hsa-miR-330-5p hsa-miR-4255 hsa-miR-637 hsa-miR-342-5p hsa-miR-326 hsa-miR-608
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ECM1
    Predesigned siRNA for gene silencing in human, mouse, rat ECM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ECM1

    Clone
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    OriGene clones in human, mouse for ECM1 (see all 12)
    OriGene ORF clones in mouse, rat for ECM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ECM1 (NM_022664)
    Sino Biological Human cDNA Clone for ECM1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECM1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ECM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ECM1_HUMAN, Q16610: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton1
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005578proteinaceous extracellular matrix NAS9367673
    GO:0005615extracellular space IEA--
    GO:0031012extracellular matrix IDA--
    GO:0070062extracellular vesicular exosome IDA19199708

    Find genes that share ontologies with ECM1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ECM1 About    
    See pathways by source

    SuperPathContained pathways About
    1Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    2ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    4Cell adhesion Cell matrix glycoconjugates
    Cell adhesion Cell matrix glycoconjugates

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ECM1 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 GeneGo (Thomson Reuters) Pathway for ECM1
        Cell adhesion Cell-matrix glycoconjugates



        Pathway & Disease-focused RT2 Profiler PCR Array including ECM1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ECM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ECM1 (Q166102, 3 ENSP000003580434) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    REREQ9P2R62, 3, ENSP000003386294MINT-2858291 I2D: score=3 STRING: ENSP00000338629
    ATN1P542592, 3, ENSP000003490764MINT-2858272 I2D: score=3 STRING: ENSP00000349076
    IL2RBP147843, ENSP000002162234I2D: score=1 STRING: ENSP00000216223
    FBLN1P231423, ENSP000003315444I2D: score=1 STRING: ENSP00000331544
    HSPG2P981603, ENSP000003638274I2D: score=1 STRING: ENSP00000363827
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IEA--
    GO:0001525angiogenesis IEA--
    GO:0001938positive regulation of endothelial cell proliferation IDA11292659
    GO:0001960negative regulation of cytokine-mediated signaling pathway IEA--
    GO:0002828regulation of type 2 immune response IEA--

    Find genes that share ontologies with ECM1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ECM1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ECM1 gene (3 alternative transcripts): 
    NM_001202858.1  NM_004425.3  NM_022664.2  

    Unigene Cluster for ECM1:

    Extracellular matrix protein 1
    Hs.81071  [show with all ESTs]
    Unigene Representative Sequence: AK097205
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000470432(uc021oyd.1 uc010pcf.2 uc010pce.2 uc009wlu.3)
    ENST00000369049 ENST00000498579 ENST00000369047(uc001eus.3 uc001eut.3 uc001euv.3)
    ENST00000496744 ENST00000346569 ENST00000490346
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ECM1 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate ECM1:
    hsa-miR-3650 hsa-miR-3659 hsa-miR-330-5p hsa-miR-4255 hsa-miR-637 hsa-miR-342-5p hsa-miR-326 hsa-miR-608
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ECM1
    Predesigned siRNA for gene silencing in human, mouse, rat ECM1
    Clone
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    OriGene clones in human, mouse for ECM1 (see all 12)
    OriGene ORF clones in mouse, rat for ECM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ECM1 (NM_022664)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECM1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ECM1
    OriGene qSTAR qPCR primer pairs in human, mouse for ECM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECM1
      QuantiTect SYBR Green Assays in human, mouse, rat ECM1
      QuantiFast Probe-based Assays in human, mouse, rat ECM1

    Additional mRNA sequence: 

    AK097046.1 AK097205.1 AK292435.1 AK302279.1 BC023505.2 DQ010946.1 DQ112074.1 U65932.1 
    U68186.1 U68187.1 

    19 DOTS entries:

    DT.100039263  DT.416060  DT.97854836  DT.86847522  DT.100877718  DT.97854835  DT.121430331  DT.121430352 
    DT.95302878  DT.92441867  DT.92441868  DT.100877715  DT.121430323  DT.121430337  DT.121430360  DT.121430369 
    DT.91941510  DT.40225237  DT.95302900 

    Selected AceView cDNA sequences (see all 301):

    CB126281 CR616494 BQ682768 BX284075 CA444482 BM705943 CR622085 BU195751 
    AL542842 AI685519 BM929836 CR603901 BM789967 BQ680556 BU157645 BU838945 
    BM838010 BM791362 BU179328 CA748939 BM919199 CR624464 BM789547 CR609963 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ECM1 (see all 9)    About this scheme

    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:                          -                                                           -                                                   


    ECgene alternative splicing isoforms for ECM1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ECM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGCCCGCT
    ECM1 Expression
    About this image


    ECM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)
             Endocardial Tube Cells Endocardium
     
     Ovary (Reproductive System)
             Granulosa Cells Primary Follicle
     
     Esophagus (Gastrointestinal Tract)
     
     Gall Bladder (Hepatobiliary System)
     
     Uterus (Reproductive System)
    ECM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ECM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.81071

    UniProtKB/Swiss-Prot: ECM1_HUMAN, Q16610
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including ECM1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ECM1
    OriGene qSTAR qPCR primer pairs in human, mouse for ECM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECM1
    QuantiTect SYBR Green Assays in human, mouse, rat ECM1
    QuantiFast Probe-based Assays in human, mouse, rat ECM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ECM1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ecm11 , 5 extracellular matrix protein 11, 5 79.22(n)1
    69.57(a)1
      3 (40.91 cM)5
    136011  NM_007899.21  NP_031925.21 
     957341475 
    lizard
    (Anolis carolinensis)
    Reptilia ECM16
    extracellular matrix protein 1
    47(a)
    1 ↔ 1
    AAWZ02039112(4481-7077)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ecm11 extracellular matrix protein 1 51.62(n)
    39.23(a)
      100495718  XM_002942571.2  XP_002942617.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ECM1 (2 of 2)6
    ecm1b6
    extracellular matrix protein 1b
    34(a)
    26(a)
    many → 1
    many → 1
    19(11893596-11896364) ENSDARG00000091469
    16(11307887-11319055) ENSDARG00000086742


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ECM1 gene

    Find genes that share paralogs with ECM1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ECM1
    PGOHUM00000245853 PGOHUM00000235947


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ECM1 (see all 278)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0186914
    Lipoid proteinosis (LiP)4--see VAR_0186912 F I mis40--------
    rs1219091151,2
    Cpathogenic1156983445(+) TATCCC/TGAAGC 6 R * stg10--------
    rs1429970021,2
    C--121857210(+) CTCTG-/ACAC  
            
    ACACA
    3 -- us2k10--------
    rs1498154791,2
    C--121862563(+) ATGTA-/CCCCCCC 3 -- int10--------
    rs30651171,2
    C,F--150484396(-) GGGGG-/GGTACAT 3 -- int13Minor allele frequency- GG:0.25NA CSA 8
    rs37542141,2
    C,F,A,H--156979896(+) AAAGGC/TGAGGA 3 -- us2k120Minor allele frequency- T:0.45NA NS EA WA CSA 919
    rs748051301,2
    F--156979921(+) GCCAGA/GTTACC 3 -- us2k11Minor allele frequency- G:0.04WA 118
    rs1452385961,2
    --156980111(+) CCAGAG/TTGGGA 3 -- us2k10--------
    rs1491757041,2
    --156980178(+) TGAAGA/GCCACA 3 -- us2k10--------
    rs2020027821,2
    --156980225(+) TTCAG-/ACACGCG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for ECM1 (150480487 - 150486265 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ECM1: --
    Human Gene Mutation Database (HGMD): ECM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ECM1
    DNA2.0 Custom Variant and Variant Library Synthesis for ECM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602201   
    OMIM disorders: 247100  
    UniProtKB/Swiss-Prot: ECM1_HUMAN, Q16610
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 5 diseases for ECM1:    
    About MalaCards
    lipoid proteinosis    lichen sclerosus    lipoid proteinosis of urbach and wiethe    generalized dystonia
    peripheral retinal degeneration

    1 disease from the University of Copenhagen DISEASES database for ECM1:
    Lipoid proteinosis

    Find genes that share disorders with ECM1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ECM1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proteinosis lipoid 98.1 56 12603844 (5), 17721643 (4), 17927570 (3), 15927815 (2) (see all 27)
    lichen sclerosus 84.2 21 12867112 (7), 15173881 (4), 15927815 (3), 15347336 (2) (see all 7)
    breast carcinoma 42.3 3 19521735 (2), 14715705 (1)
    thyroid nodule 42 2 18374945 (1), 16135921 (1)
    skin diseases 34.8 4 14723723 (2), 15068453 (1), 15173881 (1)
    thyroid cancer 31.1 6 16135921 (4), 16688775 (1), 18374945 (1)
    metastasis 28.9 11 16646403 (3), 18984970 (2), 19146682 (1), 11292659 (1) (see all 5)
    tumors 12.7 20 16646403 (3), 18374945 (3), 19521735 (2), 11292659 (2) (see all 8)
    carcinoma squamous cell 10.9 1 14550953 (1)
    breast cancer 0.817 6 19521735 (3), 11292659 (2), 18044827 (1)

    Genetic Association Database (GAD): ECM1
    Human Genome Epidemiology (HuGE) Navigator: ECM1 (5 documents)

    Export disorders for ECM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ECM1 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with ECM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization. (PubMed id 9367673)1, 2, 3, 9 Smits P.... Merregaert J. (Genomics 1997)
    2. Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21. (PubMed id 9501329)1, 2, 3, 9 Johnson M.R.... Francomano C.A. (Matrix Biol. 1997)
    3. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. (PubMed id 12603844)1, 2, 9 Hamada T.... McGrath J.A. (J. Invest. Dermatol. 2003)
    4. Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells. (PubMed id 11292659)1, 2, 9 Han Z.... Zhang L. (FASEB J. 2001)
    5. ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain. (PubMed id 19275936)1, 2, 9 Sercu S.... Merregaert J. (Matrix Biol. 2009)
    6. Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis. (PubMed id 12604605)1, 2, 9 Mongiat M.... Iozzo R.V. (J. Biol. Chem. 2003)
    7. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). (PubMed id 11929856)1, 2, 9 Hamada T....McGrath J.A. (Hum. Mol. Genet. 2002)
    8. Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. (PubMed id 16512877)1, 2, 9 Fujimoto N.... Uitto J. (Exp. Dermatol. 2006)
    9. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. (PubMed id 19861958)1, 4, 9 Festen E.A....Weersma R.K. (Am. J. Gastroenterol. 2010)
    10. Recombinant human extracellular matrix protein 1 inhibits alkaline phosphatase activity and mineralization of mouse embryonic metatarsals in vitro. (PubMed id 11165938)1, 2, 9 Deckers M.M.L.... Merregaert J. (Bone 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1893 HGNC: 3153 AceView: ECM1 Ensembl:ENSG00000143369 euGenes: HUgn1893
    ECgene: ECM1 H-InvDB: ECM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ECM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ECM1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ECM1 gene:
    Search GeneIP for patents involving ECM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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