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    ECM1 extracellular matrix protein 1 [ Homo sapiens (human) ]

    Gene ID: 1893, updated on 15-Apr-2018
    Official Symbol
    ECM1provided by HGNC
    Official Full Name
    extracellular matrix protein 1provided by HGNC
    Primary source
    HGNC:HGNC:3153
    See related
    Ensembl:ENSG00000143369 MIM:602201; Vega:OTTHUMG00000012806
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    URBWD
    Summary
    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]
    Expression
    Biased expression in esophagus (RPKM 332.0), gall bladder (RPKM 47.3) and 3 other tissues See more
    Orthologs
    Location:
    1q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (150508011..150513789)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150480487..150486265)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene regulation of nuclear pre-mRNA domain containing 2 Neighboring gene microRNA 6878 Neighboring gene threonyl-tRNA synthetase 2, mitochondrial Neighboring gene focally amplified long non-coding RNA in epithelial cancer Neighboring gene uncharacterized LOC100289061 Neighboring gene uncharacterized LOC107983947 Neighboring gene ADAMTS like 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
    tat HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1 PubMed

    Go to the HIV-1, Human Interaction Database

    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    interleukin-2 receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    laminin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity HMP PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cytokine-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ossification IEA
    Inferred from Electronic Annotation
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling HMP PubMed 
    positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of T cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of type 2 immune response IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    platelet dense granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    extracellular matrix protein 1
    Names
    secretory component p85
    testicular tissue protein Li 61

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012062.1 RefSeqGene

      Range
      5001..10779
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001202858.1NP_001189787.1  extracellular matrix protein 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001189787.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses alternate in-frame donor and acceptor splice sites at 2 adjacent exons compared to variant 1, resulting in a longer isoform (3) compared to isoform 1.
      Source sequence(s)
      AK097046, CA413352, DA963826
      Consensus CDS
      CCDS55632.1
      UniProtKB/Swiss-Prot
      Q16610
      Related
      ENSP00000358045.4, OTTHUMP00000014933, ENST00000369049.8, OTTHUMT00000035833
      Conserved Domains (1) summary
      pfam05782
      Location:5567
      ECM1; Extracellular matrix protein 1 (ECM1)
    2. NM_004425.3NP_004416.2  extracellular matrix protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004416.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
      Source sequence(s)
      AL356356, CA413352, DA963826, U68186
      Consensus CDS
      CCDS953.1
      UniProtKB/Swiss-Prot
      Q16610
      UniProtKB/TrEMBL
      A0A140VJI7
      Related
      ENSP00000358043.4, OTTHUMP00000014932, ENST00000369047.8, OTTHUMT00000035832
      Conserved Domains (1) summary
      pfam05782
      Location:5540
      ECM1; Extracellular matrix protein 1 (ECM1)
    3. NM_022664.2NP_073155.2  extracellular matrix protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_073155.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AK097046, AL356356, CA413352, DA963826, U68187
      Consensus CDS
      CCDS954.1
      UniProtKB/Swiss-Prot
      Q16610
      Related
      ENSP00000271630.6, OTTHUMP00000014934, ENST00000346569.6, OTTHUMT00000035834
      Conserved Domains (1) summary
      pfam05782
      Location:5415
      ECM1; Extracellular matrix protein 1 (ECM1)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      150508011..150513789
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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