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FLASH GENE
Symbol ECM1 contributors: mct - updated : 04-04-2016
HGNC name extracellular matrix protein 1
HGNC id 3153
DNA
TYPE functioning gene
STRUCTURE 5.78 kb     10 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 2161 60.7 540 heart, placenta 2000 10733679
  • also called variant 1 or ECM1A
  • utilizes different regions to bind to a variety of extracellular matrix components
    • 9 - 1786 46 415 tonsils, keratinocytes 2000 10733679
  • also called variant 2 or ECM1B
  • lacks exon 7, which results in an isoform 2 that is missing an internal region compared to isoform 1
    • 10 - 2242 - 567 - 2000 10733679
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveesophagus   highly
    Endocrineplacenta    
    Lymphoid/Immunetonsils    
    Reproductivefemale systembreastmammary gland highly
    Skin/Tegumentskin   highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain consists mainly of alpha-helices (alphaD1), while the remaining three domains, namely serum albumin subdomain-like (SASDL) domains 2-4, were topologically comparable with the subdomain of the third serum albumin domain
  • motifs characteristic of the cysteine pattern of the ligand-binding "double-loop" domains of the albumin protein family
  • three putative N-glycosylation sites
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Ecm1
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text COMP and ECM1 colocalize in the growth plates (Kong 2010)
    basic FUNCTION
  • negative regulator of enchondral formation involved in bone formation and angiogenesis
  • is a basement membrane protein of the skin
  • inhibits chondrocyte hypertrophy, matrix mineralization, and endochondral bone formation (Kong 2010)
  • playing a pivotal role in endochondral bone formation, angiogenesis, and tumour biology
  • is an additional factor involved in pre-60S export
  • function of ECM1 in regulating T(H)2 cell migration through control of KLF2 and S1P(1) expression
  • is required in the ureteric bud for regulating the distribution of RET which is normally restricted to the tips, as inhibition of ECM1 results in an expanded domain of RET expression and reduced numbers of branches
  • plays important roles in extracellular matrix formation
  • EDIL3, AMOT and ECM1 are involved in the excessive angiogenesis and vasodilation observed in psoriasis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component constituent of extracellular matrix
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with FBN1 (interactions may play a role in thepathogenesis of HCMU as well as in a number of processes involving the extracellular matrix of connective tissues)
  • multifunctional binding core and/or a scaffolding protein interacting with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis
  • novel COMP-associated partner (EGF domain of COMP and the C-terminus of ECM1 mediate the interaction between them. COMP)(Kong 2010)
  • role for TFAP2C in melanoma via its regulation of ECM1
  • ECM1 plays an important role in promoting the Warburg effect mediated by PKM
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HCMU
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in metastatic epithelial cells (breast, esophageal, gastric and colorectal)
    constitutional     --low  
    decrease of elastic fibers and extracellular matrix 1 protein was present in the hyalinization zone of lichen sclerosus compared to healthy controls
    tumoral     --over  
    may contribute to cholangiocarcinoma (CCA) initiation and progression through promoting migration and invasion of CCA cells
    constitutional       loss of function
    caused impaired T(H)2 responses and reduced allergic airway inflammation
    Susceptibility to ulcerative colitis
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS