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FLASH GENE
Symbol ORMDL1 contributors: mct - updated : 27-08-2018
HGNC name ORM1-like 1 (S. cerevisiae)
HGNC id 16036
Location 2q32.2      Physical location : 190.634.993 - 190.649.097
Synonym name
  • adoplin-1
  • ORM1-like 1
  • Synonym symbol(s) FLJ44364, DKFZp686G141
    DNA
    TYPE functioning gene
    STRUCTURE 18.10 kb     3 Exon(s)
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • having several SP1-binding sites
  • a CpG island covering part of the upstream region, the first exon, and part of the first intron
  • MAPPING cloned Y linked N status confirmed
    Map cen - D2S152 - ORMDL1 - D2S2262 - D2S118 - qter
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    text 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 2185 17.2 153 - 2016 27313060
  • encoding the same protein than variant 2
  • 4 splicing 2075 17.2 153 - 2016 27313060
  • differing in the 5' UTR compared to variant 1
  • encoding the same protein than variant 1
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
     mouthtongue   
     pancreas exocrine   moderately
    Nervousbrain   moderately
    Reproductivefemale systemplacenta  moderately
    Respiratorylung   lowly
    Urinarybladder    
     kidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscularstriatumskeletal lowly
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period fetal
    Text heart, brain, lung, liver, skeletal muscle, kidney, spleen,thymus
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Ormdl1 (98 pc)
    Homologene
    FAMILY
  • ORM family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text multi-pass membrane protein
    basic FUNCTION
  • may be involved in protein folding in the ER
  • unique molecules with presenilin-related expression and functions that may play important role(s) in the maturation and activity of the gamma-secretase complex (Araki 2008)
  • Orm proteins are critical mediators of sphingolipid homeostasis, raising the possibility that sphingolipid misregulation contributes to the development of childhood asthma
  • ORMDL1, ORMDL2, ORMDL3 are the primary regulators of ceramide biosynthesis in mammalian cells, and constitute the major homeostatic regulators of ceramide biosynthesis
  • may be involved in regulation of ceramides during IL1-mediated sterile inflammation
  • CELLULAR PROCESS protein, post translation, folding
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SPTLC1 activity indirectly regulates ORMDL1, ORMDL2, ORMDL3 expression 2)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in in PSEN1-deficient fibroblasts, compared to wild-type cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS