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FLASH GENE
Symbol LIPH contributors: mct - updated : 28-11-2018
HGNC name lipase, member H
HGNC id 18483
Corresponding disease
HTSS3 hypotrichosis simplex of the scalp 3
Location 3q27.2      Physical location : 185.225.570 - 185.270.369
Synonym name
  • membrane-bound phosphatidic acid-selective phospholipase A1
  • mPA-PLA1 alpha
    • Synonym symbol(s) mPA-PLA1, PLA1B, PLA1, AH, LPDLR, ARWH2, HYPT7, LAH2
    EC.number 2.7.11.30
    DNA
    TYPE functioning gene
    STRUCTURE 45.62 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2478 - 451 - 2003 12963729
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Endocrinepancreas    
    Reproductivemale systemtestis   
    Respiratoryrespiratory tracttrachea  highly
    Skin/Tegumentskin appendageshair    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumenthair follicle cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • a short lid domain
  • one lipase domain at the N terminus
  • a secretory signal peptide with a 18 AA hydrophobic sequence
    • HOMOLOGY
    interspecies homolog to murine Liph
    intraspecies homolog to LIPG
    Homologene
    FAMILY pancreatic lipase gene family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • hydrolyzes phospholipids and produces 2-acyl-lysophospholipids and fatty acids (Aoki 2007)
  • catalyzing the production of 2-acyl lysophosphatidic acid (LPA), lipid mediator with diverse biological properties including platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility
  • may be regulating hair growth
  • lipid mediator with wide variety of biological properties including stimulation of cell proliferation, migration, survival, wound healing in skin, cell clustering
  • have a role in the production of lysophosphatidylserine and lysophosphatidic acid mediators (Aoki 2007)
  • membrane-associated phosphatidic acid-preferring phospholipase A(1)alpha, and p.Cys246Ser- and p.His248Asn-LIPH mutants showed complete abolition of hydrolytic activity and had no LPAR6 activation ability, leading to pathogenesis of wolly hair or hypotrichosis
  • crucial role of LIPH in hair production
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LPA-producing enzyme LIPH regulates hair follicle development by modulating EGFR signalling
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTSS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in esophageal adenocarcinoma
    tumoral     --over  
    in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • biomarker for lung adenocarcinoma and squamous carcinoma
  • may be a novel molecular biomarker for lung cancer, especially for adenocarcinoma and bronchioloalveolar carcinoma
    • Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousdermatology 
    potential target for the development of a therapeutic agent for the control of hair loss or growth
    ANIMAL & CELL MODELS
  • Pa-Pla(1)alpha-deficient mice generated in this study exhibited wavy hairs due to the aberrant formation of the inner root sheath (IRS) in hair follicles