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FLASH GENE
Symbol MYLIP contributors: mct - updated : 22-02-2012
HGNC name myosin regulatory light chain interacting protein
HGNC id 21155
Location 6p22.3      Physical location : 16.129.316 - 16.148.476
Synonym name
  • band 4.1 superfamily member BZF1
  • cellular modulator of immune recognition (c-MIR)
  • inducible degrader of the LDL receptor
    • Synonym symbol(s) MIR, BZF1, RP1-13D10.1, IDOL
    EC.number 6.3.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 19.16 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    MGC33993 6p23 hypothetical protein MGC33993 MRPL35P1 6q23 hypothetical protein MGC33993 CD83 6p23 CD83 antigen (activated B lymphocytes, immunoglobulin superfamily) JMJ 6p24-p23 jumonji homolog (mouse) DTNBP1 6p22.3 dystrobrevin binding protein 1 LOC346113 6p22.3 similar to ARP2/3 complex 21 kDa subunit (p21-ARC) (Actin-related protein 2/3 complex subunit 3) LOC391871 6 similar to malate dehydrogenase 1; malate dehydrogenase, soluble; Malate dehydrogenase-like enzyme MYLIP 6p23-p22.3 myosin regulatory light chain interacting protein MRPL42P2 6p22.3 myosin regulatory light chain interacting protein GMPR 6p23 guanosine monophosphate reductase SCA1 6p23 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) RNPC6 6p22.3 RNA-binding region (RNP1, RRM) containing 6 CAP2 6p22.3 CAP, adenylate cyclase-associated protein, 2 (yeast) FAM8A1 6p23 family with sequence similarity 8, member A1 NUP153 6p25.3-p22.1 nucleoporin 153kDa KIF13A 6p23 kinesin family member 13A NHLRC1 6p22.3 NHL repeat containing 1 TPMT 6p22.3 thiopurine S-methyltransferase AOF1 6p22.3 amine oxidase, flavin containing 1 DEK 6p23 DEK oncogene (DNA binding)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3086 49.8 445 - 2011 21685362
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
     braindiencephalonhypothalamus  
     brainhindbraincerebellum  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • A FERM domain binding directly to a recognition sequence in the cytoplasmic tails of lipoprotein receptors
  • C terminal RING finger domain, RING domain promoting the Lys-63-specific ubiquitination of the LDLR
    • HOMOLOGY
    Homologene
    FAMILY
  • ezrin-radixin-moesin (ERM) family
    • CATEGORY enzyme , motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • involved in neurite out growth and regulation of nerve cell mobility
  • E3 ubiquitin ligase that triggers ubiquitination of the LDLR on its cytoplasmic domain, thereby targeting it for degradation
  • sterol-dependent regulator of the LDL receptor (LDLR)
  • modulator of lipoprotein metabolism
  • triggers ubiquitination and subsequent degradation of the low density lipoprotein receptor (LDLR)
  • regulates LDL receptor (LDLR)-dependent cholesterol uptake
  • recruited to the plasma membrane by LDLR, promotes LDLR internalization in the absence of clathrin or caveolae, and facilitates LDLR degradation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neuronal development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with myosin regulatory light chain
  • direct target for regulation by liver X receptors (LXRs), and its expression is responsive to cellular sterol status independent of the sterol-response element-binding proteins
  • targets two closely related LDLR family members, VLDLR and ApoE receptor 2 (LRP8)
  • interacting with UBE2D1 (MYLIP-UBE2D1 complex is an important determinant of LDLR activity)
  • MYLIP-LDLR interaction is an evolutionarily conserved mechanism for the regulation of lipid uptake, suggesting that this interaction could potentially be exploited for the pharmacologic modulation of lipid metabolism
  • catalyzes the transfer of ubiquitin chains to itself and to the LDLR that do not contain exclusively K48 or K63 linkages
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismlipid 
    modulation of MYLIP activity can affect LDL-C levels and that pharmacologic inhibition of MYLIP activity might be a useful strategy in the treatment of dyslipidemia
    cardiovascularatheroma 
    modulation of MYLIP activity can affect LDL-C levels and that pharmacologic inhibition of MYLIP activity might be a useful strategy in the treatment of atherosclerotic cardiovascular disease
    ANIMAL & CELL MODELS