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FLASH GENE
Symbol CARMIL1 contributors: mct - updated : 12-07-2016
HGNC name capping protein regulator and myosin 1 linker 1
HGNC id 21581
Location 6p22.2      Physical location : -
Synonym name
  • leucine rich repeat containing 16
  • CARMIL homolog
  • capping protein, Arp2/3, and Myosin-I linker
  • leucine rich repeat containing 16A
  • Synonym symbol(s) dJ501N12.1,dj501N12.5, FLJ20048, FLJ43708, LRRC16, CARMIL, CARMIL1a, Acan 125, LRRC16, LRRC16A
    DNA
    TYPE functioning gene
    STRUCTURE 341.10 kb     37 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 5431 - 1371 - 2005 16054028
    37 - 5413 - 1365 - 2005 16054028
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Respiratorylung    
    Urinarykidney    
    cell lineage
    cell lines breast tumor
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • non-canonical pleckstrin homology (PH) domain connected to a 16-leucine-rich repeat domain
  • isolated CAH3 domain (and presumably the intact molecule as well) possesses the ability to uncap capping protein-capped actin filaments
  • a 115-AA CARMIL fragment of CARMIL with two motifs, termed the CP-binding region (CBR), binds to CP with high affinity, inhibits capping, and causes uncapping
  • HOMOLOGY
    Homologene
    FAMILY
  • CARMIL family of proteins, LRR superfamily
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • localized to lamellipodia and macropinosomes
  • interacts directly with the plasma membrane through its amino-terminal region
  • basic FUNCTION
  • self-associates and interacts with capping protein with affinities that, given the cellular concentrations of the proteins
  • key regulator of CP (capping protein) and has profound effects on cell behavior
  • may play an important role in the physiological regulation of actin assembly
  • LRCC16A and LRRC16B were necessary for cell migration, but for different reasons (
  • inhibits the actin capping action of heterodimeric capping protein
  • promotes uncapping by binding to a freely accessible site on capping protein (CP) bound to a filament barbed end and inducing a change in the conformation of the actin-binding surface of CP
  • cytoskeletal scaffold that has crucial roles in cell motility and tissue development through interactions with cytoskeletal effectors and regulation of capping protein at the leading edge
  • role of LRRC16A in platelet formation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MYO1E interact with proteins involved in endocytosis and actin dynamics, including dynamin, synaptojanin, and LRRC16A, presumably via the MYO1E SH3 domain
  • is a member of a set of otherwise unrelated proteins that bind and inhibit CP via a common motif
  • interaction of CARMIL1 with capping protein (CP) shows little to no importance for other functions of CARMIL1, including localization of CARMIL1 to the membrane, activation of RAC1, and cell migration
  • direct membrane-binding mechanism for CARMIL1 localization at the leading edge, where it regulates cytoskeletal effectors and motility
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    caused loss of lamellipodial actin, along with defects in protrusion, ruffling, and macropinocytosis
    Susceptibility to gout
    Variant & Polymorphism SNP
  • rs742132 associated with gout, which could be due to urate transportsome failure 4)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS