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FLASH GENE
Symbol PEX5L contributors: mct/np/SHN - updated : 19-03-2019
HGNC name peroxisomal biogenesis factor 5-like
HGNC id 30024
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C-terminal tetratricopeptide repeat-containing domain in the brain cDNA encoded proteins
    • HOMOLOGY
    interspecies ortholog to Pex5l, Mus musculus
    ortholog to Pex5l, Rattus norvegicus
    ortholog to PEX5L, Pan troglodytes
    ortholog to pex5l, Danio rerio
    Homologene
    FAMILY
  • peroxisomal targeting signal receptor family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • functions as an auxiliary subunit that provides a mechanism for the dynamic regulation of HCN1 channel expression and function
  • accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) ion channels, that alters both the cell surface expression and cyclic nucleotide dependence of these channels
  • binds to and functions as an auxiliary subunit of hyperpolarization-activated cyclic nucleotide (HCN)-gated channels
  • is necessary for the modulation of physiological thalamocortical oscillations due to its direct effect on HCN channel expression in thalamus and cortex
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • hyperpolarization activated cyclic nucleotide-gated potassium channel 1, HCN1 (
  • PEX5L-independent trafficking and plasticity of adult cortical presynaptic HCN1 channels
  • PEX5L in the retina is needed to achieve maximal expression of HCN1
  • is a PTS1 receptor
  • interaction strength between cargo and PEX7 is drastically increased in the presence of the co-receptor PEX5L
  • PEX5L binds the HCN cyclic nucleotide-binding domain through a 37-residue domain and the HCN C terminus through the TPR domains
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Trip8b knockout mice is a new model of absence epilepsy, featuring spontaneous spike-wave discharges on electroencephalography (EEG) that are the electrographic hallmark of absence seizures