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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
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain     Homo sapiens
Visualeyeretina    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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