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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	242.10 kb     15 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D3S3699 - D3S3565 - PEX5L - D3S3603 - D3S3662 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016559 15 - 9205 NP_05764 - 626 - 2014 25197093 NM_001349404 11 - 8721 NP_001336333 - 434 - 2014 25197093 NM_001349401 12 - 8916 NP_001336330 - 434 - 2014 25197093 NM_001256753 13 - 9028 NP_001243682 - 567 - 2014 25197093 NM_001349399 13 - 9021 NP_001336328 - 434 - 2014 25197093 NM_001349398 13 - 8938 NP_001336327 - 537 - 2014 25197093 NM_001256751 14 - 9133 NP_001243680 - 602 - 2014 25197093 NM_001349396 14 - 9004 NP_001336325 - 559 - 2014 25197093 NM_001256750 15 - 9199 NP_001243679 - 624 - 2014 25197093 NM_001256752 14 - 9100 NP_001243681 - 591 - 2014 25197093 NM_001349389 16 - 9271 NP_001336318 - 648 - 2014 25197093 NM_001349410 13 - 8635 NP_001336339 - 434 - 2014 25197093 NM_001256756 14 - 8830 NP_001243685 - 434 - 2014 25197093 NM_001349409 14 - 8823 NP_001336338 - 434 - 2014 25197093 NM_001256755 14 - 8740 NP_001243684 - 518 - 2014 25197093 NM_001256754 15 - 8935 NP_001243683 - 583 - 2014 25197093 NM_001349406 14 - 8878 NP_001336335 - 434 - 2014 25197093 NM_001349397 13 - 9492 NP_001336326 - 550 - 2014 25197093 NM_001349393 15 - 8990 NP_001336322 - 615 - 2014 25197093 NM_001349408 15 - 8983 NP_001336337 - 434 - 2014 25197093 NM_001349394 15 - 8900 NP_001336323 - 585 - 2014 25197093 NM_001349387 16 - 9095 NP_001336316 - 650 - 2014 25197093 NM_001349395 15 - 8939 NP_001336324 - 583 - 2014 25197093 NM_001349390 15 - 8994 NP_001336319 - 646 - 2014 25197093 NM_001349391 15 - 8904 NP_001336320 - 616 - 2014 25197093 NM_001349392 14 - 9687 NP_001336321 - 615 - 2014 25197093 NM_001349388 15 - 9792 NP_001336317 - 650 - 2014 25197093

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Homo sapiens Visual eye retina       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