PEX5L (peroxisomal biogenesis factor 5 like)

2014-11-01  

Identity

HGNC
LOCATION
3q26.33
LOCUSID
ALIAS
PEX5R,PEX5RP,PXR2,PXR2B,TRIP8b
FUSION GENES

Other Information

Locus ID:

NCBI: 51555
MIM: 611058
HGNC: 30024
Ensembl: ENSG00000114757

Variants:

dbSNP: 51555
ClinVar: 51555
TCGA: ENSG00000114757
COSMIC: PEX5L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114757ENST00000263962Q8IYB4
ENSG00000114757ENST00000392649Q8IYB4
ENSG00000114757ENST00000463761C9JUZ5
ENSG00000114757ENST00000464614Q8IYB4
ENSG00000114757ENST00000465751Q8IYB4
ENSG00000114757ENST00000467460Q8IYB4
ENSG00000114757ENST00000468741Q8IYB4
ENSG00000114757ENST00000469198C9JB85
ENSG00000114757ENST00000472994Q8IYB4
ENSG00000114757ENST00000476138Q8IYB4
ENSG00000114757ENST00000485199Q8IYB4
ENSG00000114757ENST00000491640C9JZE2
ENSG00000114757ENST00000496721C9IZ09

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
251970932014Structural basis for the mutual antagonism of cAMP and TRIP8b in regulating HCN channel function.38
215049002011Trafficking and gating of hyperpolarization-activated cyclic nucleotide-gated channels are regulated by interaction with tetratricopeptide repeat-containing Rab8b-interacting protein (TRIP8b) and cyclic AMP at distinct sites.37
225501822012Structure and stoichiometry of an accessory subunit TRIP8b interaction with hyperpolarization-activated cyclic nucleotide-gated channels.28
230770682012TRIP8b-independent trafficking and plasticity of adult cortical presynaptic HCN1 channels.18
255382322015Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7.9
288647722017Mechanism for the inhibition of the cAMP dependence of HCN ion channels by the auxiliary subunit TRIP8b.7
244513872014Nedd4-2 regulates surface expression and may affect N-glycosylation of hyperpolarization-activated cyclic nucleotide-gated (HCN)-1 channels.6
288873042017Allostery between two binding sites in the ion channel subunit TRIP8b confers binding specificity to HCN channels.5

Citation

Dessen P

PEX5L (peroxisomal biogenesis factor 5 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71843/pex5l