2. Gene
  3. PEX5L - peroxisomal biogenesis factor 5 like Gene

PEX5L - peroxisomal biogenesis factor 5 like Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PXR2; PEX5R; PXR2B; PEX5RP; TRIP8b

Gene ID: 51555 | Gene type: protein coding

About PEX5L

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:179,794,958-180,036,937 (from NCBI)

This gene has 18 transcripts (splice variants), 269 orthologues and 1 paralogue. Biased expression in brain (RPKM 6.5), testis (RPKM 0.6) and 1 other tissue.

Summary

Enables peroxisome matrix targeting signal-1 binding activity and small GTPase binding activity. Predicted to be involved in protein import into peroxisome matrix, docking and regulation of cAMP-mediated signaling. Predicted to act upstream of or within maintenance of protein location and regulation of membrane potential. Located in cytosol. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022]

PEX5L Products(28)

mRNA Protein Name
NM_001256750.2 NP_001243679.1 PEX5-related protein isoform 2
NM_001256751.2 NP_001243680.1 PEX5-related protein isoform 3
NM_001256752.2 NP_001243681.1 PEX5-related protein isoform 4
NM_001256753.2 NP_001243682.1 PEX5-related protein isoform 5
NM_001256754.2 NP_001243683.1 PEX5-related protein isoform 6
NM_001256755.2 NP_001243684.1 PEX5-related protein isoform 7
NM_001256756.2 NP_001243685.1 PEX5-related protein isoform 8
NM_001349386.2 NP_001336315.1 PEX5-related protein isoform 9
NM_001349387.2 NP_001336316.1 PEX5-related protein isoform 10
NM_001349388.2 NP_001336317.1 PEX5-related protein isoform 10
NM_001349389.2 NP_001336318.1 PEX5-related protein isoform 11
NM_001349390.2 NP_001336319.1 PEX5-related protein isoform 12
NM_001349391.2 NP_001336320.1 PEX5-related protein isoform 13
NM_001349392.2 NP_001336321.1 PEX5-related protein isoform 14
NM_001349393.2 NP_001336322.1 PEX5-related protein isoform 14
NM_001349394.2 NP_001336323.1 PEX5-related protein isoform 15
NM_001349395.2 NP_001336324.1 PEX5-related protein isoform 6
NM_001349396.2 NP_001336325.1 PEX5-related protein isoform 16
NM_001349397.2 NP_001336326.1 PEX5-related protein isoform 17
NM_001349398.2 NP_001336327.1 PEX5-related protein isoform 18
NM_001349399.2 NP_001336328.1 PEX5-related protein isoform 8
NM_001349401.2 NP_001336330.1 PEX5-related protein isoform 8
NM_001349404.2 NP_001336333.1 PEX5-related protein isoform 8
NM_001349406.2 NP_001336335.1 PEX5-related protein isoform 8
NM_001349408.2 NP_001336337.1 PEX5-related protein isoform 8
NM_001349409.2 NP_001336338.1 PEX5-related protein isoform 8
NM_001349410.2 NP_001336339.1 PEX5-related protein isoform 8
NM_016559.3 NP_057643.1 PEX5-related protein isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables peroxisome matrix targeting signal-1 binding IDA
IDA: Inferred from direct assay
11463335 GOA
enables peroxisome targeting sequence binding IDA
IDA: Inferred from direct assay
18346465 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25800552 GOA
enables small GTPase binding IPI
IPI: Inferred from physical interaction
18346465 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytosol IDA
IDA: Inferred from direct assay
11463335 GOA
part of receptor complex IDA
IDA: Inferred from direct assay
23382219 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PEX5L Protein Structure

TPR_1

TPR_1: Tetratricopeptide repeat (360 - 393)

TPR_11

TPR_11: TPR repeat (478 - 539)

TPR_1

TPR_1: Tetratricopeptide repeat (544 - 573)

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  • 626 a.a.
Protein Preferred Names Protein Names

PEX5-related protein

HCN channel auxiliary subunit

Related Diseases

Diseases Alias
Rhizomelic Chondrodysplasia Punctata, Type 5

Rhizomelic Chondrodysplasia Punctata Type 5

RCDP5

Rhizomelic Chondrodysplasia Punctata 5

Chondrodysplasia Punctata, Rhizomelic, Type 5
Rhizomelic Chondrodysplasia Punctata, Type 1

Rhizomelic Chondrodysplasia Punctata Type 1

RCDP1

Peroxisome Biogenesis Disorder 9

Pbd9

Chondrodysplasia Punctata, Rhizomelic Form

Cdpr

Chondrodystrophia Calcificans Punctata

Rhizomelic Chondrodysplasia Punctata 1

Chondrodysplasia Punctata, Rhizomelic, Type 1

Chondrodysplasia Punctata, Rhizomelic
Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic

Rcdp

Chondrodysplasia Punctata, Rhizomelic Form

Rcp

Chondrodysplasia Punctata Rhizomelic
Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia
Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder

Infantile Refsum Disease

Infantile Phytanic Acid Storage Disease

PBD1B

Refsum Disease, Infantile

Adrenoleukodystrophy, Autosomal Neonatal

Ird

Mild Pbd-Zsd

Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Pbd-Zsd

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Autosomal Neonatal Adrenoleukodystrophy

Refsum Disease Infantile

Peroxisome Biogenesis Disorders

Peroxisome Biogenesis Disorder, Type 1b
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10352 PEX5L Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta PEX5L VGNC VGNC:75889
Bos taurus PEX5L VGNC VGNC:32762
Mus musculus PEX5L MGD MGI:1916672
Canis familiaris PEX5L VGNC VGNC:44436
Felis catus PEX5L VGNC VGNC:64116
Rattus norvegicus PEX5L RGD RGD:708407