PEX5L - peroxisomal biogenesis factor 5 like Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51555

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 Referencias 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 Referencias 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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  • 500
  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS10352 PEX5L Human Pre-designed siRNA Set A Pre-designed Set / 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