2. Gene
  3. PEX5 - peroxisomal biogenesis factor 5 Gene

PEX5 - peroxisomal biogenesis factor 5 Gene

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

Also known as PXR1; PBD2A; PBD2B; PTS1R; RCDP5; PTS1-BP

Gene ID: 5830 | Gene type: protein coding

About PEX5

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:7,188,653-7,218,574 (from NCBI)

This gene has 21 transcripts (splice variants), 1 gene allele, 215 orthologues, 1 paralogue and is associated with 9 phenotypes. Ubiquitous expression in testis (RPKM 16.9), brain (RPKM 10.8) and 25 other tissues.

Summary

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

PEX5 Products(26)

mRNA Protein Name
NM_000319.5 NP_000310.2 peroxisomal biogenesis factor 5 isoform b
NM_001131023.2 NP_001124495.1 peroxisomal biogenesis factor 5 isoform a
NM_001131024.2 NP_001124496.1 peroxisomal biogenesis factor 5 isoform c
NM_001131025.2 NP_001124497.1 peroxisomal biogenesis factor 5 isoform d
NM_001131026.2 NP_001124498.1 peroxisomal biogenesis factor 5 isoform d
NM_001300789.3 NP_001287718.2 peroxisomal biogenesis factor 5 isoform d
NM_001351124.3 NP_001338053.1 peroxisomal biogenesis factor 5 isoform c
NM_001351126.2 NP_001338055.1 peroxisomal biogenesis factor 5 isoform c
NM_001351127.2 NP_001338056.1 peroxisomal biogenesis factor 5 isoform c
NM_001351128.2 NP_001338057.1 peroxisomal biogenesis factor 5 isoform c
NM_001351130.3 NP_001338059.1 peroxisomal biogenesis factor 5 isoform c
NM_001351131.2 NP_001338060.1 peroxisomal biogenesis factor 5 isoform d
NM_001351132.2 NP_001338061.1 peroxisomal biogenesis factor 5 isoform d
NM_001351133.2 NP_001338062.1 peroxisomal biogenesis factor 5 isoform d
NM_001351134.2 NP_001338063.1 peroxisomal biogenesis factor 5 isoform d
NM_001351135.3 NP_001338064.2 peroxisomal biogenesis factor 5 isoform i
NM_001351136.2 NP_001338065.1 peroxisomal biogenesis factor 5 isoform g
NM_001351137.3 NP_001338066.2 peroxisomal biogenesis factor 5 isoform c
NM_001351138.2 NP_001338067.1 peroxisomal biogenesis factor 5 isoform i
NM_001351139.2 NP_001338068.1 peroxisomal biogenesis factor 5 isoform j
NM_001351140.2 NP_001338069.1 peroxisomal biogenesis factor 5 isoform j
NM_001374645.1 NP_001361574.1 peroxisomal biogenesis factor 5 isoform c
NM_001374646.1 NP_001361575.1 peroxisomal biogenesis factor 5 isoform c
NM_001374647.2 NP_001361576.1 peroxisomal biogenesis factor 5 isoform d
NM_001374648.2 NP_001361577.1 peroxisomal biogenesis factor 5 isoform c
NM_001374649.2 NP_001361578.1 peroxisomal biogenesis factor 5 isoform j
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables enzyme binding IPI
IPI: Inferred from physical interaction
11060344 GOA
enables peroxisome matrix targeting signal-1 binding IDA
IDA: Inferred from direct assay
7719337 GOA
enables peroxisome matrix targeting signal-1 binding IMP
IMP: Inferred from mutant phenotype
9668159 GOA
enables peroxisome matrix targeting signal-1 binding IPI
IPI: Inferred from physical interaction
21375735 GOA
enables peroxisome membrane targeting sequence binding IPI
IPI: Inferred from physical interaction
21976670 GOA
enables peroxisome targeting sequence binding IDA
IDA: Inferred from direct assay
18346465 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8858165 GOA
enables protein carrier chaperone IDA
IDA: Inferred from direct assay
11546814 GOA
enables protein carrier chaperone IMP
IMP: Inferred from mutant phenotype
33389129 GOA
enables small GTPase binding IPI
IPI: Inferred from physical interaction
18346465 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular response to reactive oxygen species IDA
IDA: Inferred from direct assay
26344566 GOA
involved in negative regulation of protein-containing complex assembly IDA
IDA: Inferred from direct assay
21976670 GOA
involved in pexophagy IDA
IDA: Inferred from direct assay
26344566 GOA
involved in protein import into peroxisome matrix IDA
IDA: Inferred from direct assay
11546814 GOA
involved in protein import into peroxisome matrix IGI
IGI: Inferred from genetic interaction
11931631 GOA
involved in protein import into peroxisome matrix IMP
IMP: Inferred from mutant phenotype
11463335 GOA
involved in protein import into peroxisome matrix, docking IDA
IDA: Inferred from direct assay
21976670 GOA
involved in protein import into peroxisome matrix, receptor recycling IDA
IDA: Inferred from direct assay
11336669 GOA
involved in protein import into peroxisome matrix, substrate release IDA
IDA: Inferred from direct assay
26344566 GOA
involved in protein import into peroxisome matrix, translocation IDA
IDA: Inferred from direct assay
7719337 GOA
involved in protein import into peroxisome membrane IMP
IMP: Inferred from mutant phenotype
14709540 GOA
involved in protein targeting to peroxisome IDA
IDA: Inferred from direct assay
21375735 GOA
involved in protein targeting to peroxisome IMP
IMP: Inferred from mutant phenotype
9668159 GOA
involved in protein tetramerization IDA
IDA: Inferred from direct assay
12456682 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
10514471 GOA
is active in cytosol IDA
IDA: Inferred from direct assay
16314507 GOA
located in cytosol IDA
IDA: Inferred from direct assay
7719337 GOA
located in membrane IDA
IDA: Inferred from direct assay
10514471 GOA
is active in peroxisomal matrix IDA
IDA: Inferred from direct assay
11546814 GOA
located in peroxisomal matrix IDA
IDA: Inferred from direct assay
11336669 GOA
is active in peroxisomal matrix IMP
IMP: Inferred from mutant phenotype
33389129 GOA
located in peroxisome IDA
IDA: Inferred from direct assay
7719337 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
19584060 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

PEX5 Protein Structure

TPR_11

TPR_11: TPR repeat (339 - 400)

TPR_11

TPR_11: TPR repeat (494 - 553)

TPR_1

TPR_1: Tetratricopeptide repeat (558 - 585)

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  • 639 a.a.
Protein Preferred Names Protein Names

peroxisomal biogenesis factor 5

PTS1 receptor

PEX5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra PEX5 P50542 a8k3q9_human Homo sapiens A8K3Q9
Y2H Prey Pooling
25416956
Intra PEX5 P50542 a8k3q9_human Homo sapiens A8K3Q9
Y2H Array
25416956
Intra PEX5 P50542 MKRN3 Homo sapiens Q6NSB6
Y2H Array
25416956
Intra PEX5 P50542 ZNF772 Homo sapiens Q68DY9
Y2H Array
25416956
Intra PEX5 P50542 ZNF772 Homo sapiens Q68DY9
Y2H Prey Pooling
25416956
Intra PEX5 P50542 TOM7 Homo sapiens Q75MR5
Validated Y2H
25416956
Intra PEX5 P50542 TOM7 Homo sapiens Q75MR5
Y2H Array
25416956
Intra PEX5 P50542 TOM7 Homo sapiens Q75MR5
Y2H Prey Pooling
25416956
Intra PEX5 P50542 TM6SF1 Homo sapiens Q8N5N8
Validated Y2H
25416956
Intra PEX5 P50542 ACOT8 Homo sapiens O14734
Y2H Prey Pooling
25416956
Intra PEX5 P50542 ACOT8 Homo sapiens O14734
Validated Y2H
25416956
Intra PEX5 P50542 ACOT8 Homo sapiens O14734
Y2H Array
25416956
Intra PEX5 P50542 GDPD5 Homo sapiens Q8WTR4
Y2H Prey Pooling
25416956
Intra PEX5 P50542 S100A6 Homo sapiens P06703
Validated Y2H
25416956
Intra PEX5 P50542 LDHB Homo sapiens P07195
Y2H Prey Pooling
25416956
Intra PEX5 P50542 PEX12 Homo sapiens O00623
Anti Tag CoIP
10562279
Intra PEX5 P50542 PEX14 Homo sapiens O75381
NMR
19197237
Intra PEX5 P50542 PEX14 Homo sapiens O75381
Y2H
12096124
Intra PEX5 P50542 PEX14 Homo sapiens O75381
IF
19197237
Intra PEX5 P50542 CAPRIN2 Homo sapiens Q6IMN6
Y2H Array
25416956
Intra PEX5 P50542 CAPRIN2 Homo sapiens Q6IMN6
Y2H Prey Pooling
25416956
Intra PEX5 P50542 CAPRIN2 Homo sapiens Q6IMN6
Validated Y2H
25416956
Intra PEX5 P50542 TINF2 Homo sapiens Q9BSI4
Pull Down
21044950
Intra PEX5 P50542 PRR13 Homo sapiens Q9NZ81
Y2H Prey Pooling
25416956
Intra PEX5 P50542 PRR13 Homo sapiens Q9NZ81
Y2H Array
25416956
Intra PEX5 P50542 CCDC14 Homo sapiens Q49A88
Y2H Array
25416956
Intra PEX5 P50542 RPL14 Homo sapiens Q6IPH7
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Rhizomelic Chondrodysplasia Punctata, Type 5

Rhizomelic Chondrodysplasia Punctata Type 5

RCDP5

Rhizomelic Chondrodysplasia Punctata 5

Chondrodysplasia Punctata, Rhizomelic, Type 5
Peroxisome Biogenesis Disorder 2b

PBD2B

Peroxisome Biogenesis Disorder, Type 2b
Peroxisome Biogenesis Disorder 2a

PBD2A

Peroxisome Biogenesis Disorder Complementation Group 2

PBD-CG2

Cg1

Pbd-Cge

Peroxisome Biogenesis Disorder Complementation Group E

Peroxisome Biogenesis Disorder, Type 2a
Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic

Rcdp

Chondrodysplasia Punctata, Rhizomelic Form

Rcp

Chondrodysplasia Punctata Rhizomelic
Peroxisome Biogenesis Disorder 1a

PBD1A

Zs

Zws

Cerebrohepatorenal Syndrome

Chr

Zellweger Syndrome

Cerebro-Hepato-Renal Syndrome

Chr Syndrome

Zellweger'S Syndrome

Peroxisome Biogenesis Disorder Complementation Group 1

PBD-CG1

Cg1

Pbd-Cge

Peroxisome Biogenesis Disorder Complementation Group E

Peroxisome Biogenesis Disorder, Complementation Group 1

Cerebrohepatorenal Syndrome, Variant Types

Peroxisome Biogenesis Disorder Type 1a

Peroxisome Biogenesis Disorder, Type 1a
Neonatal Adrenoleukodystrophy

Nald

Adrenoleukodystrophy Autosomal Neonatal Form

Intermediate Pbd-Zsd

Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Adrenoleukodystrophy, Autosomal, Neonatal Form

Adrenoleukodystrophy Neonatal

Adrenoleukodystrophy, Neonatal
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
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
Peroxisomal Disease

Peroxisomal Disorder

Peroxisomal Disorders

Peroxisomal Defects
Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey
Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy

ALD

Siemerling-Creutzfeldt Disease

X-Ald

X-Linked Cerebral Adrenoleukodystrophy

Bronze Schilder Disease

Melanodermic Leukodystrophy

Addison Disease And Cerebral Sclerosis

Adrenomyeloneuropathy, Adult

Diffuse Sclerosis

X-Cald

Adrenomyeloneuropathy

Encephalitis Periaxialis Concentrica

Encephalitis Periaxialis, Schilder'S

Sudanophilic Cerebral Sclerosis

Ald Childhood Cerebral Form

Adrenoleukodystrophy X-Linked Cerebral Form

Adrenoleukodystrophy Childhood Cerebral Form

Childhood Cerebral Ald

Schilder Disease

X-Linked Ald

Adrenoleukodystrophy, X-Linked

Amn

Diffuse Cerebral Sclerosis Of Schilder

Systemic Scleroderma

Balo'S Concentric Sclerosis

Ald - [Adrenoleukodystrophy]

Addison-Schilder
Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I
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
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
Chondrodysplasia Punctata Syndrome

Chondrodysplasia Punctata

Chondrodysplasia Punctata Congenita

Toriello Higgins Miller Syndrome

Chondrodysplasia Punctata, Toriello Type

Toriello-Higgins-Miller Syndrome

Cdp

Chondrodysplasia Punctata, X-Linked Dominant Type

Chondrodysplasia Punctata Group

Dysplasia Punctata Epiphysis

Dysplasia Punctata

Dysplasia Epiphysealis Punctata

Chondrodystrophy Of Punctata
Refsum Disease, Classic

Refsum Disease

Heredopathia Atactica Polyneuritiformis

Phytanic Acid Oxidase Deficiency

Hmsn Iv

Refsum Disease, Adult, 1

Refsum'S Disease

Phytanic Acid Storage Disease

Hereditary Motor And Sensory Neuropathy Iv

Hmsn4

Hmsn Type Iv

Hmsn 4

Adult Refsum Disease

Classic Refsum Disease

Hereditary Motor And Sensory Neuropathy Type Iv

Refsum Syndrome

Hsmn Iv

Disorder Of Cornification 11

Doc 11

Hereditary Sensory And Motor Neuropathy Type 4

Hypertrophic Neuropathy Of Refsum

Ard

Crd

Hereditary Motor And Sensory Neuropathy Type 4

Phytanic-Coa Hydroxylase Deficiency

RD
Rhizomelic Chondrodysplasia Punctata, Type 2

Rhizomelic Chondrodysplasia Punctata Type 2

Dihydroxyacetonephosphate Acyltransferase Deficiency

RCDP2

Dhapat Deficiency

Glyceronephosphate O-Acyltransferase Deficiency

Gnpat Deficiency

Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency

Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency

Chondrodysplasia Punctata, Rhizomelic, Type 2

Rhizomelic Chondrodysplasia Punctata 2
Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Leukodystrophy

Leukodystrophies
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 (4)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-155530 PEX5-PEX14 PPI-IN-1 / Unkown
HY-155531 PEX5-PEX14 PPI-IN-2 / Unkown
HY-RS10351 PEX5 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS10352 PEX5L Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta PEX5 VGNC VGNC:76016
Bos taurus PEX5 VGNC VGNC:32761
Canis familiaris PEX5 VGNC VGNC:44435
Rattus norvegicus PEX5 RGD RGD:1307612
Felis catus PEX5 VGNC VGNC:69190
Mus musculus PEX5 MGD MGI:1098808