PEX5 - peroxisomal biogenesis factor 5 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5830

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	References	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	References	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	References	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_1

0
100
200
300
400
500
600
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	References
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

Pre-clinical Phase

Bioactive Molecules (6)

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 Set	/	Unkown
HY-RS10352	PEX5L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-175517	PEX5-PEX14 PPI-IN-3	Inhibitor	/	Unkown
HY-182443	PEX5-PEX14 PPI-IN-4	Inhibitor	/	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
Others	PEX5	NCBI