PEX3 - peroxisomal biogenesis factor 3 Gene

Also Known as TRG18; PBD10A; PBD10B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8504

About PEX3

Cytogenetic location: 6q24.2 Genomic coordinates (GRCh38): 6:143,450,805-143,490,616 (from NCBI)

This gene has 3 transcripts (splice variants), 118 orthologues and is associated with 8 phenotypes. Ubiquitous expression in adrenal (RPKM 15.6), thyroid (RPKM 9.4) and 25 other tissues.

Summary

The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

PEX3 Products (1)

mRNA	Protein	Name
NM_003630.3	NP_003621.1	peroxisomal biogenesis factor 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables lipid binding	IDA IDA: Inferred from direct assay	19715730	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10704444	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in peroxisome organization	IMP IMP: Inferred from mutant phenotype	10958759	GOA
involved in protein import into peroxisome membrane	IMP IMP: Inferred from mutant phenotype	15007061	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19479899	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	9657383	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9922452	GOA
located in peroxisome	IMP IMP: Inferred from mutant phenotype	12924628	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	18174172	GOA
part of protein-lipid complex	IDA IDA: Inferred from direct assay	19715730	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

PEX3 Protein Structure

Peroxin-3

0
100
200
300
373 a.a.

Protein Preferred Names	Protein Names
peroxisomal biogenesis factor 3	peroxin-3

PEX3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PEX3	P56589	PEX16	Homo sapiens	Q9Y5Y5	BRET	38225382
Intra	PEX3	P56589	PEX16	Homo sapiens	Q9Y5Y5	Validated Y2H	32296183
Intra	PEX3	P56589	PEX16	Homo sapiens	Q9Y5Y5	Anti Tag CoIP	16280322

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Peroxisome Biogenesis Disorder 10b	PBD10B
Peroxisome Biogenesis Disorder 10a	PBD10A Peroxisome Biogenesis Disorder Complementation Group 12 PBD-CG12 Cg12 Pbd-Cgg Peroxisome Biogenesis Disorder Complementation Group G Peroxisome Biogenesis Disorder, Type 10a Peroxisome Biogenesis Disorder, Complementation Group 12
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 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
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
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Acatalasemia	Acatalasia Catalase Deficiency Deficiency Of Catalase ACATLAS Takahara'S Disease Takahara Disease
Neurogenic Bladder	Neurogenic Dysfunction Of The Urinary Bladder Neurogenic Urinary Bladder Disorder Neuropathic Bladder Bladder Neurogenic Urinary Bladder, Neurogenic Neurogenic Urinary Bladder
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
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
Spastic Paraparesis
Neonatal Jaundice	Neonatal Hyperbilirubinemia Neonatal Icterus Jaundice Neonatal Jaundice, Neonatal Hyperbilirubinemia, Neonatal
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Non-Gestational Choriocarcinoma	Choriocarcinoma, Non-Gestational
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10350	PEX3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22275	Pex3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28798	Pex3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PEX3	RGD	RGD:621636
Bos taurus	PEX3	VGNC	VGNC:32760
Canis familiaris	PEX3	VGNC	VGNC:44434
Mus musculus	PEX3	MGD	MGI:1929646
Felis catus	PEX3	VGNC	VGNC:68796
Macaca mulatta	PEX3	VGNC	VGNC:75951
Others	PEX3	NCBI