PEX3 peroxisomal biogenesis factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PEX3provided by HGNC
Official Full Name: peroxisomal biogenesis factor 3provided by HGNC
Primary source: HGNC:HGNC:8858
See related: Ensembl:ENSG00000034693 MIM:603164; AllianceGenome:HGNC:8858
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRG18; PBD10A; PBD10B
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]
Expression: Ubiquitous expression in adrenal (RPKM 15.6), thyroid (RPKM 9.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q24.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (143450805..143490616)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (144643215..144683024)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (143771942..143811753)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.
Title: Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.
rs9390123 and rs9399451 influence the DNA repair capacity of lung cancer by regulating PEX3 and PHACTR2AS1 expression instead of PHACTR2.
Title: rs9390123 and rs9399451 influence the DNA repair capacity of lung cancer by regulating PEX3 and PHACTR2‑AS1 expression instead of PHACTR2.
Quantitative Proteomics and Differential Protein Abundance Analysis after the Depletion of PEX3 from Human Cells Identifies Additional Aspects of Protein Targeting to the ER.
Title: Quantitative Proteomics and Differential Protein Abundance Analysis after the Depletion of PEX3 from Human Cells Identifies Additional Aspects of Protein Targeting to the ER.
studies indicate that Pex3 and Pex19 can also facilitate sorting of certain membrane proteins to other cellular organelles, including the endoplasmic reticulum, lipid droplets, and mitochondria
Title: The peroxisome biogenesis factors Pex3 and Pex19: multitasking proteins with disputed functions.
BAG1, CHMP2B, PEX3, and WIPI1 confirmed a strong differential gene expression, in 355 melanoma samples.
Title: WIPI1, BAG1, and PEX3 Autophagy-Related Genes Are Relevant Melanoma Markers.
Thus, PEX19 and PEX3 peroxisome biogenesis factors provide an alternative posttranslational route for membrane insertion of the reticulon homology domain-containing proteins, implying that endoplasmic reticulum membrane shaping and peroxisome biogenesis may be coordinated.
Title: The peroxisome biogenesis factors posttranslationally target reticulon homology domain-containing proteins to the endoplasmic reticulum membrane.
that newly synthesized UBXD8 is post-translationally inserted into discrete ER subdomains by a mechanism requiring cytosolic PEX19 and membrane-integrated PEX3, proteins hitherto exclusively implicated in peroxisome biogenesis
Title: Peroxin-dependent targeting of a lipid-droplet-destined membrane protein to ER subdomains.
This insertion of PEX3 into the ER is physiologically relevant.
Title: Human Peroxin PEX3 Is Co-translationally Integrated into the ER and Exits the ER in Budding Vesicles.
PEX16 mediates the peroxisomal trafficking of two distinct peroxisomal membrane proteins, PEX3 and PMP34, via the endoplasmic reticulum
Title: PEX16 contributes to peroxisome maintenance by constantly trafficking PEX3 via the ER.
Thus within the cell, PEX3 is stabilized by PEX19 preventing PEX3 aggregation.
Title: Association between the intrinsically disordered protein PEX19 and PEX3.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Peroxisome biogenesis disorder 10A (Zellweger) MedGen: C3553999 OMIM: 614882 GeneReviews: Not available	Compare labs
Peroxisome biogenesis disorder 10B MedGen: C4479254 OMIM: 617370 GeneReviews: Not available	Compare labs

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66143 (e-PCR)
- UniSTS:6183

AL021847 (e-PCR)
- UniSTS:1069

PEX3_1035 (e-PCR)
- UniSTS:277583

PEX3_V288 (e-PCR)
- UniSTS:277583

PMC31832P1 (e-PCR)
- UniSTS:273091

NIB250 (e-PCR)
- UniSTS:56529

VDAC1 (e-PCR)
- UniSTS:279253

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in peroxisome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into peroxisome membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into peroxisome membrane	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in peroxisomal membrane	HDA more info	PubMed
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	TAS Traceable Author Statement more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-lipid complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peroxisomal biogenesis factor 3

Names: peroxin-3; peroxisomal assembly protein PEX3; transformation-related protein 18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.