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Aliases for PEX3 Gene

Aliases for PEX3 Gene

  • Peroxisomal Biogenesis Factor 3 2 3
  • Peroxisomal Assembly Protein PEX3 3 4
  • Peroxin-3 3 4
  • PBD10A 3 6
  • Transformation-Related Protein 18 3
  • TRG18 3

External Ids for PEX3 Gene

Previous GeneCards Identifiers for PEX3 Gene

  • GC06P143395
  • GC06P143619
  • GC06P143752
  • GC06P143813
  • GC06P143772
  • GC06P141335

Summaries for PEX3 Gene

Entrez Gene Summary for PEX3 Gene

  • 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]

GeneCards Summary for PEX3 Gene

PEX3 (Peroxisomal Biogenesis Factor 3) is a Protein Coding gene. Diseases associated with PEX3 include peroxisome biogenesis disorder 10a and zellweger spectrum. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Peroxisome. GO annotations related to this gene include protein dimerization activity and lipid binding.

UniProtKB/Swiss-Prot for PEX3 Gene

  • Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.

Gene Wiki entry for PEX3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX3 Gene

Genomics for PEX3 Gene

Regulatory Elements for PEX3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PEX3 Gene

Start:
143,450,781 bp from pter
End:
143,490,616 bp from pter
Size:
39,836 bases
Orientation:
Plus strand

Genomic View for PEX3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX3 Gene

Proteins for PEX3 Gene

  • Protein details for PEX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56589-PEX3_HUMAN
    Recommended name:
    Peroxisomal biogenesis factor 3
    Protein Accession:
    P56589
    Secondary Accessions:
    • Q6FGP5

    Protein attributes for PEX3 Gene

    Size:
    373 amino acids
    Molecular mass:
    42140 Da
    Quaternary structure:
    • Interacts with PEX19.

    Three dimensional structures from OCA and Proteopedia for PEX3 Gene

neXtProt entry for PEX3 Gene

Proteomics data for PEX3 Gene at MOPED

Post-translational modifications for PEX3 Gene

  • Ubiquitination at Lys100 and Lys262
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PEX3 Gene

Domains for PEX3 Gene

Protein Domains for PEX3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PEX3 Gene

Graphical View of Domain Structure for InterPro Entry

P56589

UniProtKB/Swiss-Prot:

PEX3_HUMAN :
  • P56589
Family:
  • Belongs to the peroxin-3 family.
genes like me logo Genes that share domains with PEX3: view

No data available for Gene Families for PEX3 Gene

Function for PEX3 Gene

Molecular function for PEX3 Gene

GENATLAS Biochemistry: peroxin 3,peroxisomal biogenesis factor 3
UniProtKB/Swiss-Prot Function: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.

Gene Ontology (GO) - Molecular Function for PEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10704444
GO:0008289 lipid binding IDA 19715730
GO:0015171 amino acid transmembrane transporter activity IBA --
GO:0046983 protein dimerization activity IDA 19715730
genes like me logo Genes that share ontologies with PEX3: view
genes like me logo Genes that share phenotypes with PEX3: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEX3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PEX3 Gene

Localization for PEX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX3 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX3 Gene COMPARTMENTS Subcellular localization image for PEX3 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 5
nucleus 4
cytosol 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005777 peroxisome IMP 12924628
GO:0005778 peroxisomal membrane TAS --
GO:0005779 integral component of peroxisomal membrane IDA 10430017
genes like me logo Genes that share ontologies with PEX3: view

Pathways for PEX3 Gene

genes like me logo Genes that share pathways with PEX3: view

Pathways by source for PEX3 Gene

Gene Ontology (GO) - Biological Process for PEX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0003333 amino acid transmembrane transport IBA --
GO:0007031 peroxisome organization IMP 10958759
GO:0016557 peroxisome membrane biogenesis IEA --
GO:0045046 protein import into peroxisome membrane IMP 15007061
genes like me logo Genes that share ontologies with PEX3: view

Transcripts for PEX3 Gene

mRNA/cDNA for PEX3 Gene

Unigene Clusters for PEX3 Gene

Peroxisomal biogenesis factor 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEX3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: -
SP3: - -
SP4:

Relevant External Links for PEX3 Gene

GeneLoc Exon Structure for
PEX3
ECgene alternative splicing isoforms for
PEX3

Expression for PEX3 Gene

mRNA expression in normal human tissues for PEX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PEX3 Gene

This gene is overexpressed in Adrenal Gland (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX3 Gene

SOURCE GeneReport for Unigene cluster for PEX3 Gene Hs.7277

mRNA Expression by UniProt/SwissProt for PEX3 Gene

P56589-PEX3_HUMAN
Tissue specificity: Found in all examined tissues
genes like me logo Genes that share expressions with PEX3: view

In Situ Assay Products

Orthologs for PEX3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX3 35
  • 99.82 (n)
  • 99.46 (a)
PEX3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX3 35
  • 93.48 (n)
  • 96.25 (a)
PEX3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX3 35
  • 92.94 (n)
  • 97.32 (a)
PEX3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex3 35
  • 88.89 (n)
  • 94.09 (a)
Pex3 16
Pex3 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX3 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX3 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex3 35
  • 87.46 (n)
  • 94.35 (a)
chicken
(Gallus gallus)
Aves PEX3 35
  • 79.77 (n)
  • 85.91 (a)
PEX3 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX3 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11335 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pex3 35
  • 71.75 (n)
  • 78.75 (a)
Str.3981 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10419 35
zebrafish
(Danio rerio)
Actinopterygii pex3 35
  • 69.91 (n)
  • 77.22 (a)
pex3 36
  • 77 (a)
OneToOne
zgc56313 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002507 35
  • 44.64 (n)
  • 36.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pex3 35
  • 47.35 (n)
  • 40.29 (a)
Pex3 36
  • 34 (a)
OneToOne
CG6859 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea prx-3 36
  • 24 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR296C 35
  • 38.87 (n)
  • 29.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX3 35
  • 42.09 (n)
  • 27.74 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16963g 35
  • 46.67 (n)
  • 36.67 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX3-1 35
  • 45.22 (n)
  • 31.4 (a)
rice
(Oryza sativa)
Liliopsida Os09g0314300 35
  • 45.96 (n)
  • 30.77 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06175 35
  • 42.19 (n)
  • 30.41 (a)
Species with no ortholog for PEX3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEX3 Gene

ENSEMBL:
Gene Tree for PEX3 (if available)
TreeFam:
Gene Tree for PEX3 (if available)

Paralogs for PEX3 Gene

No data available for Paralogs for PEX3 Gene

Variants for PEX3 Gene

Sequence variations from dbSNP and Humsavar for PEX3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs10809 -- 143,489,772(+) GAAAT(A/G)GTGAA utr-variant-3-prime
rs22908 -- 143,471,538(-) AACAA(A/G)CCTAA intron-variant
rs161056 -- 143,486,521(-) TTACA(C/G)TAAAA intron-variant
rs161057 -- 143,485,414(-) TGGTC(C/T)GTTAT intron-variant
rs161058 -- 143,485,139(-) ATCAT(C/T)ACAGT intron-variant

Relevant External Links for PEX3 Gene

HapMap Linkage Disequilibrium report
PEX3
Human Gene Mutation Database (HGMD)
PEX3
Locus Specific Mutation Databases (LSDB)
PEX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PEX3 Gene

Disorders for PEX3 Gene

(1) OMIM Diseases for PEX3 Gene (603164)

UniProtKB/Swiss-Prot

PEX3_HUMAN
  • Peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:614882]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:10848631, ECO:0000269 PubMed:10958759}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for PEX3 Gene

Disease -log(P) Hits PubMed IDs
zellweger syndrome 90.4 5

Relevant External Links for PEX3

GeneTests
PEX3
GeneReviews
PEX3
genes like me logo Genes that share disorders with PEX3: view

Publications for PEX3 Gene

  1. Identification and characterization of the human peroxin PEX3. (PMID: 10430017) Soukupova M. … Dodt G. (Eur. J. Cell Biol. 1999) 3 4 23
  2. The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes. (PMID: 10679269) Muntau A.C. … Kammerer S. (Biochem. Biophys. Res. Commun. 2000) 3 4 23
  3. The peroxin pex3p initiates membrane assembly in peroxisome biogenesis. (PMID: 10848631) Ghaedi K. … Fujiki Y. (Mol. Biol. Cell 2000) 3 4 23
  4. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. (PMID: 10958759) Muntau A.C. … Roscher A.A. (Am. J. Hum. Genet. 2000) 3 4 23
  5. PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins. (PMID: 15007061) Fang Y. … Gould S.J. (J. Cell Biol. 2004) 3 4 23

Products for PEX3 Gene

Sources for PEX3 Gene

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