Human Gene PEX3 (R16614)
  Description: peroxisomal biogenesis factor 3
RefSeq Summary (NM_003630): 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].
Transcript (Including UTRs)
   Position: hg17 chr6:143,813,810-143,852,834 Size: 39,025 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg17 chr6:143,813,873-143,852,056 Size: 38,184 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsCTDMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Methods
Data last updated at UCSC: 2005-06-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:143,813,810-143,852,834)mRNA (may differ from genome)Protein (373 aa)
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-  Comments and Description Text from UniProtKB
  ID: PEX3_HUMAN
DESCRIPTION: RecName: Full=Peroxisomal biogenesis factor 3; AltName: Full=Peroxin-3; AltName: Full=Peroxisomal assembly protein PEX3;
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.
SUBUNIT: Interacts with PEX19.
INTERACTION: P40855:PEX19; NbExp=4; IntAct=EBI-594885, EBI-594747;
SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Found in all examined tissues.
DISEASE: Defects in PEX3 are the cause of peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:603164]; also known as PBD-CGG. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: 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. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies.
DISEASE: Defects in PEX3 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.
SIMILARITY: Belongs to the peroxin-3 family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX3";

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.0063-0.175 Picture PostScript Text
3' UTR -149.20778-0.192 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006966 - Peroxin-3

Pfam Domains:
PF04882 - Peroxin-3

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3AJB
- X-ray

3MK4
- X-ray


ModBase Predicted Comparative 3D Structure on P56589
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
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Protein Sequence  Protein SequenceProtein SequenceProtein Sequence
Alignment  AlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0046983 protein dimerization activity

Biological Process:
GO:0007031 peroxisome organization
GO:0016557 peroxisome membrane biogenesis
GO:0045046 protein import into peroxisome membrane
GO:0055085 transmembrane transport

Cellular Component:
GO:0005654 nucleoplasm
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032991 macromolecular complex
GO:0032994 protein-lipid complex


-  Descriptions from all associated GenBank mRNAs
  BC014551 - Homo sapiens peroxisomal biogenesis factor 3, mRNA (cDNA clone MGC:13693 IMAGE:4333011), complete cds.
BC015506 - Homo sapiens peroxisomal biogenesis factor 3, mRNA (cDNA clone MGC:9125 IMAGE:3914956), complete cds.
AB035307 - Homo sapiens mRNA for Pex3p, complete cds.
AK300907 - Homo sapiens cDNA FLJ57497 complete cds, highly similar to Peroxisomal biogenesis factor 3.
AK025644 - Homo sapiens cDNA: FLJ21991 fis, clone HEP06475, highly similar to HSPEX3P Homo sapiens mRNA for Pex3 protein.
AJ001625 - Homo sapiens mRNA for Pex3 protein.
AJ131389 - Homo sapiens mRNA for PEX3 protein, partial.
JD488653 - Sequence 469677 from Patent EP1572962.
AY277600 - Homo sapiens transformation-related protein 18 (TRG18) mRNA, complete cds.
CU677325 - Synthetic construct Homo sapiens gateway clone IMAGE:100017123 5' read PEX3 mRNA.
CR542062 - Homo sapiens full open reading frame cDNA clone RZPDo834A1236D for gene PEX3, peroxisomal biogenesis factor 3; complete cds, without stopcodon.
KJ892547 - Synthetic construct Homo sapiens clone ccsbBroadEn_01941 PEX3 gene, encodes complete protein.
BX648803 - Homo sapiens mRNA; cDNA DKFZp686N14184 (from clone DKFZp686N14184).
JD067195 - Sequence 48219 from Patent EP1572962.
JD357721 - Sequence 338745 from Patent EP1572962.
JD078766 - Sequence 59790 from Patent EP1572962.
AK023593 - Homo sapiens cDNA FLJ13531 fis, clone PLACE1006288, highly similar to VOLTAGE-DEPENDENT ANION-SELECTIVE CHANNEL PROTEIN 1.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04146 - Peroxisome

Reactome (by CSHL, EBI, and GO)

Protein P56589 (Reactome details) participates in the following event(s):

R-HSA-382613 PEX-19 docks ABCD1/D2/D3 to peroximal membrane
R-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: AB035307, AJ001625, AJ131389, AK025644, BC014551, BC015506, CR593089, CR595026, CR615782, CR621449
UCSC ID: NM_003630
RefSeq Accession: NM_003630
Protein: P56589 (aka PEX3_HUMAN)
CCDS: CCDS5199.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.