Human Gene PEX12 (R7799)
  Description: peroxisomal biogenesis factor 12
RefSeq Summary (NM_000286): This gene belongs to the peroxin-12 family. 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008].
Transcript (Including UTRs)
   Position: hg17 chr17:30,925,928-30,929,687 Size: 3,760 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg17 chr17:30,926,914-30,929,153 Size: 2,240 Coding Exon Count: 3 

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 (chr17:30,925,928-30,929,687)mRNA (may differ from genome)Protein (359 aa)
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ReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: PEX12_HUMAN
DESCRIPTION: RecName: Full=Peroxisome assembly protein 12; AltName: Full=Peroxin-12; AltName: Full=Peroxisome assembly factor 3; Short=PAF-3;
FUNCTION: Required for protein import into peroxisomes.
SUBUNIT: Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain.
INTERACTION: P40855:PEX19; NbExp=2; IntAct=EBI-594836, EBI-594747; P50542:PEX5; NbExp=3; IntAct=EBI-594836, EBI-597835;
SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein.
DISEASE: Defects in PEX12 are the cause of peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:601758]. 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 PEX12 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 pex2/pex10/pex12 family.
SIMILARITY: Contains 1 RING-type zinc finger.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX12";
WEB RESOURCE: Name=dbPEX, PEX Gene Database; URL="http://www.dbpex.org/home.php?select_db=PEX12";

-  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 -171.96534-0.322 Picture PostScript Text
3' UTR -239.10986-0.242 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
IPR017375 - PEX12
IPR006845 - Pex_N
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF04757 - Pex2 / Pex12 amino terminal region

ModBase Predicted Comparative 3D Structure on O00623
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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Gene DetailsGene Details Gene DetailsGene DetailsGene Details
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Protein Sequence  Protein SequenceProtein SequenceProtein Sequence
Alignment  AlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0006513 protein monoubiquitination
GO:0006625 protein targeting to peroxisome
GO:0007031 peroxisome organization
GO:0016558 protein import into peroxisome matrix
GO:0016567 protein ubiquitination

Cellular Component:
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:1990429 peroxisomal importomer complex


-  Descriptions from all associated GenBank mRNAs
  AB004546 - Homo sapiens mRNA for peroxisome assembly factor-3 (PAF-3), complete cds.
U91521 - Homo sapiens peroxin 12 (PEX12) mRNA, complete cds.
BC031085 - Homo sapiens peroxisomal biogenesis factor 12, mRNA (cDNA clone MGC:33813 IMAGE:5296541), complete cds.
JD272599 - Sequence 253623 from Patent EP1572962.
JD290875 - Sequence 271899 from Patent EP1572962.
JD036625 - Sequence 17649 from Patent EP1572962.
JD506766 - Sequence 487790 from Patent EP1572962.
JD040312 - Sequence 21336 from Patent EP1572962.
JD338387 - Sequence 319411 from Patent EP1572962.
JD204145 - Sequence 185169 from Patent EP1572962.
AK312635 - Homo sapiens cDNA, FLJ93019, Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.
DQ894122 - Synthetic construct Homo sapiens clone IMAGE:100008582; FLH167969.01L; RZPDo839A0391D peroxisomal biogenesis factor 12 (PEX12) gene, encodes complete protein.
BC015751 - Homo sapiens peroxisomal biogenesis factor 12, mRNA (cDNA clone IMAGE:4859795), partial cds.
JD057039 - Sequence 38063 from Patent EP1572962.
JD455666 - Sequence 436690 from Patent EP1572962.
JD556731 - Sequence 537755 from Patent EP1572962.
JD527343 - Sequence 508367 from Patent EP1572962.

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

Reactome (by CSHL, EBI, and GO)

Protein O00623 (Reactome details) participates in the following event(s):

R-HSA-8953917 PEX2:PEX10:PEX12 binds PEX5S,L (in PEX5S:PEX13:PEX14) and Ub:UBE2D1,2,3
R-HSA-9033516 Ub:PEX5L (in PEX2:PEX10:PEX12:Ub:PEX5L:PEX7:PEX13:PEX14) binds PEX1:PEX6:PEX26 and ZFAND6
R-HSA-9033485 PEX2:PEX10:PEX12 monoubiquitinates PEX5L at cysteine-11
R-HSA-9033527 PEX2:PEX10:PEX12 binds PEX5L (in PEX5L:PEX7:PEX13:PEX14:PEX2:PEX10:PEX12) and Ub:UBE2D1,2,3
R-HSA-9033533 Ub:PEX5S,L (in PEX2:PEX10:PEX12:Ub:PEX5S:PEX13:PEX14) binds PEX1:PEX6:PEX26 and ZFAND6
R-HSA-8953946 PEX2:PEX10:PEX12 monoubiquitinates PEX5S,L at cysteine-11
R-HSA-9033236 PEX5S,L:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex)
R-HSA-9033238 PEX5L:PEX7:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex)
R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
R-HSA-8852135 Protein ubiquitination
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: AB004546, BC031085, PAF3, U91521
UCSC ID: NM_000286
RefSeq Accession: NM_000286
Protein: O00623 (aka PEX12_HUMAN or PEXC_HUMAN)
CCDS: CCDS11296.1

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