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
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";
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.
Pfam Domains: PF04757 - Pex2 / Pex12 amino terminal region
ModBase Predicted Comparative 3D Structure on O00623
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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.
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