Description: Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA. 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: hg19 chr6:143,771,918-143,811,751 Size: 39,834 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr6:143,772,180-143,810,363 Size: 38,184 Coding Exon Count: 12
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";
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.
ModBase Predicted Comparative 3D Structure on P56589
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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.
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. 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. JD488653 - Sequence 469677 from Patent EP1572962. JD130901 - Sequence 111925 from Patent EP1572962. 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. JD432205 - Sequence 413229 from Patent EP1572962.
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
US Server
