Description: peroxisomal biogenesis factor 19 RefSeq Summary (NM_002857): This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). 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. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some 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), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]. Transcript (Including UTRs) Position: hg17 chr1:157,059,675-157,068,004 Size: 8,330 Total Exon Count: 8 Strand: - Coding Region Position: hg17 chr1:157,062,414-157,067,987 Size: 5,574 Coding Exon Count: 8
ID:PEX19_HUMAN DESCRIPTION: RecName: Full=Peroxisomal biogenesis factor 19; AltName: Full=33 kDa housekeeping protein; AltName: Full=Peroxin-19; AltName: Full=Peroxisomal farnesylated protein; Flags: Precursor; FUNCTION: Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53. SUBUNIT: Interacts with a broad range of peroxisomal membrane proteins, including PEX3, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14 and PEX16, PXMP2/PMP22, PXMP4/PMP24, SLC25A17/PMP34, ABCD1/ALDP, ABCD2/ALDRP, and ABCD3/PMP70. Also interacts with the tumor suppressor CDKN2A/p19ARF. INTERACTION: P28288:ABCD3; NbExp=2; IntAct=EBI-594747, EBI-80992; O96011:PEX11B; NbExp=2; IntAct=EBI-594747, EBI-594824; O00623:PEX12; NbExp=2; IntAct=EBI-594747, EBI-594836; Q92968:PEX13; NbExp=2; IntAct=EBI-594747, EBI-594849; O75381:PEX14; NbExp=4; IntAct=EBI-594747, EBI-594898; P56589:PEX3; NbExp=4; IntAct=EBI-594747, EBI-594885; O43808:SLC25A17; NbExp=4; IntAct=EBI-594747, EBI-594912; SUBCELLULAR LOCATION: Cytoplasm. Peroxisome membrane; Lipid- anchor; Cytoplasmic side. Note=Mainly cytoplasmic. Some fraction membrane-associated to the outer surface of peroxisomes. TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form. DISEASE: Defects in PEX19 are the cause of peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:600279]; also known as PBD-CGJ. 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 PEX19 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-19 family. SEQUENCE CAUTION: Sequence=BAB93469.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX19";
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 P40855
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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.