Human Gene PEX6 (ENST00000304611.13) from GENCODE V44
Description: Homo sapiens peroxisomal biogenesis factor 6 (PEX6), transcript variant 2, mRNA. (from RefSeq NM_001316313) RefSeq Summary (NM_000287): This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. Gencode Transcript: ENST00000304611.13 Gencode Gene: ENSG00000124587.14 Transcript (Including UTRs) Position: hg38 chr6:42,963,865-42,979,181 Size: 15,317 Total Exon Count: 17 Strand: - Coding Region Position: hg38 chr6:42,964,335-42,979,150 Size: 14,816 Coding Exon Count: 17
ID:PEX6_HUMAN DESCRIPTION: RecName: Full=Peroxisome assembly factor 2; Short=PAF-2; AltName: Full=Peroxin-6; AltName: Full=Peroxisomal biogenesis factor 6; AltName: Full=Peroxisomal-type ATPase 1; FUNCTION: Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. SUBUNIT: Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26. Interacts with ZFAND6. INTERACTION: O43933:PEX1; NbExp=2; IntAct=EBI-988581, EBI-988601; SUBCELLULAR LOCATION: Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes. DISEASE: Defects in PEX6 are the cause of peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]; also known as PBD-CGC. 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 PEX6 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 AAA ATPase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX6"; WEB RESOURCE: Name=dbPEX, PEX Gene Database; URL="http://www.dbpex.org/home.php?select_db=PEX6";
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: PF00004 - ATPase family associated with various cellular activities (AAA)
ModBase Predicted Comparative 3D Structure on Q13608
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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.
Biological Process: GO:0006625 protein targeting to peroxisome GO:0007031 peroxisome organization GO:0016561 protein import into peroxisome matrix, translocation GO:0050821 protein stabilization
BC033487 - Homo sapiens peroxisomal biogenesis factor 6, mRNA (cDNA clone IMAGE:5172424). AB051076 - Homo sapiens PEX6 mRNA for peroxine Pex6p, complete cds. BC048331 - Homo sapiens peroxisomal biogenesis factor 6, mRNA (cDNA clone MGC:54056 IMAGE:5189685), complete cds. AB208906 - Homo sapiens mRNA for peroxisomal biogenesis factor 6 variant protein. JD150997 - Sequence 132021 from Patent EP1572962. JD525921 - Sequence 506945 from Patent EP1572962. D83703 - Homo sapiens mRNA for peroxisome assembly factor-2, complete cds. JD321872 - Sequence 302896 from Patent EP1572962. JD099532 - Sequence 80556 from Patent EP1572962. JD219803 - Sequence 200827 from Patent EP1572962. AB051077 - Homo sapiens PEX6 mRNA for peroxin Pex6p, complete cds, CG6-PEX6(1) sequence. AB051078 - Homo sapiens PEX6 mRNA for peroxin Pex6p, complete cds, CG6-PEX6(2) sequence. AK314237 - Homo sapiens cDNA, FLJ94981, highly similar to Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA. AB590555 - Synthetic construct DNA, clone: pFN21AB8543, Homo sapiens PEX6 gene for peroxisomal biogenesis factor 6, without stop codon, in Flexi system. AK225704 - Homo sapiens mRNA for peroxisomal biogenesis factor 6 variant, clone: TMS01483.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04146 - Peroxisome
Reactome (by CSHL, EBI, and GO)
Protein Q13608 (Reactome details) participates in the following event(s):
R-HSA-9033516 Ub:PEX5L (in PEX2:PEX10:PEX12:Ub:PEX5L:PEX7:PEX13:PEX14) binds PEX1:PEX6:PEX26 and ZFAND6 R-HSA-9033533 Ub:PEX5S,L (in PEX2:PEX10:PEX12:Ub:PEX5S:PEX13:PEX14) binds PEX1:PEX6:PEX26 and ZFAND6 R-HSA-9033241 Peroxisomal protein import R-HSA-392499 Metabolism of proteins
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