Description: Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA. RefSeq Summary (NM_000466): This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]. Transcript (Including UTRs) Position: hg19 chr7:92,116,337-92,157,845 Size: 41,509 Total Exon Count: 24 Strand: - Coding Region Position: hg19 chr7:92,116,771-92,157,749 Size: 40,979 Coding Exon Count: 24
ID:PEX1_HUMAN DESCRIPTION: RecName: Full=Peroxisome biogenesis factor 1; AltName: Full=Peroxin-1; AltName: Full=Peroxisome biogenesis disorder protein 1; FUNCTION: Required for stability of PEX5 and protein import into the peroxisome matrix. 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 PEX6. Interacts indirectly with PEX26, via its interaction with PEX6. INTERACTION: Q13608:PEX6; NbExp=2; IntAct=EBI-988601, EBI-988581; SUBCELLULAR LOCATION: Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in PEX1 are the cause of peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]; also known as PBD-CGE. 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 PEX1 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long- chain fatty acids, adrenal insufficiency and mental retardation. DISEASE: Defects in PEX1 are a cause of infantile Refsum disease (IRD) [MIM:266510]. IRD is a mild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. SIMILARITY: Belongs to the AAA ATPase family. SEQUENCE CAUTION: Sequence=AAB46346.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX1"; WEB RESOURCE: Name=dbPEX, PEX Gene Database; URL="http://www.dbpex.org/home.php?select_db=PEX1";
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 O43933
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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:0015031 protein transport GO:0016558 protein import into peroxisome matrix GO:0060152 microtubule-based peroxisome localization
AK295686 - Homo sapiens cDNA FLJ50168 complete cds, highly similar to Peroxisome biogenesis factor 1. BC035575 - Homo sapiens peroxisomal biogenesis factor 1, mRNA (cDNA clone MGC:45327 IMAGE:5498274), complete cds. AK292955 - Homo sapiens cDNA FLJ77248 complete cds, highly similar to Homo sapiens peroxisome biogenesis factor 1 (PEX1), mRNA. AF030356 - Homo sapiens peroxisome biogenesis gene 1 (PEX1) mRNA, complete cds. AB008112 - Homo sapiens PEX1 mRNA, complete cds. AF026086 - Homo sapiens peroxisome biogenesis disorder protein 1 (PEX1) mRNA, complete cds. AK293757 - Homo sapiens cDNA FLJ51800 complete cds, highly similar to Peroxisome biogenesis factor 1. AB052090 - Homo sapiens mRNA for Pex1p-634del690, complete cds. AB052091 - Homo sapiens mRNA for Pex1pL664P, complete cds. AB052092 - Homo sapiens mRNA for Pex1pG843D, complete cds. AB052093 - Homo sapiens mRNA for Pex1pR633Ter, complete cds. AB052094 - Homo sapiens mRNA for Pex1pQ261Ter, complete cds. DQ890921 - Synthetic construct clone IMAGE:100003551; FLH167108.01X; RZPDo839H1188D peroxisome biogenesis factor 1 (PEX1) gene, encodes complete protein. AK293848 - Homo sapiens cDNA FLJ51807 complete cds, highly similar to Peroxisome biogenesis factor 1. AB209355 - Homo sapiens mRNA for peroxisome biogenesis factor 1 variant protein. JD553205 - Sequence 534229 from Patent EP1572962. JD295494 - Sequence 276518 from Patent EP1572962. JD244606 - Sequence 225630 from Patent EP1572962. JD498990 - Sequence 480014 from Patent EP1572962. LF357577 - JP 2014500723-A/165080: Polycomb-Associated Non-Coding RNAs. MA593154 - JP 2018138019-A/165080: Polycomb-Associated Non-Coding RNAs. JD220575 - Sequence 201599 from Patent EP1572962. JD407262 - Sequence 388286 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04146 - Peroxisome
Reactome (by CSHL, EBI, and GO)
Protein O43933 (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
US Server
