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Aliases & Descriptions for PEX5
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases FLJ50634 2 FLJ50721 2 FLJ51948 2 PTS1-BP 2 , 3 PTS1R 1 , 2 , 3 , 5 PXR1 2 , 3 , 5 Peroxin-5 3 peroxin-5 2
Descriptions PTS1 receptor 3 Peroxisomal C-terminal targeting signal import receptor 2 , 3 Peroxisome receptor 1 1 , 2 , 3 peroxisomal biogenesis factor 5 2 peroxisomal targeting signal 1 (SKL type) receptor 2 peroxisomal targeting signal import receptor 2 peroxisomal targeting signal receptor 1 2
Search outside databases for aliases for PEX5 genePrevious GC identifer: GC12P007235
Summaries for PEX5 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for PEX5 : The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal(SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteinsthat are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders(PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterizedby multiple defects in peroxisome function. The peroxisomal biogenesis disorders are aheterogeneous group with at least 14 complementation groups and with more than 1 phenotype beingobserved in cases falling into particular complementation groups. Although the clinical featuresof PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or moreclasses of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause ofneonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be acause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encodingdifferent isoforms have been identified. [provided by RefSeq] UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542 Function : Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) andplays an essential role in peroxisomal protein import
Gene Wiki entry for PEX5
Genomic Location for PEX5
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the PEX5 gene Entrez Gene cytogenetic band: 12p13.31 Ensembl cytogenetic band: 12p13.31 HGNC cytogenetic band: 12p PEX5 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12P007236:
(about GC identifiers )
Start:
7,234,224 bp from pter
End:
7,255,343 bp from pter
Size:
21,120 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000012.10 NT_009714.16 Proteins for PEX5
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542 (See
protein sequence )Recommended Name: Peroxisomal targeting signal 1 receptor Size : 639 amino acids; 70865 Da
Subunit : Interacts with PEX7 and PEX13 (By similarity). Interacts with PEX12 and PEX14
Subcellular location : Cytoplasm. Peroxisome membrane; Peripheral membrane protein. Note=Itsdistribution appears to be dynamic. It is probably a cycling receptor found mainly in thecytoplasm and as well associated to the peroxisomal membrane through a docking factor (PEX13)
PDB structures from and Proteopedia : 1FCH (3D)
 2C0L (3D)
 2C0M (3D)
 2J9Q (3D)
 2W84 (3D)
 
Secondary accessions : Q15115 Q15266 Q96FN7Alternative splicing : 3 isoforms : P50542-1 P50542-2 P50542-3
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (5 alternative transcripts):
NP_000310.2 NP_001124495.1 NP_001124496.1 NP_001124497.1 NP_001124498.1 ENSEMBL proteins: ENSP00000266564 ENSP00000379877 ENSP00000266563 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: PEX5 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for PEX5: Assays for PEX5:
Protein
Domains/ Families for PEX5(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P50542 ProtoNet protein and cluster: P50542
UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542 Similarity : Belongs to the peroxisomal targeting signal receptor familySimilarity : Contains 7 TPR repeats
Gene Function for PEX5
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5 ): NM_001131023 Applied Biosystems Silencer ® siRNAs for PEX5 Sigma-Aldrich siRNA for PEX5 Sigma-Aldrich shRNA for PEX5 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 5 ): NM_000319                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 5 ): NM_000319                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_000319  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001131023 UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542 Function : Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) andplays an essential role in peroxisomal protein import
9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Pex5) :1 Gene Ontology (GO) molecular function term (links to tree view) :
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Pathways & Interactions for PEX5
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for PEX5 5/35 Interacting proteins for PEX5 (P50542 1 , 2 ENSP00000266564 3 ) via UniProtKB, MINT, and/or STRING (see all 35
)Interactant Interaction Details GeneCard External ID(s) PEX14 O75381 2 , ENSP00000349016 3 MINT-15777 MINT-15776 STRING (score=.999 ) PEX12 O00623 1 , 2 , ENSP00000225873 3 EBI-597835, EBI-594836 MINT-17392 EBI-597835, EBI-594836 MINT-17392 STRING (score=.999 ) PEX12 O00623 1 , 2 , ENSP00000225873 3 EBI-597835, EBI-594836 MINT-17392 EBI-597835, EBI-594836 MINT-17392 STRING (score=.999 ) SNUPN O95149 2 MINT-63270 PEX12 O00623 1 , 2 , ENSP00000225873 3 EBI-597835, EBI-594836 MINT-17392 EBI-597835, EBI-594836 MINT-17392 STRING (score=.999 )
About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0015031 protein transport
IEA --
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Drugs & Compounds for PEX5 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for PEX5 7 Novoseek chemical compound relationships for PEX5 gene
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Transcripts for PEX5(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5 ): NM_001131023 Sigma-Aldrich siRNA for PEX5 Sigma-Aldrich shRNA for PEX5 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000319 NM_001131023 NM_001131024 NM_001131025 NM_001131026
REFSEQ mRNAs for PEX5 gene (5 alternative transcripts): NM_000319.4 NM_001131023.1 NM_001131024.1 NM_001131025.1 NM_001131026.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000319 NM_001131023 NM_001131024 NM_001131025 NM_001131026
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5 ): NM_000319                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 5 ): NM_000319                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_000319  
Additional cDNA sequence: AK225126.1 AK292256.1 AK299105.1 AK299534.1 AK301700.1 AK302742.1 AK303515.1 AK312317.1 AK316250.1 BC010621.2 CR606696.1 CR624220.1 U19721.1 X84899.1 Z48054.1
6 DOTS entries : DT.100817774 DT.95092209 DT.91646130 DT.70105337 DT.121151451 DT.95092229
24/176 AceView cDNA sequences (see all 176
):X84899 AL079967 AA351600 AW007243 BI758042 AA738481 W39074 BU617582 BX280495 T08345 BM973011 AL561558 Z38232 N68515 BI869282 BQ439128 T32266 AW950952 AW073348 AA873073 CR606696 BC010621 AA351578 F01771
highest scoring ESTs for PEX5 :Z48054 AA034224 AA039506 AA039507 AA063632 AA134182 AA134183 AA167780 AA301707 AA351577
Unigene Cluster for PEX5: Peroxisomal biogenesis factor 5 Hs.567327 [show with all ESTs ] Unigene Representative Sequence: NM_001131025 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for PEX5 ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c SP1 :           -                           SP2 :           -       -                     SP3 :           -   -                         SP4 :                                    
About this scheme ECgene alternative splicing isoforms for PEX5 3 Ensembl transcripts including schematic representations : ENST00000266564
ENST00000396637
ENST00000266563
Expression for PEX5
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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PEX5 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for PEX5 1 / 2 / 3
6 probe-sets matching PEX5 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTCCCAGGATSOURCE GeneReport for Unigene cluster: Hs.567327 Expression variation in blood from EXPOLDB for PEX5
UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542 Tissue specificity : Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney andpancreas
Orthologs for PEX5
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for PEX5 gene from 5/18 species (see all 18
)
About this table Species with no ortholog for PEX5 ENSEMBL Gene Tree for PEX5 Paralogs for PEX5 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for PEX5 gene PEX5L 2 Pseudogenes 1 related pseudogene
SNPs/Variants for PEX5 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for PEX5 (up to first 250kb)
Disorders & Mutations for PEX5
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600414 disorders : 202370 214100 UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542
Defects in PEX5 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD isa peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long-chain fattyacids, adrenal insufficiency and mental retardation. Inheritance is autosomal recessive Defects in PEX5 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatalperoxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocularabnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotoniaand neonatal seizures. Death occurs within the first year of life Defects in PEX5 may be a cause of infantile Refsum disease (IRD) [MIM:266510]. IRD is amild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mentalretardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly,osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities includeaccumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoicacid and pipecolic acid
4 Novoseek disease relationships for PEX5 gene
About this table GeneTests: PEX5 Zellweger Syndrome Spectrum Human Gene Mutation Database : PEX5
Medical News for PEX5 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for PEX5 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/86 PubMed articles for PEX5 gene (see all 86
): PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. (PubMed id 10562279) 1, 3, 4 Chang C.C.... Gould S.J. (1999) Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. (PubMed id 7719337) 1, 3, 4 Dodt G.... Gould S.J. (1995) Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. (PubMed id 7790377) 1, 3, 4 Wiemer E.A.C.... Subramani S. (1995) The di-aromatic pentapeptide repeats of the human peroxisome import receptor PEX5 are separate high affinity binding sites for the peroxisomal membrane protein PEX14. (PubMed id 11438541) 1, 3, 4 Saidowsky J.... Schliebs W. (2001) Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5. (PubMed id 11101887) 1, 3, 4 Gatto G.J. Jr.... Berg J.M. (2000) Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. (PubMed id 10462504) 1, 3, 4 Shimozawa N.... Kondo N. (1999) Recognition of a functional peroxisome type 1 target by the dynamic import receptor pex5p. (PubMed id 17157249) 3, 4 Stanley W.A.... Wilmanns M. (2006) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Identification and characterization of the putative human peroxisomal C-terminal targeting signal import receptor. (PubMed id 7706321) 3, 4 Fransen M.... van Veldhoven P.P. (1995) Shuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export. (PubMed id 16314507) 1, 3 Miyata N. and Fujiki Y. (2005)
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Genome Databases showing PEX5
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing PEX5
(According to HUGE )
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Specialized Databases showing PEX5 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=PEX5
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-- Services for PEX5 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for PEX5:
Recombinant Proteins (PEX5 ) Antibodies (PEX5 )
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009