PEX1 Gene
protein-coding GIFtS: 63
GCID: GC07M092116
|
|
peroxisomal biogenesis factor 1(Previous names: peroxisome biogenesis factor 1, Zellweger syndrome 1, Zellweger...)
(Previous symbols: ZWS1, ZWS)
| |
Aliases
for PEX1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Peroxisomal Biogenesis Factor 11 2 | | Zellweger Syndrome 11 | | ZWS11 2 5 | | PBD1A2 | | ZWS1 2 | | PBD1B2 | | Peroxisome Biogenesis Factor 11 2 | | Peroxin-13 | | Zellweger Syndrome1 2 | | Peroxin-13 | | Peroxisome Biogenesis Disorder Protein 12 3 | | |
Export aliases for PEX1 gene to outside databasesPrevious GC identifers: GC07M090651 GC07M091714 GC07M091728 GC07M091760 GC07M091954 GC07M086725 |
Summaries
for PEX1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PEX1:
This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellularactivities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromericcomplex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this genehave been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy,infantile Refsum disease, and Zellweger syndrome. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PEX1_HUMAN, O43933Function: Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisomemembranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes
Gene Wiki entry for PEX1
|
Genomic Views
for PEX1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PEX1 gene promoter:
E2F-4 E2F-3a E2F-5 GATA-3 E2F-2 GATA-2 HEN1 E2F-1 E2F ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for PEX1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q21.2 Ensembl cytogenetic band: 7q21.2 HGNC cytogenetic band: 7q21.2PEX1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M092116: view genomic region
(about GC identifiers)
Start:
|
92,116,334 bp from pter |
End:
|
92,157,845 bp from pter |
Size:
|
41,512 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 91,445,547-91,487,069 |
|
Proteins
for PEX1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PEX1_HUMAN, O43933 (See
protein sequence)Recommended Name: Peroxisome biogenesis factor 1 Size: 1283 amino acids; 142867 Da
Subunit: Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6
Subcellular location: Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes
Sequence caution: Sequence=AAB46346.1; Type=Erroneous gene model prediction;
Secondary accessions: A4D1G3 A8KA90 Q96S71 Q96S72 Q96S73 Q99994Explore the universe of human proteins at neXtProt for PEX1: NX_O43933
Post-translational modifications:
View modification sites using PhosphoSitePlus2 (EAL24151)View neXtProt modification sites for NX_O43933
PEX1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000457.1
ENSEMBL proteins: ENSP00000410438 ENSP00000248633 ENSP00000394413 ENSP00000389594 ENSP00000438637
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
PEX1 for ontologies About GeneDecksing
PEX1 Antibody Products:
Assay Products for PEX1: |
Protein
Domains /
Families
for PEX1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PEX1 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry O43933ProtoNet protein and cluster: O43933 1 Blocks protein family: IPB003960 AAA-protein subdomain
UniProtKB/Swiss-Prot: PEX1_HUMAN, O43933Similarity: Belongs to the AAA ATPase family |
Function
for PEX1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PEX1_HUMAN, O43933Function: Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisomemembranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes Genatlas biochemistry entry for PEX1:peroxin 1,peroxisome biogenesis factor 1,located mainly in the cytoplasm,required for the stability of PEX5 (PXR1)homolog to S cerevisiae PEX1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PEX1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PEX1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): PEX1 (NM_001641) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PEX1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
PEX1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PEX1:
|
Pathways & Interactions
for PEX1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Peroxisome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for PEX1):
PEX1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEX1
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5/25 Interacting proteins for PEX1 (O439331, 3 ENSP000002486334) via UniProtKB, MINT, STRING, and/or I2D (see all 25)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
PEX1 for ontologies About GeneDecksing
|
Drugs & Compounds
for PEX1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PEX1 for compounds About GeneDecksing
 Browse Tocris compounds for PEX1
1 Novoseek chemical compound relationship for PEX1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lipid |
0 |
3 |
17018057 (3) |
Search CenterWatch for drugs/clinical trials and news about PEX1
|
Transcripts
for PEX1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PEX1 gene: NM_000466.2 Unigene Cluster for PEX1: Peroxisomal biogenesis factor 1 Hs.164682 [show with all ESTs]Unigene Representative Sequence: NM_00046611 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000438045 ENST00000248633(uc003uly.3 uc011khr.2 uc010ley.3 uc011khs.2)
ENST00000496420 ENST00000477342 ENST00000484913(uc011kht.1) ENST00000428214
ENST00000469417 ENST00000496092 ENST00000422866 ENST00000476923 ENST00000541751
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PEX1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PEX1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): PEX1 (NM_001641) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PEX1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX1 |
Additional cDNA sequence: AB008112.1 AB052090.1 AB052091.1 AB052092.1 AB052093.1 AB052094.1 AF026086.1 AF030356.1 AK292955.1 AK293757.1 AK293848.1 AK295686.1 BC035575.1 12 DOTS entries: DT.455649 DT.95166124 DT.40119855 DT.116004 DT.100812418 DT.116002 DT.70103455 DT.100807477 DT.101977551 DT.95345668 DT.121065487 DT.95219499 24/110 AceView cDNA sequences (see all 110): AB052090 AB052091 BM787088 AB052094 BP352322 AF026086 BQ029609 AI017600 AA490966 BX353670 AB052092 AA479630 AA348219 AA286696 NM_000466 AA279043 AB052093 AW964491 BC035575 AA319409 BQ002685 AA287484 AF030356 AA598527
GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for PEX1 (see all 12) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20a | · | 20b | · | 20c | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24a | · | 24b | · | 24c | ^ | 25 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for PEX1
|
Expression
for PEX1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PEX1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACCAACCAG
About this image
See PEX1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PEX1
SOURCE GeneReport for Unigene cluster: Hs.164682
SABiosciences Custom PCR Arrays for PEX1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PEX1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PEX1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX1 |
Orthologs
for PEX1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for PEX1 gene from 8/26 species (see all 26) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
PEX11 |
peroxisomal biogenesis factor 1 |
68.91(n)
63.32(a) |
|
420554 XM_418655.3 XP_418655.2 |
lizard
(Anolis carolinensis) |
Reptilia |
PEX16 |
-- |
62(a) |
1 ↔ 1 |
6(21261870-21284149) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BQ384765.12 |
-- |
75.38(n) |
|
BQ384765.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
pex11 |
peroxisomal biogenesis factor 1 |
55.84(n)
51.11(a) |
|
100534854 XM_003200620.1 XP_003200668.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
l(3)70Da3 |
peroxisome organization and biogenesis
peroxisome-assembly ATPase less |
40(a) |
|
-- |
worm
(Caenorhabditis elegans) |
Secernentea |
prx-13 |
peroxisome biosynthesis protein like |
36(a) |
|
X(14349166-14361795) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
PEX16 |
peroxisome 1 |
27(a) |
1 ↔ 1 |
5(2735925-2743056) |
rice
(Oryza sativa) |
Liliopsida |
-- |
AAA-type ATPase family protein, putative, expresse... |
27(a) |
1 ↔ 1 |
8(27846329-27853532) |
ENSEMBL Gene Tree for PEX1 (if available)
TreeFam Gene Tree for PEX1 (if available) |
Paralogs
for PEX1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for PEX1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PEX1 (92116334 - 92157845 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PEX1
1 CNV: 94690
Human Gene Mutation Database (HGMD): PEX1
Locus Specific Mutation Databases (LSDB): PEX1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PEX1 |
|
Disorders
/ Diseases
for PEX1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PEX1 for disorders About GeneDecksing
OMIM gene information: 602136
OMIM disorders: 214100 202370 266510
UniProtKB/Swiss-Prot: PEX1_HUMAN, O43933
Defects in PEX1 are the cause of peroxisome biogenesis disorder complementation group 1 (PBD-CG1)[MIM:214100]; also known as PBD-CGE. PBD refers to a group of peroxisomal disorders arising from a failure of proteinimport 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 chondrodysplasiapunctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlappingphenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinctgenetic groups as concluded from complementation studies Defects in PEX1 are the cause of peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100]. A fatal peroxisomebiogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disordercharacterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia andneonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes.Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearingimpairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) diewithin the first year of life Defects in PEX1 are the cause of peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]. A peroxisomebiogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two mildermanifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentationis variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinaldystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with theIRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respectto loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chainfatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid
20/24  diseases for PEX1 (see all 24): About MalaCardszellweger syndrome peroxisomal biogenesis disorder peroxisome biogenesis disorders peroxisome biogenesis factor
infantile refsum disease zellweger syndrome-1 refsum disease neonatal adrenoleukodystrophy
adrenoleukodystrophy peroxisome biogenesis disorders, zellweger syndrome spectrum peroxisome biogenesis disorders (pbd) werdnig-hoffmann disease
rhizomelic chondrodysplasia punctata chondrodysplasia punctata zellweger syndrome spectrum mulibrey nanism
chondrodysplasia osteoporosis hepatocellular carcinoma lung carcinoma
3 diseases from the University of Copenhagen DISEASES database for PEX1:Zellweger syndrome Infantile refsum disease Adrenoleukodystrophy 5 Novoseek disease relationships for PEX1 gene About this table
GeneTests: PEX1
Zellweger Syndrome Spectrum
Human Genome Epidemiology (HuGE) Navigator: PEX1 (1 document)
Export disorders for PEX1 gene to outside databases
|
Publications
for PEX1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for PEX1 gene, integrated from 9 sources (see all 66):
(articles sorted by number of sources associating them with PEX1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. (PubMed id 9398848)1, 2, 3, 9 Portsteffen H.... Dodt G. (1997)
- Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. (PubMed id 9398847)1, 2, 9 Reuber B.E.... Gould S.J. (1997)
- Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. (PubMed id 9539740)1, 2, 9 Tamura S.... Fujiki Y. (1998)
- Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. (PubMed id 11439091)1, 2, 9 Tamura S.... Fujiki Y. (2001)
- Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PubMed id 19105186)1, 2, 9 Yik W.Y....Hacia J.G. (2009)
- Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
- The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. (PubMed id 12717447)1, 2 Matsumoto N.... Fujiki Y. (2003)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
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External Searches for PEX1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing PEX1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing PEX1 gene
(According to HUGE)
About This Section
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Specialized Databases showing PEX1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for PEX1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX1 | | dbPEX, PEX Gene Database | http://www.dbpex.org/home.php?select_db=PEX1 |
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About This Section
| Patent Information for PEX1 gene:
Search GeneIP for patents involving PEX1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for PEX1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for PEX1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PEX1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PEX1 | | | OriGene Protein Over-expression Lysate for PEX1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PEX1 | | OriGene 3'-UTR Clone for PEX1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PEX1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PEX1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for PEX1 | | OriGene Custom Protein Services for PEX1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PEX1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PEX1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX1 |
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| | | | Search Tocris compounds for PEX1 |
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 | | | PEX1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX1 |
|  |  |  | | | | ThermoFisher Antibodies for PEX1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX1 |
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