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Aliases for PEX1 Gene

Aliases for PEX1 Gene

  • Peroxisomal Biogenesis Factor 1 2 3 5
  • Peroxisome Biogenesis Disorder Protein 1 3 4
  • Peroxisome Biogenesis Factor 1 2 3
  • Zellweger Syndrome 2 3
  • Peroxin-1 3 4
  • Zellweger Syndrome 1 2
  • HMLR1 3
  • PBD1A 3
  • PBD1B 3
  • ZWS1 3
  • ZWS 3

External Ids for PEX1 Gene

Previous HGNC Symbols for PEX1 Gene

  • ZWS1
  • ZWS

Previous GeneCards Identifiers for PEX1 Gene

  • GC07M090651
  • GC07M091714
  • GC07M091728
  • GC07M091760
  • GC07M091954
  • GC07M092116
  • GC07M086725

Summaries for PEX1 Gene

Entrez Gene Summary for PEX1 Gene

  • 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]

GeneCards Summary for PEX1 Gene

PEX1 (Peroxisomal Biogenesis Factor 1) is a Protein Coding gene. Diseases associated with PEX1 include Peroxisome Biogenesis Disorder 1B and Heimler Syndrome 1. Among its related pathways are Peroxisome. GO annotations related to this gene include protein complex binding and four-way junction helicase activity.

UniProtKB/Swiss-Prot for PEX1 Gene

  • 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.

Gene Wiki entry for PEX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX1 Gene

Genomics for PEX1 Gene

Regulatory Elements for PEX1 Gene

Enhancers for PEX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F092527 1.5 FANTOM5 ENCODE 45.8 +0.2 160 2.4 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 RBM48 FAM133B PEX1 GATAD1 ENSG00000243107 CDK6 GC07M092508
GH07F092746 2.6 FANTOM5 Ensembl ENCODE 10.2 -223.2 -223181 10.6 ZNF133 ARID4B SIN3A BRCA1 FOS NFYC PPARG KAT8 MAFF MIER3 PEX1 CDK6 GC07M092702 RNU6-10P LOC101927497
GH07F092588 1.1 ENCODE 10.4 -61.3 -61340 2.3 HDGF CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 GATAD1 ENSG00000243107 RBM48 FAM133B ERVW-1 PEX1 GC07P092561
GH07F092585 0.9 Ensembl ENCODE 10.8 -58.3 -58270 2.0 GATAD2A PKNOX1 HLF CEBPB FEZF1 CEBPG EBF1 EP300 ZNF843 ATF2 RBM48 GATAD1 PEX1 FAM133B GC07P092561
GH07F092463 0.4 ENCODE 23.1 +64.1 64073 1.3 CTBP1 DPF2 PEX1 GATAD1 RBM48 PIR35171 PIR41055
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PEX1 on UCSC Golden Path with GeneCards custom track

Promoters for PEX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000630229 230 2600 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for PEX1 Gene

Chromosome:
7
Start:
92,487,020 bp from pter
End:
92,528,531 bp from pter
Size:
41,512 bases
Orientation:
Minus strand

Genomic View for PEX1 Gene

Genes around PEX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX1 Gene

Proteins for PEX1 Gene

  • Protein details for PEX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43933-PEX1_HUMAN
    Recommended name:
    Peroxisome biogenesis factor 1
    Protein Accession:
    O43933
    Secondary Accessions:
    • A4D1G3
    • A8KA90
    • B4DIM7
    • E9PE75
    • Q96S71
    • Q96S72
    • Q96S73
    • Q99994

    Protein attributes for PEX1 Gene

    Size:
    1283 amino acids
    Molecular mass:
    142867 Da
    Quaternary structure:
    • Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6.
    SequenceCaution:
    • Sequence=AAB46346.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PEX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX1 Gene

Post-translational modifications for PEX1 Gene

  • Ubiquitination at Lys 806, Lys 816, Lys 833, Lys 887, and Lys 1224
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX1 Gene

Antibody Products

No data available for DME Specific Peptides for PEX1 Gene

Domains & Families for PEX1 Gene

Gene Families for PEX1 Gene

Suggested Antigen Peptide Sequences for PEX1 Gene

Graphical View of Domain Structure for InterPro Entry

O43933

UniProtKB/Swiss-Prot:

PEX1_HUMAN :
  • Belongs to the AAA ATPase family.
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with PEX1: view

Function for PEX1 Gene

Molecular function for PEX1 Gene

GENATLAS Biochemistry:
peroxin 1,peroxisome biogenesis factor 1,located mainly in the cytoplasm,required for the stability of PEX5 (PXR1) homolog to S cerevisiae PEX1
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for PEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9588209
GO:0005524 ATP binding IMP 16854980
GO:0008022 protein C-terminus binding IPI 16854980
GO:0032403 protein complex binding IDA 16854980
GO:0042623 ATPase activity, coupled IEA,IMP 16854980
genes like me logo Genes that share ontologies with PEX1: view
genes like me logo Genes that share phenotypes with PEX1: view

Human Phenotype Ontology for PEX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PEX1 Gene

miRTarBase miRNAs that target PEX1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PEX1 Gene

Localization for PEX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX1 Gene

Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEX1 gene
Compartment Confidence
extracellular 5
peroxisome 5
cytosol 5
nucleus 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 9588209
GO:0005777 peroxisome IEA,IDA 16854980
GO:0005778 peroxisomal membrane IEA,IDA 11439091
GO:0005829 cytosol IDA 16854980
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PEX1: view

Pathways & Interactions for PEX1 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX1: view

Pathways by source for PEX1 Gene

1 KEGG pathway for PEX1 Gene

Gene Ontology (GO) - Biological Process for PEX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome IEA,IMP 11439091
GO:0006810 transport IEA --
GO:0007031 peroxisome organization IMP 11439091
GO:0015031 protein transport IEA --
GO:0016558 protein import into peroxisome matrix IMP 9398847
genes like me logo Genes that share ontologies with PEX1: view

No data available for SIGNOR curated interactions for PEX1 Gene

Drugs & Compounds for PEX1 Gene

(1) Additional Compounds for PEX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PEX1: view

Transcripts for PEX1 Gene

Unigene Clusters for PEX1 Gene

Peroxisomal biogenesis factor 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX1 Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12:

Relevant External Links for PEX1 Gene

GeneLoc Exon Structure for
PEX1
ECgene alternative splicing isoforms for
PEX1

Expression for PEX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX1 Gene

This gene is overexpressed in Esophagus (22.5), Bone marrow mesenchymal stem cell (17.3), and Lung (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PEX1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PEX1 Gene:

PEX1

SOURCE GeneReport for Unigene cluster for PEX1 Gene:

Hs.164682
genes like me logo Genes that share expression patterns with PEX1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PEX1 Gene

Orthologs for PEX1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PEX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX1 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia PEX1 34 35
  • 88.11 (n)
cow
(Bos Taurus)
Mammalia PEX1 34 35
  • 87.3 (n)
mouse
(Mus musculus)
Mammalia Pex1 34 16 35
  • 82.93 (n)
rat
(Rattus norvegicus)
Mammalia Pex1 34
  • 82.93 (n)
oppossum
(Monodelphis domestica)
Mammalia PEX1 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX1 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX1 34 35
  • 68.83 (n)
lizard
(Anolis carolinensis)
Reptilia PEX1 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex1 34
  • 60.34 (n)
Str.19191 34
zebrafish
(Danio rerio)
Actinopterygii pex1 34 35
  • 55.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(3)70Da 36
  • 40 (a)
Pex1 35
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-1 36 35
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX1 35 37
  • 30 (a)
OneToOne
Species where no ortholog for PEX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEX1 Gene

ENSEMBL:
Gene Tree for PEX1 (if available)
TreeFam:
Gene Tree for PEX1 (if available)

Paralogs for PEX1 Gene

(9) SIMAP similar genes for PEX1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PEX1: view

No data available for Paralogs for PEX1 Gene

Variants for PEX1 Gene

Sequence variations from dbSNP and Humsavar for PEX1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs28939678 Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100], Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
rs370483961 Heimler syndrome 1 (HMLR1) [MIM:234580], Pathogenic 92,507,055(+) GCTGC(C/G/T)GAGAC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs61750407 Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] 92,507,020(-) GGAAT(A/G)GAGCT nc-transcript-variant, reference, missense
rs61750419 Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100] 92,501,914(-) TCTCT(C/G/T)GTCAG nc-transcript-variant, reference, missense
rs61750420 Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100], Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539], Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100], Pathogenic 92,501,562(-) GATTG(A/G)TGGGT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PEX1 Gene

Variant ID Type Subtype PubMed ID
nsv5841 CNV insertion 18451855
esv3614141 CNV loss 21293372
esv2657169 CNV deletion 23128226

Variation tolerance for PEX1 Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.51; 55.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX1 Gene

Human Gene Mutation Database (HGMD)
PEX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX1 Gene

Disorders for PEX1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for PEX1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 1b
  • infantile refsum disease
heimler syndrome 1
  • deafness enamel hypoplasia nail defects
peroxisome biogenesis disorder 1a
  • zellweger syndrome
deafness enamel hypoplasia nail defects
  • bilateral sensorineural hearing loss, enamel hypoplasia and nail defects
peroxisome biogenesis disorders, zellweger syndrome spectrum
  • peroxisome biogenesis disorder-zellweger syndrome spectrum
- elite association - COSMIC cancer census association via MalaCards
Search PEX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX1_HUMAN
  • Heimler syndrome 1 (HMLR1) [MIM:234580]: A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities. {ECO:0000269 PubMed:26387595}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:9398847, ECO:0000269 PubMed:9398848, ECO:0000269 PubMed:9539740}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269 PubMed:11439091, ECO:0000269 PubMed:9398847, ECO:0000269 PubMed:9539740}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: 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 (PBD-ZSS). {ECO:0000269 PubMed:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX1

Genetic Association Database (GAD)
PEX1
Human Genome Epidemiology (HuGE) Navigator
PEX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX1
genes like me logo Genes that share disorders with PEX1: view

No data available for Genatlas for PEX1 Gene

Publications for PEX1 Gene

  1. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. (PMID: 9398848) Portsteffen H. … Dodt G. (Nat. Genet. 1997) 2 3 4 22 64
  2. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PMID: 19105186) Yik W.Y. … Hacia J.G. (Hum. Mutat. 2009) 3 4 22 64
  3. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. (PMID: 11439091) Tamura S. … Fujiki Y. (Biochem. J. 2001) 3 4 22 64
  4. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. (PMID: 9539740) Tamura S. … Fujiki Y. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 22 64
  5. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. (PMID: 9398847) Reuber B.E. … Gould S.J. (Nat. Genet. 1997) 3 4 22 64

Products for PEX1 Gene

Sources for PEX1 Gene

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