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Aliases for PEX6 Gene

Aliases for PEX6 Gene

  • Peroxisomal Biogenesis Factor 6 2 3 4
  • PXAAA1 3 4 6
  • Peroxisomal-Type ATPase 1 3 4
  • Peroxin-6 3 4
  • PBD4A 3 6
  • PDB4B 3 6
  • PAF-2 3 4
  • PAF2 3 6
  • Peroxisome Biogenesis Factor 6 3
  • Peroxisomal AAA-Type ATPase 1 3
  • Peroxisome Assembly Factor 2 3

External Ids for PEX6 Gene

Previous GeneCards Identifiers for PEX6 Gene

  • GC06M042933
  • GC06M042978
  • GC06M043039
  • GC06M042648

Summaries for PEX6 Gene

Entrez Gene Summary for PEX6 Gene

  • 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. [provided by RefSeq, Oct 2008]

GeneCards Summary for PEX6 Gene

PEX6 (Peroxisomal Biogenesis Factor 6) is a Protein Coding gene. Diseases associated with PEX6 include peroxisome biogenesis disorder 4a and peroxisome biogenesis disorder 4b. Among its related pathways are Peroxisome. GO annotations related to this gene include protein C-terminus binding and ATPase activity.

UniProtKB/Swiss-Prot for PEX6 Gene

  • 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

Gene Wiki entry for PEX6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX6 Gene

Genomics for PEX6 Gene

Regulatory Elements for PEX6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PEX6 Gene

Start:
42,963,870 bp from pter
End:
42,979,243 bp from pter
Size:
15,374 bases
Orientation:
Minus strand

Genomic View for PEX6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEX6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX6 Gene

Proteins for PEX6 Gene

  • Protein details for PEX6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13608-PEX6_HUMAN
    Recommended name:
    Peroxisome assembly factor 2
    Protein Accession:
    Q13608
    Secondary Accessions:
    • Q5T8W1
    • Q8WYQ0
    • Q8WYQ1
    • Q8WYQ2
    • Q99476

    Protein attributes for PEX6 Gene

    Size:
    980 amino acids
    Molecular mass:
    104061 Da
    Quaternary structure:
    • Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26. Interacts with ZFAND6.

    Alternative splice isoforms for PEX6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX6 Gene

Proteomics data for PEX6 Gene at MOPED

Post-translational modifications for PEX6 Gene

  • Ubiquitination at Lys306 and Lys374
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PEX6 Gene

Domains for PEX6 Gene

Gene Families for PEX6 Gene

HGNC:
  • AATP :ATPases / AAA-type

Protein Domains for PEX6 Gene

Graphical View of Domain Structure for InterPro Entry

Q13608

UniProtKB/Swiss-Prot:

PEX6_HUMAN :
  • Q13608
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with PEX6: view

Function for PEX6 Gene

Molecular function for PEX6 Gene

GENATLAS Biochemistry: peroxin 6,peroxisome biogenesis factor 6
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16257970
GO:0005524 ATP binding IMP 16854980
GO:0008022 protein C-terminus binding IPI 16854980
GO:0016887 ATPase activity IMP 8670792
GO:0032403 protein complex binding IDA 16854980
genes like me logo Genes that share ontologies with PEX6: view

Animal Model Products

miRNA for PEX6 Gene

miRTarBase miRNAs that target PEX6

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for PEX6 Gene

Localization for PEX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX6 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX6 Gene COMPARTMENTS Subcellular localization image for PEX6 gene
Compartment Confidence
cytosol 5
peroxisome 5
extracellular 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 8670792
GO:0005777 peroxisome IDA 11439091
GO:0005778 peroxisomal membrane IEA --
GO:0005829 cytosol IDA 16854980
genes like me logo Genes that share ontologies with PEX6: view

Pathways for PEX6 Gene

SuperPathways for PEX6 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX6: view

Pathways by source for PEX6 Gene

1 KEGG pathway for PEX6 Gene

Gene Ontology (GO) - Biological Process for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006625 protein targeting to peroxisome IMP 16854980
GO:0007031 peroxisome organization IMP 8940266
GO:0008152 metabolic process IMP 16854980
GO:0016561 protein import into peroxisome matrix, translocation IMP 8670792
genes like me logo Genes that share ontologies with PEX6: view

Compounds for PEX6 Gene

(5) Novoseek inferred chemical compound relationships for PEX6 Gene

Compound -log(P) Hits PubMed IDs
actomyosin 44.3 1
acyl-coa 35 1
atp 11.7 2
magnesium 6.76 1
calcium 0 2
genes like me logo Genes that share compounds with PEX6: view

Transcripts for PEX6 Gene

Unigene Clusters for PEX6 Gene

Peroxisomal biogenesis factor 6:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEX6

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PEX6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - -
SP5:
SP6:

Relevant External Links for PEX6 Gene

GeneLoc Exon Structure for
PEX6
ECgene alternative splicing isoforms for
PEX6

Expression for PEX6 Gene

mRNA expression in normal human tissues for PEX6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX6 Gene

SOURCE GeneReport for Unigene cluster for PEX6 Gene Hs.656425

genes like me logo Genes that share expressions with PEX6: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX6 Gene

Orthologs for PEX6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX6 35
  • 99.52 (n)
  • 99.49 (a)
PEX6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX6 35
  • 89.05 (n)
  • 91.63 (a)
PEX6 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX6 35
  • 89.59 (n)
  • 91.84 (a)
PEX6 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex6 35
  • 84.56 (n)
  • 88.06 (a)
Pex6 16
Pex6 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX6 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pex6 35
  • 83.91 (n)
  • 87.32 (a)
chicken
(Gallus gallus)
Aves PEX6 35
  • 68.08 (n)
  • 69.01 (a)
PEX6 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX6 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex6 35
  • 68.45 (n)
  • 72.33 (a)
zebrafish
(Danio rerio)
Actinopterygii pex6 35
  • 58.01 (n)
  • 54.44 (a)
pex6 36
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pex6 36
  • 28 (a)
OneToOne
CG11919 37
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea prx-6 36
  • 29 (a)
OneToOne
prx-6 37
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX6 36
  • 27 (a)
OneToOne
PEX6 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX6 35
  • 47.5 (n)
  • 42.08 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.8766 35
rice
(Oryza sativa)
Liliopsida Os.25046 35
Os04g0617600 35
  • 46.6 (n)
  • 43.34 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2307 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1857 36
  • 45 (a)
OneToOne
Species with no ortholog for PEX6:
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEX6 Gene

ENSEMBL:
Gene Tree for PEX6 (if available)
TreeFam:
Gene Tree for PEX6 (if available)

Paralogs for PEX6 Gene

Selected SIMAP similar genes for PEX6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PEX6: view

No data available for Paralogs for PEX6 Gene

Variants for PEX6 Gene

Sequence variations from dbSNP and Humsavar for PEX6 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs3293 -- 42,970,639(-) TGTTT(A/C)ATTCC intron-variant
rs1023002 -- 42,970,882(-) ACTGC(A/G)CAGCC intron-variant
rs1129186 Benign 42,964,464(-) CTGGA(A/G)CCAGG synonymous-codon, reference
rs1129187 Benign, - 42,964,462(-) GGAGC(A/C)AGGTA missense, reference
rs2274514 Benign 42,966,762(-) GCACC(A/G)GAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEX6 Gene

Variant ID Type Subtype PubMed ID
nsv830651 CNV Loss 17160897
nsv462927 CNV Loss 19166990

Relevant External Links for PEX6 Gene

HapMap Linkage Disequilibrium report
PEX6
Human Gene Mutation Database (HGMD)
PEX6
Locus Specific Mutation Databases (LSDB)
PEX6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX6 Gene

Disorders for PEX6 Gene

(2) OMIM Diseases for PEX6 Gene (601498)

UniProtKB/Swiss-Prot

PEX6_HUMAN
  • Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]: 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.
  • Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized 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:10408779, ECO:0000269 PubMed:8670792}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 4B (PBD4B) [MIM:614863]: 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:11355018}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PEX6 Gene

(4) Novoseek inferred disease relationships for PEX6 Gene

Disease -log(P) Hits PubMed IDs
peroxisome biogenesis disorders 96.5 8
zellweger syndrome 93.8 7
adrenoleukodystrophy neonatal 88.5 1
refsum disease infantile 86.9 1

Relevant External Links for PEX6

GeneTests
PEX6
GeneReviews
PEX6
genes like me logo Genes that share disorders with PEX6: view

Publications for PEX6 Gene

  1. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. (PMID: 8670792) Yahraus T. … Gould S.J. (EMBO J. 1996) 2 3 4 23
  2. Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. (PMID: 8940266) Fukuda S. … Kondo N. (Am. J. Hum. Genet. 1996) 3 4 23
  3. Genomic structure and identification of 11 novel mutations of the PEX6 'peroxisome assembly factor-2' gene in patients with peroxisome biogenesis disorders. (PMID: 10408779) Zhang Z. … Kondo N. (Hum. Mutat. 1999) 3 4 23
  4. The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. (PMID: 11355018) Matsumoto N. … Fujiki Y. (J. Hum. Genet. 2001) 3 4 23
  5. 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 23

Products for PEX6 Gene

Sources for PEX6 Gene

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