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Aliases for PEX6 Gene

Aliases for PEX6 Gene

  • Peroxisomal Biogenesis Factor 6 2 3 4 5
  • Peroxisomal-Type ATPase 1 3 4
  • Peroxin-6 3 4
  • PXAAA1 3 4
  • PAF-2 3 4
  • Peroxisomal AAA-Type ATPase 1 3
  • Peroxisome Assembly Factor 2 3
  • HMLR2 3
  • PBD4A 3
  • PDB4B 3
  • PAF2 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

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 heimler syndrome 2. Among its related pathways are Peroxisome. GO annotations related to this gene include ATPase activity and protein C-terminus binding.

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

Promoters for PEX6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PEX6 on UCSC Golden Path with GeneCards custom track

Genomic Location for PEX6 Gene

Chromosome:
6
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

Genes around PEX6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 306 and Lys 374
  • 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 & Families for PEX6 Gene

Gene Families for PEX6 Gene

Protein Domains for PEX6 Gene

Graphical View of Domain Structure for InterPro Entry

Q13608

UniProtKB/Swiss-Prot:

PEX6_HUMAN :
  • Belongs to the AAA ATPase family.
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 9588209
GO:0016887 ATPase activity IMP 8670792
genes like me logo Genes that share ontologies with PEX6: view

Phenotypes for PEX6 Gene

GenomeRNAi human phenotypes for PEX6:
genes like me logo Genes that share phenotypes with PEX6: view

Human Phenotype Ontology for PEX6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
golgi apparatus 2
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PEX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 11439091
genes like me logo Genes that share ontologies with PEX6: view

Pathways & Interactions 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:0016561 protein import into peroxisome matrix, translocation IMP 8670792
genes like me logo Genes that share ontologies with PEX6: view

No data available for SIGNOR curated interactions for PEX6 Gene

Drugs & Compounds for PEX6 Gene

(3) Drugs for PEX6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PEX6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

Protein differential expression in normal tissues from HIPED for PEX6 Gene

This gene is overexpressed in Bone (30.3) and Breast (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PEX6: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 36
  • 99 (a)
OneToOne
PEX6 35
  • 99.52 (n)
  • 99.49 (a)
cow
(Bos Taurus)
Mammalia PEX6 35
  • 89.05 (n)
  • 91.63 (a)
PEX6 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX6 36
  • 92 (a)
OneToOne
PEX6 35
  • 89.59 (n)
  • 91.84 (a)
mouse
(Mus musculus)
Mammalia Pex6 16
Pex6 36
  • 88 (a)
OneToOne
Pex6 35
  • 84.56 (n)
  • 88.06 (a)
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 36
  • 43 (a)
OneToOne
pex6 35
  • 58.01 (n)
  • 54.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11919 37
  • 38 (a)
Pex6 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-6 37
  • 35 (a)
prx-6 36
  • 29 (a)
OneToOne
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

(6) 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
VAR_007918 Peroxisome biogenesis disorder 4A (PBD4A)
VAR_007919 Peroxisome biogenesis disorder 4A (PBD4A)
rs35830695 - 42,965,726(+) TTGGG(A/G)CCAAA reference, missense
rs2274516 - 42,965,097(-) TACGC(A/G)TTCTA reference, missense
rs1129187 - 42,964,462(-) GGAGC(A/C/G)AGGTA reference, missense

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

Variation tolerance for PEX6 Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.79; 91.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX6 Gene

HapMap Linkage Disequilibrium report
PEX6
Human Gene Mutation Database (HGMD)
PEX6

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

Disorders for PEX6 Gene

MalaCards: The human disease database

(21) MalaCards diseases for PEX6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 4a
  • pbd4a
heimler syndrome 2
  • pbd4c
peroxisome biogenesis disorder 4b
  • pbd4b
peroxisome biogenesis disorder 1b
  • infantile refsum disease
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
- elite association - COSMIC cancer census association via MalaCards
Search PEX6 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:26387595}. 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.

Relevant External Links for PEX6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX6
genes like me logo Genes that share disorders with PEX6: view

No data available for Genatlas for PEX6 Gene

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 67
  2. Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. (PMID: 19877282) Ebberink M.S. … Waterham H.R. (Hum. Mutat. 2010) 3 23
  3. 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 23
  4. Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p. (PMID: 16854980) Tamura S. … Fujiki Y. (J. Biol. Chem. 2006) 3 23
  5. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. (PMID: 11873320) Raas-Rothschild A. … Korman S.H. (Am. J. Hum. Genet. 2002) 3 23

Products for PEX6 Gene

Sources for PEX6 Gene

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