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Aliases for PEX10 Gene

Aliases for PEX10 Gene

  • Peroxisomal Biogenesis Factor 10 2 3 4 5
  • Peroxisome Assembly Protein 10 3 4
  • RING Finger Protein 69 3 4
  • Peroxin-10 3 4
  • RNF69 3 4
  • Peroxisome Biogenesis Factor 10 2
  • Peroxin 10 3
  • PBD6A 3
  • PBD6B 3
  • NALD 3

External Ids for PEX10 Gene

Previous GeneCards Identifiers for PEX10 Gene

  • GC01M001891
  • GC01M002348
  • GC01M001996
  • GC01M002205
  • GC01M002368
  • GC01M001614

Summaries for PEX10 Gene

Entrez Gene Summary for PEX10 Gene

  • This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for PEX10 Gene

PEX10 (Peroxisomal Biogenesis Factor 10) is a Protein Coding gene. Diseases associated with PEX10 include peroxisome biogenesis disorder 6b and peroxisome biogenesis disorder 6a. Among its related pathways are Peroxisome. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot for PEX10 Gene

  • Somewhat implicated in the biogenesis of peroxisomes.

Gene Wiki entry for PEX10 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX10 Gene

Genomics for PEX10 Gene

Regulatory Elements for PEX10 Gene

Promoters for PEX10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PEX10 on UCSC Golden Path with GeneCards custom track

Genomic Location for PEX10 Gene

Chromosome:
1
Start:
2,403,964 bp from pter
End:
2,413,797 bp from pter
Size:
9,834 bases
Orientation:
Minus strand

Genomic View for PEX10 Gene

Genes around PEX10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX10 Gene

Proteins for PEX10 Gene

  • Protein details for PEX10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60683-PEX10_HUMAN
    Recommended name:
    Peroxisome biogenesis factor 10
    Protein Accession:
    O60683
    Secondary Accessions:
    • B3KWD8
    • Q5T095
    • Q9BW90

    Protein attributes for PEX10 Gene

    Size:
    326 amino acids
    Molecular mass:
    37069 Da
    Quaternary structure:
    • Interacts with PEX19.

    Alternative splice isoforms for PEX10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX10 Gene

Proteomics data for PEX10 Gene at MOPED

Post-translational modifications for PEX10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEX10 Gene

Antibody Products

No data available for DME Specific Peptides for PEX10 Gene

Domains & Families for PEX10 Gene

Gene Families for PEX10 Gene

Protein Domains for PEX10 Gene

Suggested Antigen Peptide Sequences for PEX10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60683

UniProtKB/Swiss-Prot:

PEX10_HUMAN :
  • Belongs to the pex2/pex10/pex12 family.
  • Contains 1 RING-type zinc finger.
Family:
  • Belongs to the pex2/pex10/pex12 family.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with PEX10: view

Function for PEX10 Gene

Molecular function for PEX10 Gene

GENATLAS Biochemistry:
peroxin 10,peroxisome assembly protein 10,complementation group 7 (KKI)
UniProtKB/Swiss-Prot Function:
Somewhat implicated in the biogenesis of peroxisomes.

Gene Ontology (GO) - Molecular Function for PEX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008022 protein C-terminus binding IPI 10562279
genes like me logo Genes that share ontologies with PEX10: view
genes like me logo Genes that share phenotypes with PEX10: view

Human Phenotype Ontology for PEX10 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 PEX10 Gene

Localization for PEX10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX10 Gene

Peroxisome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX10 Gene COMPARTMENTS Subcellular localization image for PEX10 gene
Compartment Confidence
peroxisome 5
nucleus 4
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PEX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IMP 10862081
GO:0005777 peroxisome IDA 9922452
genes like me logo Genes that share ontologies with PEX10: view

Pathways & Interactions for PEX10 Gene

SuperPathways for PEX10 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX10: view

Pathways by source for PEX10 Gene

1 KEGG pathway for PEX10 Gene

Gene Ontology (GO) - Biological Process for PEX10 Gene

None

No data available for SIGNOR curated interactions for PEX10 Gene

Drugs & Compounds for PEX10 Gene

No Compound Related Data Available

Transcripts for PEX10 Gene

Unigene Clusters for PEX10 Gene

Peroxisomal biogenesis factor 10:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEX10 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10a · 10b
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - -
SP6: - - - -
SP7: - - - - - - - - - -
SP8: -
SP9: - -
SP10:
SP11:

Relevant External Links for PEX10 Gene

GeneLoc Exon Structure for
PEX10
ECgene alternative splicing isoforms for
PEX10

Expression for PEX10 Gene

mRNA expression in normal human tissues for PEX10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX10 Gene

This gene is overexpressed in Adrenal (29.1), Retina (14.6), Fetal testis (10.9), and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX10 Gene



SOURCE GeneReport for Unigene cluster for PEX10 Gene Hs.732228

genes like me logo Genes that share expression patterns with PEX10: view

Protein tissue co-expression partners for PEX10 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX10 Gene

Orthologs for PEX10 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX10 36
  • 98 (a)
OneToOne
PEX10 35
  • 98.75 (n)
  • 98.55 (a)
cow
(Bos Taurus)
Mammalia PEX10 36
  • 47 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX10 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex10 35
  • 80.5 (n)
  • 82.97 (a)
Pex10 16
Pex10 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX10 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX10 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex10 35
  • 81.94 (n)
  • 84.83 (a)
chicken
(Gallus gallus)
Aves PEX10 35
  • 62.99 (n)
  • 58.28 (a)
PEX10 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex10 35
  • 60.47 (n)
  • 54.8 (a)
zebrafish
(Danio rerio)
Actinopterygii pex10 36
  • 54 (a)
OneToOne
pex10 35
  • 58.31 (n)
  • 55.56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000928 35
  • 46.28 (n)
  • 31.39 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7864 37
  • 30 (a)
Pex10 36
  • 32 (a)
OneToOne
Pex10 35
  • 46.74 (n)
  • 35.74 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER390W 35
  • 43.76 (n)
  • 35.05 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX10 35
  • 38 (n)
  • 29.37 (a)
PEX10 36
  • 23 (a)
OneToOne
PEX10 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16677g 35
  • 38.83 (n)
  • 31.62 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX10 35
  • 41.34 (n)
  • 34.65 (a)
rice
(Oryza sativa)
Liliopsida Os07g0608800 35
  • 40.52 (n)
  • 32.34 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03277 35
  • 47.8 (n)
  • 40.91 (a)
Species with no ortholog for PEX10:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEX10 Gene

ENSEMBL:
Gene Tree for PEX10 (if available)
TreeFam:
Gene Tree for PEX10 (if available)

Paralogs for PEX10 Gene

(1) SIMAP similar genes for PEX10 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PEX10: view

No data available for Paralogs for PEX10 Gene

Variants for PEX10 Gene

Sequence variations from dbSNP and Humsavar for PEX10 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_007805 Peroxisome biogenesis disorder 6B (PBD6B)
rs34154371 - 2,406,576(-) TGTGC(A/G)CCCTG nc-transcript-variant, downstream-variant-500B, reference, missense
rs1143016 -- 2,408,773(-) CGTGG(C/T)GTGCT nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime
rs2494428 -- 2,407,635(+) AAATA(C/T)GCAAG intron-variant
rs2494429 -- 2,407,956(+) GTGCC(A/G)ACGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEX10 Gene

Variant ID Type Subtype PubMed ID
dgv64n71 CNV Loss 21882294
nsv871930 CNV Loss 21882294
nsv870616 CNV Gain 21882294
dgv69n71 CNV Loss 21882294
dgv71n71 CNV Loss 21882294
dgv72n71 CNV Loss 21882294
dgv73n71 CNV Loss 21882294
nsv870492 CNV Loss 21882294
dgv74n71 CNV Loss 21882294
dgv75n71 CNV Loss 21882294
nsv823697 CNV Gain 20364138
nsv470684 CNV Loss 18288195
nsv870567 CNV Loss 21882294
dgv76n71 CNV Loss 21882294
dgv1n27 CNV Loss 19166990
dgv77n71 CNV Gain 21882294
dgv78n71 CNV Gain+Loss 21882294

Variation tolerance for PEX10 Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX10 Gene

HapMap Linkage Disequilibrium report
PEX10
Human Gene Mutation Database (HGMD)
PEX10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX10 Gene

Disorders for PEX10 Gene

MalaCards: The human disease database

(18) MalaCards diseases for PEX10 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 6b
  • pbd6b
peroxisome biogenesis disorder 6a
  • pbd6a
autosomal recessive ataxia due to pex10 deficiency
  • mild peroxismal disorder due to pex10 deficiency
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
peroxisome biogenesis disorder 1b
  • infantile refsum disease
- elite association - COSMIC cancer census association via MalaCards
Search PEX10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX10_HUMAN
  • Peroxisome biogenesis disorder complementation group 7 (PBD-CG7) [MIM:614870]: 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 6A (PBD6A) [MIM:614870]: 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:9700193}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871]: 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:9683594}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX10

Genetic Association Database (GAD)
PEX10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX10
genes like me logo Genes that share disorders with PEX10: view

No data available for Genatlas for PEX10 Gene

Publications for PEX10 Gene

  1. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. (PMID: 9683594) Warren D.S. … Gould S.J. (Am. J. Hum. Genet. 1998) 2 3 4 23 67
  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 23
  3. Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. (PMID: 14713216) Shimozawa N. … Kondo N. (Adv. Exp. Med. Biol. 2003) 3 23
  4. Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. (PMID: 10837480) Okumoto K. … Fujiki Y. (J. Biol. Chem. 2000) 3 23
  5. Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. (PMID: 10862081) Warren D.S. … Gould S.J. (Hum. Mutat. 2000) 3 23

Products for PEX10 Gene

Sources for PEX10 Gene

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